RARE DISEASE
Gorlin syndrome
Gorlin syndrome
Gorlin syndrome
Synonyms: Basal cell nevus syndrome, Gorlin-Goltz syndrome, NBCCS, Nevoid basal cell carcinoma syndrome
Synonyms: Basal cell nevus syndrome, Gorlin-Goltz syndrome, NBCCS, Nevoid basal cell carcinoma syndrome
Synonyms: Basal cell nevus syndrome, Gorlin-Goltz syndrome, NBCCS, Nevoid basal cell carcinoma syndrome
Drug discovery
8
drugs
With orphan designations
Overview
Gorlin syndrome (nevoid basal cell carcinoma syndrome) is an autosomal dominant disorder caused by PTCH1 mutations (50-85% of cases) that dysregulates Hedgehog signaling. It features multiorgan tumorigenesis, including basal cell carcinomas (BCCs), jaw keratocysts, skeletal anomalies, and calcified falx cerebri. Patients face heightened risks of medulloblastoma (5% in childhood), cardiac/ovarian fibromas, and palmoplantar pits [1][7][16].
Therapies
Surgical excision/curettage for BCCs and jaw cysts; Mohs surgery for high-risk lesions [8][12][13]
Hedgehog inhibitors (vismodegib/sonidegib) for advanced BCCs, though resistance develops in 15-35% [3][5][9]
Photodynamic therapy for superficial BCCs and radiation avoidance due to carcinogenesis risk [8][12][17]
Categories: rare developmental anomalies during embryogenesis, rare genetic diseases, rare neoplastic diseases, rare neurological diseases, rare skin diseases
Research Papers
638 drug discovery papers about Gorlin syndrome, with 1 next-in-class emerging drug candidate forecasted to outperform the average preclinical success rate. Recent publications:
638 drug discovery papers about Gorlin syndrome, with 1 next-in-class emerging drug candidate forecasted to outperform the average preclinical success rate. Recent publications:
categories:
Small molecules
cell therapies
2022-12-06 | LY6D marks pre-existing resistant basosquamous tumor subpopulations
Abstract Improved response to canonical therapies requires a mechanistic understanding of dynamic tumor heterogeneity by identifying discrete cellular populations with enhanced cellular plasticity. We have previously demonstrated distinct resistance mechanisms in skin basal cell carcinomas, but a comprehensive understanding of the cellular states and markers associated with these populations remains poorly understood. Here we identify a pre-existing resistant cellular population in naive basal cell carcinoma tumors marked by the surface marker LY6D. LY6D + tumor cells are spatially localized and possess basal cell carcinoma and squamous cell carcinoma-like features. Using computational tools, organoids, and spatial tools, we show that LY6D + basosquamous cells represent a persister population lying on a central node along the skin lineage-associated spectrum of epithelial states with local environmental and applied therapies determining the kinetics of accumulation. Surprisingly, LY6D + basosquamous populations exist in many epithelial tumors, such as pancreatic adenocarcinomas, which have poor outcomes. Overall, our results identify the resistant LY6D + basosquamous population as an important clinical target and suggest strategies for future therapeutic approaches to target them.
2018-08-22 | Oocyte Cryopreservation before Tumorectomy in Gorlin-Goltz Syndrome with Recurrent Ovarian Fibroma: A Case Report
Background: Gorlin-Goltz syndrome is a very rare syndrome that reportedly occurs in 1 of 235,800 people in Japan. The proportion of women with Gorlin-Goltz syndrome complicated with an ovarian fibroma ranges from 12.5% to 17.0%. Some surgical cases of Gorlin-Goltz syndrome with an ovarian tumor have been reported. However, no studies have mentioned subsequent fertility preservation by using oocyte cryopreservation process. Case: In this case report, the patient with Gorlin-Goltz syndrome underwent laparotomy for bilateral ovarian fibrothecoma at 15 years of age. At 20 years of age, a recurrent ovarian tumor was detected in the remaining ovary. During the follow-up, we detected an increase in its size. As tumor torsion requiring left salpingo-oophorectomy was possible, tumorectomy was considered. However, her anti-Müllerian hormone level was low. As she was at risk for premature ovarian failure after tumorectomy, we planned to cryopreserve her oocytes to preserve her fertility before tumorectomy. Outcome: When the patient underwent surgery, the diameter of her left ovarian tumor was found to have increased to 56 mm. Egg collection was performed twice, and two oocytes were cryopreserved. Subsequently, she underwent tumorectomy of the left ovarian tumor. No recurrence has been observed. Conclusion: If a recurrent ovarian tumor is detected in patients with Gorlin-Goltz syndrome and a low anti-Müllerian hormone level, cryopreservation of oocytes before tumorectomy may be effective for preserving their fertility.
2016-12-02 | Use of anteromedial thigh perforator flap and immunological implications of Gorlin-Goltz syndrome: a case study
Gorlin-Goltz syndrome is mainly characterised by the development of numerous multicentric and relapsing cutaneous basal cell carcinomas (BCCs). A major problem for patients with Gorlin-Goltz syndrome is the large amount of BCCs that can invade the deep underlying structures, especially the face. Here, we describe the case of a 23-year-old male affected by Gorlin-Goltz syndrome. He had recurrent BCCs on a hairless scalp and dorsum since he was 17 years old and underwent four surgical procedures to excise BCCs, including a reconstruction with anteromedial thigh perforator flap. For each of the surgical procedures, a phenotypic study on peripheral blood mononuclear cells using flow cytometry was performed on the same day of surgery, and on days 7, 14 and 21 after surgery. The role of the tumour-specific cytolytic immune response as a potential future treatment of syndromic BCCs and its trend in relation to surgical ablation of large portions of tumour tissue was examined, and the cosmetic and therapeutic results are shown.
2008-08-22 | Microneedle Arrays Permit Enhanced Intradermal Delivery of a Preformed Photosensitizer
Abstract Silicon microneedle (MN) arrays were used to puncture excised murine and porcine skin in vitro and transdermal and intradermal delivery of meso‐tetra ( N ‐methyl‐4‐pyridyl) porphine tetra tosylate (TMP) investigated using topical application of a bioadhesive patch containing 19 mg TMP cm −2 . Animal studies, using nude mice, were then conducted to investigate the in vivo performance of the bioadhesive patch following MN puncture of skin. MN puncture significantly enhanced both intradermal and transdermal delivery of TMP in vitro , though the total amounts of drug delivered (25.22% into porcine skin and 0.07% across murine skin) were still quite small in each case. Notwithstanding this, in vivo experiments showed that MN puncture was capable of permitting a prolonged increase in TMP fluorescence at the site of application. Importantly, fluorescence was negligible at distant sites, meaning systemic delivery of the drug was not sufficient to induce TMP accumulation other than at the application site. In this study we have conclusively demonstrated proof of principle; MN puncture allows true intradermal delivery of a preformed photosensitizer in animal skin models in vitro and in vivo . Importantly, transdermal delivery was much reduced in each case. Increasing MN density would allow increased amounts of photosensitizer to be delivered. However, as MNs create aqueous pores in the stratum corneum, a preformed photosensitizer must possess at least some degree of water solubility in order to permit enhanced intradermal delivery in this way. We believe that use of MN array technology in this way has the potential to significantly improve topical photodynamic therapy of skin tumors.
2006-08-24 | Coverage of the cranium with latissimus dorsi in the recurrent basal cell carcinoma of Gorlin syndrome: for protection against clinical invasion.
Gorlin's syndrome is a genetic disorder of autosomal dominant inheritance with characterized primarily by five major findings: multiple basal cell carsinoma (BCC), jaw cysts, pits on the palms and soles, ectopic calcification of the falx cerebri and skeletal anomalies. BCC is the most frequently accompanied tumor with this syndrome. The risk of recurrent BCC with Gorlin's syndrome is higher than non-syndromic BCC. The authors present a 25-year-old man affected by recurrent basal cell carcinoma on the scalp. The patient was treated by excising the tumor and reconstructing latissimus dorsi musculocutaneous flap. The fascial component of the scalp forms an additional layer between the skin and the cranium. This structure creates an extra distance before the invasion into the cranium which needs to be penetrated by the skin tumor. Muscle tissue transformed in scalp reconstruction imitates the fascia layer in forming an additional layer against the invasion of skin tumors such as recurrent BCC into the cranium. Free flap reconstruction for recurrent scalp BCC can be best therapy model at Gorlin's syndrome.
small molecules
2026-09-03 | Fractionated Ablative Laser-Assisted Methyl Aminolevulinate Photodynamic Therapy with 532-nm KTP Activation for Multiple Basal Cell Carcinomas in Gorlin Syndrome: A Case Report
Basal cell carcinomas (BCCs) in Gorlin syndrome are often numerous, recurrent, and difficult to manage with repeated surgery because cumulative procedures may produce substantial morbidity, scarring, and disfigurement. Methyl aminolevulinate photodynamic therapy (MAL-PDT) is an established tissue-sparing option for superficial BCC and selected thin nodular BCCs, with favourable cosmetic outcomes and the ability to treat multiple lesions during a single session. Unfortunately, conventional photodynamic therapy (PDT) is limited by inadequate photosensitizer penetration into thicker tumours and by treatment-related pain during illumination time. This report describes a novel laser-assisted PDT protocol for multiple BCCs in Gorlin syndrome that combines fractionated ablative laser pretreatment to enhance intralesional penetration of methyl aminolevulinate (MAL), followed by a 3-hour incubation and photoactivation with a 532-nm KTP vascular laser rather than conventional blue or red light. The conceptual novelty of this approach is twofold: first, ablative fractional laser creates vertical channels that markedly increase delivery of topical photosensitizer into deeper tissue; second, the activating vascular laser may plausibly provide dual benefit by both activating accumulated protoporphyrin IX (PpIX) and exerting direct vascular-directed effects that have independently shown efficacy against BCCs, all while potentially reducing treatment-related pain. Following treatment, the patient achieved excellent lesion-level clearance with no scarring or dyspigmentation, no reported pain, and 94% (51/54) lesion-level clearance at 12 months. These findings suggest that fractional ablative laser-assisted MAL delivery combined with KTP-mediated activation may represent a promising office-based, scar-sparing strategy for selected patients with multiple BCCs, especially when repeat surgery is undesirable.
2026-07-28 | Photodynamic Therapy for Keratinocytic Precancerous Lesions and Non-Melanoma Skin Cancer: A Narrative Review.
Photodynamic therapy (PDT) is a cornerstone non-invasive modality for keratinocytic precancers and non-melanoma skin cancer (NMSC), leveraging selective photosensitizer accumulation, light activation, and reactive oxygen species (ROS) generation. This narrative review synthesized literature from major databases (2010-2025) to comprehensively evaluate PDT's molecular mechanisms, innovative optimization protocols, and clinical efficacy across actinic keratosis (AK), field cancerization, Bowen's disease (BD), basal cell carcinoma (BCC), and invasive squamous cell carcinoma (cSCC). The evidence highlights frontline clinical maturity and excellent cosmetic outcomes for superficial lesions (AK, field cancerization, superficial BCC, and BD), with daylight PDT offering a virtually painless alternative for widespread dysplasia. However, therapeutic reliability decreases in thick nodular, pigmented, or high-risk lesions due to optical barriers and tissue hypoxia. To overcome these limitations, advanced physical and chemical enhancements-such as ablative fractional lasers, iron chelators, epigenetically enhanced PDT (ePDT), and targeted nanocarriers-are actively reshaping drug delivery and cellular susceptibility. Furthermore, cyclic PDT serves as an indispensable tissue-sparing intervention for organ transplant recipients and Gorlin syndrome patients. In conclusion, while PDT is highly effective for superficial neoplasias, precise histopathological stratification and the integration of nanomedicine are critical to overcoming current biological barriers in aggressive dermatological malignancies.
2026-05-13 | Transforming Outcomes in Advanced Basal Cell Carcinoma: The Evolving Role of Systemic Therapy.
Advanced basal cell carcinoma (aBCC) is an uncommon but severe presentation of basal cell carcinoma, including those with extensive local invasion and metastasis. Curative local treatments are often not feasible for patients with aBCC and the introduction of Hedgehog pathway inhibitors (HHIs) expanded the therapeutic landscape. First-line therapy with the HHIs, vismodegib and sonidegib, provides effective disease control, and may enable the preservation of function in locally complex cases. Also, it offers the possibility to simultaneously treat multiple tumors, such as in patients with basal cell nevus syndrome. However, long-term HHI therapy is limited by toxicity, heterogeneous responses and the emergence of resistance or tolerance. For selected patients with progression or limited tolerability under HHIs, immune checkpoint inhibition has emerged as an established second-line option, offering durable responses in a subset of patients. However, immune-related adverse events remain a concern. To address the shortcomings of systemic therapy and improve the long-term disease control of patients with aBCC, ongoing research focuses on alternative dosing strategies, integration of combination or novel systemic agents and the development of predictive biomarkers. This review provides a comprehensive, clinically oriented overview of the evidence on systemic treatment for aBCC, emphasizing efficacy, safety, resistance mechanisms, and therapeutic strategies.
2026-03-18 | A Novel Mutation of PTCHD3 Identified in a Chinese Family with Basal Cell Nevus Syndrome-associated Odontogenic Keratocysts.
To elucidate the genetic aetiology of basal cell nevus syndrome (BCNS) within a Chinese cohort featuring an affected family. The patient's and their parents' peripheral venous blood was collected for high-throughput exon sequencing. Tools such as Mutation Taster2 and SIFT were used to predict mutation harmfulness and obtain the most suspected pathogenic mutation. GeneMANIA was employed to construct the protein interaction network between the gene and Hedgehog pathway. SWISS-MODEL was used to simulate the bioinformatics structure changes of the mutant gene and HDOCK was utilised to simulate molecular docking. Finally, the function of this gene mutation was verified by q-PCR. A novel pathogenic mutation of PTCHD3 was identified. CCDC57 in the Hedgehog pathway was found to interact with PTCHD3 through GeneMANIA. SWISS-MODEL predicted that PTCHD3 mutation would lead to changes in the 3D structure of the protein. HDOCK showed that the binding between PTCHD3 and CCDC57 was significantly reduced. The mutation of PTCHD3 may result in decreased binding ability of PTCHD3 to CCDC57, activate the Hedgehog pathway and lead to the occurrence of the disease. The diagnosis and treatment pathway for clinical discovery of OKC was provided. A novel pathogenic mutation of PTCHD3 was identified in Chinese BCNS patients. PTCHD3 may play a role in various biological processes mediated by the Hedgehog signalling pathway and is expected to be a new potential therapeutic target.
2026-02-11 | Successful Alternative Administration of Sonidegib in a Patient with Gorlin-Goltz Syndrome and Dysphagia: A Case Report.
Activation of the Hedgehog (HH) pathway is a key factor in the development of basal cell carcinoma. Approved HH pathway inhibitors, like vismodegib and sonidegib, are supplied in capsule form. Patients who suffer from dysphagia may have problems swallowing these medications. This case report describes the successful use of an alternative administration of sonidegib in a patient with Gorlin-Goltz syndrome and dysphagia.
oligonucleotides
2023-03-13 | Intralesional Treatment of Basal Cell Carcinoma in a Genetically Inducible Mouse Model
Introduction: Patients with nevoid basal cell carcinoma syndrome (NBCCS), also termed Gorlin syndrome, develop numerous basal cell carcinomas (BCCs). Current treatment options include systemic hedgehog pathway inhibitors, with significant side effects when used long term, and multiple surgeries with the risk of scarring and sometimes even disfigurement over the long term. We have developed an intralesional treatment for BCC based on the intracellular delivery of an antisense oligonucleotide (ASO) targeting Gli1, the main protein active in the hedgehog pathway responsible for BCC. To test the efficacy of our treatment, we developed an inducible NBCCS-like mouse model, genetically modified at the level of the expression of the Ptch1 and p53 genes in the skin.
Methods: The inducible mouse model uses Ptch1- and P53-knockdown mice irradiated with UVB three times a week until BCCs appear. These BCCs were treated once or twice a week with injections of an antisense oligonucleotide (ASO) targeting the production of the Gli1 protein, with and without the use of a peptide (the “Feldan shuttle") designed to introduce the ASO into the tumor cells. The evolution of the tumors was monitored several times a week with caliper measurements and photography. Following the treatments, the tumor site tissue was harvested and analyzed by both routine (H&E) and specialized (IHC, IF) histologic methods .
Results: Intralesional treatment of BCCs in the inducible mouse model using the ASO and peptide combination (FLD103) resulted in rapid and marked tumor regression, and sometimes complete eradication, over a few weeks. In addition, healthy perilesional skin appeared unaffected by the treatment, demonstrating targeted treatment specificity. The healed skin appeared grossly normal. Histologic examination of the treated sites after recovery showed no residual BCC as well as complete healing of the epidermis, dermis and subcutaneous tissue. We also observed that intralesional treatment with the ASO alone is not associated with tumor regression and in fact permits continued tumor growth.
Conclusion: We have demonstrated the utility of a specific intralesional treatment for BCC in a genetically inducible mouse model. This alternative and novel treatment produces rapid results with normal healing of the treated site. This treatment could offer an attractive option for patients with multiple BCCs who wish to avoid systemic treatments or multiple surgeries.
2005-10-01 | Down-regulation of SMT3A gene expression in association with DNA synthesis induction after X-ray irradiation in nevoid basal cell carcinoma syndrome (NBCCS) cells
Fibroblast cells derived from nevoid basal carcinoma syndrome (NBCCS) patients show increased levels of DNA synthesis after X-ray irradiation. Genes, whose expression is modulated in association with the DNA synthesis induction, were searched by using PCR-based mRNA differential display analysis in one of the NBCCS cell lines, NBCCS1 cells. Decreased levels of SMT3A gene expression were found in X-ray-irradiated NBCCS1 cells. This decrease was also shown by RT-PCR analysis in another cell line, NBCCS3 cells. In addition to NBCCS cells, normal fibroblast cells showed the DNA synthesis induction after X-ray irradiation when they were treated with antisense oligonucleotides (AO) for SMT3A. However, treatment of normal fibroblasts with the random oligonucleotides (RO) resulted in decreased levels of DNA synthesis after X-ray irradiation. Thus, down-regulation of SMT3A gene expression may be involved in the DNA synthesis induction after X-ray irradiation in the NBCCS cells at least tested.
2001-10-01 | Prognostic Factors and Secondary Malignancies in Childhood Medulloblastoma
Little is known of the outcome of long-term survivors of childhood medulloblastoma, one of the most common pediatric malignancies. To determine the potential for secondary malignancies, a retrospective outcome evaluation in 88 consecutive cases of childhood medulloblastoma was performed.The records of all patients with childhood medulloblastoma diagnosed at Children's National Medical Center in Washington, DC from 1969 through 1997 were reviewed.The median follow-up time was 92 months (range 6-257 months). Overall survival was 59% at 5 years and 52% at 10 years. Univariate analysis showed that age at diagnosis, extent of surgical resection, presence of metastatic disease (M stage), ventriculoperitoneal shunt placement within 30 days from diagnosis, posterior fossa radiation therapy dose, and adjuvant chemotherapy significantly affected survival. Although based on small numbers, the risk of second neoplasms was significantly increased in this cohort. Multiple basal cell carcinomas developed in the areas of radiation therapy in two patients; these patients also had nevoid basal cell carcinoma syndrome (NBCCS) diagnosed. One other patient died of glioblastoma multiforme 8 years after treatment of medulloblastoma. A meningioma developed in another patient 10 years after radiation therapy.As survival of medulloblastoma patients improves, increased surveillance regarding secondary malignancies is required, especially because radiation-induced tumors may occur many years after treatment. These two cases of NBCCS also illustrate the importance of considering the concomitant diagnosis of NBCCS in young patients with medulloblastoma. In those patients, alternative therapy should be considered to minimize radiation therapy-related sequelae.
gene therapies
2026-08-26 | Gorlin–Goltz Syndrome in an Elderly Patient: Clinical Presentation and Diagnosis
An elderly man presented with extensive cutaneous involvement, with >30 lesions (3 mm to 9 cm), including hyperpigmented papules, plaques, and nodules on the face, neck, and trunk.The lesions had been present since the age of 20 years.Family history was unremarkable .A dominant plaque on the right side of the face showed rolled borders with focal atrophy and variegated pigmentation [Figure 1].Multiple cystic, nontender, mobile nodules on bilateral eyelids and nose were seen [Figure 2], which were later confirmed as epidermoid cysts.Dermoscopy showed ulceration, maple-leaf-like areas, concentric structures, a blue-white veil, blue-gray nests, and globules [Figure 3a ].Histopathology revealed acanthotic stratified squamous epithelium with a pigmented basal layer, elongated rete ridges, basaloid tumor cells arranged in cords and nests with peripheral palisading and a myxoid stroma [Figure 3b], consistent with basal cell carcinoma.Computed tomography of the head and neck demonstrated calcifications in the falcine, parafalcine, tentorial, and basal ganglia regions [Figure 4a], along with a solitary, unilocular, radiolucent, expansile odon-
2026-06-02 | Tumor Burden and Management of Basal Cell Carcinoma in Korean Patients with Gorlin Syndrome
Supplemental data for the article entitled "Tumor Burden and Management of Basal Cell Carcinoma in Korean Patients with Gorlin Syndrome"
2026-02-12 | Multiple endocrine neoplasias-2В, the description of the case
Background. The term "Multiple Endocrine Neoplasias" (MEN) refers to a group of inherited autosomal dominant syndromes caused by tumors or hyperplasia of several endocrine glands. Traditionally, two types of this pathology are distinguished: MEN-1 and MEN-2. The latter is further divided into three variants: hereditary medullary thyroid cancer; MEN-2A – Sipple syndrome; and MEN-2B – Gorlin syndrome. MEN-2B is based on a mutation in the RET gene, located on the 10th chromosome. Mutation of this gene is usually accompanied by uncontrolled cell proliferation, primarily in the cell lines of medullary thyroid cancer and pheochromocytoma. The primary manifestation of MEN-2B is medullary thyroid cancer, with pheochromocytoma developing in half of the patients. Gorlin syndrome has several features that distinguish it from other MEN syndromes. Thus, it is the rarest of the neoplasias. It has the most serious prognosis – most untreated patients die before the age of 30. This pathology also has distinct external manifestations allowing for clinical suspicion. Patients exhibit characteristic skull shape changes, spinal deformities, and neuromas of the tongue, oropharynx, and eyelids. In two-thirds of patients, pathology of the large intestine develops – megacolon or Hirschsprung's syndrome. A number of patients have eye pathology, with one of the most frequent manifestations being dry eye syndrome. Results. This article presents a case of Gorlin syndrome diagnosed in an 18-year-old young man. Unusual external manifestations were the reason for his hospitalization for further diagnostics. Analysis of visual symptoms combined with identified nodular changes in the thyroid gland suggested MEN-2B syndrome, which was subsequently confirmed by additional investigative methods. The patient was found to have a significant increase in the level of calcitonin in the blood; a fine-needle biopsy of the thyroid nodule yielded cytological data suspicious for thyroid cancer; a computer tomography scan of the abdomen revealed signs of megacolon. The patient's parents showed no phenotypic signs of multiple endocrine neoplasia syndrome, which suggested that the pathology in this patient arose as a result of a mutation.
2026-01-01 | A case of Basal Cell Naevus Syndrome in a 40-year-old male with childhood medulloblastoma and multiple recurrent BCC
Background: Gorlin Syndrome is a rare autosomal dominant condition associated with multiple basal cell carcinomas (BCCs), palmar/plantar pits, odontogenic keratocysts, skeletal anomalies, and increased risk of medulloblastoma.
2025-12-31 | Gorlin-Goltz Syndrome: A Case Series Highlighting Oral and Maxillofacial Presentations
Gorlin-Goltz Syndrome: A Case Series Highlighting Oral and Maxillofacial PresentationsAbstractObjective: Gorlin–Goltz syndrome (GGS) is a rare autosomal dominant disorder characterized by multisystem involvement and marked phenotypic variability, ofte
other
2025-09-07 | Role for long term treatment in NMOSD induced by the immune checkpoint inhibitor cemiplimab.
We present the case of a 54-year-old patient treated with cemiplimab, an immune checkpoint inhibitor (ICI), for multiple basal cell carcinomas in the context of Gorlin Goltz syndrome. Gorlin Goltz syndrome is an autosomal dominant multisystem disorder characterized, among other features, by multiple early-onset basal cell carcinomas (BCCs). After receiving Cemiplimab, she developed aquaporin-4 antibody (AQP4-Ab) positive neuromyelitis optica spectrum disorder (NMOSD). While several case reports have documented NMOSD induced by other ICIs, this is the first case associated with cemiplimab. Although guidelines exist for the acute treatment of a first relapse of ICI-induced NMOSD, long-term management to prevent new relapses remains challenging. We believe that these patients require maintenance therapy to prevent future relapses and propose rituximab or tocilizumab as suitable options.
2024-11-06 | Use of Anti-PD1 Blockade After Hedgehog Inhibitors or as First-Line Therapy for Gorlin Syndrome
This case series examines treatment with anti–programmed cell death 1 (PD1) immunotherapy for patients with basal cell nevus syndrome.
2018-06-26 | Effective anti-programmed death-1 therapy in a SUFU-mutated patient with Gorlin-Goltz syndrome.
We present the case of a 77‐year‐old male patient with more than 50 basal cell carcinomas on the head and upper trunk. The patient did not respond to several lines of treatment, including surgery, imiquimod, retinoids, itraconazole and therapy with the hedgehog inhibitor vismodegib. The patient responded well to off‐label therapy with the anti‐programmed death‐1 antibody pembrolizumab after four infusions.
cell therapies
2022-12-06 | LY6D marks pre-existing resistant basosquamous tumor subpopulations
Abstract Improved response to canonical therapies requires a mechanistic understanding of dynamic tumor heterogeneity by identifying discrete cellular populations with enhanced cellular plasticity. We have previously demonstrated distinct resistance mechanisms in skin basal cell carcinomas, but a comprehensive understanding of the cellular states and markers associated with these populations remains poorly understood. Here we identify a pre-existing resistant cellular population in naive basal cell carcinoma tumors marked by the surface marker LY6D. LY6D + tumor cells are spatially localized and possess basal cell carcinoma and squamous cell carcinoma-like features. Using computational tools, organoids, and spatial tools, we show that LY6D + basosquamous cells represent a persister population lying on a central node along the skin lineage-associated spectrum of epithelial states with local environmental and applied therapies determining the kinetics of accumulation. Surprisingly, LY6D + basosquamous populations exist in many epithelial tumors, such as pancreatic adenocarcinomas, which have poor outcomes. Overall, our results identify the resistant LY6D + basosquamous population as an important clinical target and suggest strategies for future therapeutic approaches to target them.
2018-08-22 | Oocyte Cryopreservation before Tumorectomy in Gorlin-Goltz Syndrome with Recurrent Ovarian Fibroma: A Case Report
Background: Gorlin-Goltz syndrome is a very rare syndrome that reportedly occurs in 1 of 235,800 people in Japan. The proportion of women with Gorlin-Goltz syndrome complicated with an ovarian fibroma ranges from 12.5% to 17.0%. Some surgical cases of Gorlin-Goltz syndrome with an ovarian tumor have been reported. However, no studies have mentioned subsequent fertility preservation by using oocyte cryopreservation process. Case: In this case report, the patient with Gorlin-Goltz syndrome underwent laparotomy for bilateral ovarian fibrothecoma at 15 years of age. At 20 years of age, a recurrent ovarian tumor was detected in the remaining ovary. During the follow-up, we detected an increase in its size. As tumor torsion requiring left salpingo-oophorectomy was possible, tumorectomy was considered. However, her anti-Müllerian hormone level was low. As she was at risk for premature ovarian failure after tumorectomy, we planned to cryopreserve her oocytes to preserve her fertility before tumorectomy. Outcome: When the patient underwent surgery, the diameter of her left ovarian tumor was found to have increased to 56 mm. Egg collection was performed twice, and two oocytes were cryopreserved. Subsequently, she underwent tumorectomy of the left ovarian tumor. No recurrence has been observed. Conclusion: If a recurrent ovarian tumor is detected in patients with Gorlin-Goltz syndrome and a low anti-Müllerian hormone level, cryopreservation of oocytes before tumorectomy may be effective for preserving their fertility.
2016-12-02 | Use of anteromedial thigh perforator flap and immunological implications of Gorlin-Goltz syndrome: a case study
Gorlin-Goltz syndrome is mainly characterised by the development of numerous multicentric and relapsing cutaneous basal cell carcinomas (BCCs). A major problem for patients with Gorlin-Goltz syndrome is the large amount of BCCs that can invade the deep underlying structures, especially the face. Here, we describe the case of a 23-year-old male affected by Gorlin-Goltz syndrome. He had recurrent BCCs on a hairless scalp and dorsum since he was 17 years old and underwent four surgical procedures to excise BCCs, including a reconstruction with anteromedial thigh perforator flap. For each of the surgical procedures, a phenotypic study on peripheral blood mononuclear cells using flow cytometry was performed on the same day of surgery, and on days 7, 14 and 21 after surgery. The role of the tumour-specific cytolytic immune response as a potential future treatment of syndromic BCCs and its trend in relation to surgical ablation of large portions of tumour tissue was examined, and the cosmetic and therapeutic results are shown.
2008-08-22 | Microneedle Arrays Permit Enhanced Intradermal Delivery of a Preformed Photosensitizer
Abstract Silicon microneedle (MN) arrays were used to puncture excised murine and porcine skin in vitro and transdermal and intradermal delivery of meso‐tetra ( N ‐methyl‐4‐pyridyl) porphine tetra tosylate (TMP) investigated using topical application of a bioadhesive patch containing 19 mg TMP cm −2 . Animal studies, using nude mice, were then conducted to investigate the in vivo performance of the bioadhesive patch following MN puncture of skin. MN puncture significantly enhanced both intradermal and transdermal delivery of TMP in vitro , though the total amounts of drug delivered (25.22% into porcine skin and 0.07% across murine skin) were still quite small in each case. Notwithstanding this, in vivo experiments showed that MN puncture was capable of permitting a prolonged increase in TMP fluorescence at the site of application. Importantly, fluorescence was negligible at distant sites, meaning systemic delivery of the drug was not sufficient to induce TMP accumulation other than at the application site. In this study we have conclusively demonstrated proof of principle; MN puncture allows true intradermal delivery of a preformed photosensitizer in animal skin models in vitro and in vivo . Importantly, transdermal delivery was much reduced in each case. Increasing MN density would allow increased amounts of photosensitizer to be delivered. However, as MNs create aqueous pores in the stratum corneum, a preformed photosensitizer must possess at least some degree of water solubility in order to permit enhanced intradermal delivery in this way. We believe that use of MN array technology in this way has the potential to significantly improve topical photodynamic therapy of skin tumors.
2006-08-24 | Coverage of the cranium with latissimus dorsi in the recurrent basal cell carcinoma of Gorlin syndrome: for protection against clinical invasion.
Gorlin's syndrome is a genetic disorder of autosomal dominant inheritance with characterized primarily by five major findings: multiple basal cell carsinoma (BCC), jaw cysts, pits on the palms and soles, ectopic calcification of the falx cerebri and skeletal anomalies. BCC is the most frequently accompanied tumor with this syndrome. The risk of recurrent BCC with Gorlin's syndrome is higher than non-syndromic BCC. The authors present a 25-year-old man affected by recurrent basal cell carcinoma on the scalp. The patient was treated by excising the tumor and reconstructing latissimus dorsi musculocutaneous flap. The fascial component of the scalp forms an additional layer between the skin and the cranium. This structure creates an extra distance before the invasion into the cranium which needs to be penetrated by the skin tumor. Muscle tissue transformed in scalp reconstruction imitates the fascia layer in forming an additional layer against the invasion of skin tumors such as recurrent BCC into the cranium. Free flap reconstruction for recurrent scalp BCC can be best therapy model at Gorlin's syndrome.
small molecules
2026-09-03 | Fractionated Ablative Laser-Assisted Methyl Aminolevulinate Photodynamic Therapy with 532-nm KTP Activation for Multiple Basal Cell Carcinomas in Gorlin Syndrome: A Case Report
Basal cell carcinomas (BCCs) in Gorlin syndrome are often numerous, recurrent, and difficult to manage with repeated surgery because cumulative procedures may produce substantial morbidity, scarring, and disfigurement. Methyl aminolevulinate photodynamic therapy (MAL-PDT) is an established tissue-sparing option for superficial BCC and selected thin nodular BCCs, with favourable cosmetic outcomes and the ability to treat multiple lesions during a single session. Unfortunately, conventional photodynamic therapy (PDT) is limited by inadequate photosensitizer penetration into thicker tumours and by treatment-related pain during illumination time. This report describes a novel laser-assisted PDT protocol for multiple BCCs in Gorlin syndrome that combines fractionated ablative laser pretreatment to enhance intralesional penetration of methyl aminolevulinate (MAL), followed by a 3-hour incubation and photoactivation with a 532-nm KTP vascular laser rather than conventional blue or red light. The conceptual novelty of this approach is twofold: first, ablative fractional laser creates vertical channels that markedly increase delivery of topical photosensitizer into deeper tissue; second, the activating vascular laser may plausibly provide dual benefit by both activating accumulated protoporphyrin IX (PpIX) and exerting direct vascular-directed effects that have independently shown efficacy against BCCs, all while potentially reducing treatment-related pain. Following treatment, the patient achieved excellent lesion-level clearance with no scarring or dyspigmentation, no reported pain, and 94% (51/54) lesion-level clearance at 12 months. These findings suggest that fractional ablative laser-assisted MAL delivery combined with KTP-mediated activation may represent a promising office-based, scar-sparing strategy for selected patients with multiple BCCs, especially when repeat surgery is undesirable.
2026-07-28 | Photodynamic Therapy for Keratinocytic Precancerous Lesions and Non-Melanoma Skin Cancer: A Narrative Review.
Photodynamic therapy (PDT) is a cornerstone non-invasive modality for keratinocytic precancers and non-melanoma skin cancer (NMSC), leveraging selective photosensitizer accumulation, light activation, and reactive oxygen species (ROS) generation. This narrative review synthesized literature from major databases (2010-2025) to comprehensively evaluate PDT's molecular mechanisms, innovative optimization protocols, and clinical efficacy across actinic keratosis (AK), field cancerization, Bowen's disease (BD), basal cell carcinoma (BCC), and invasive squamous cell carcinoma (cSCC). The evidence highlights frontline clinical maturity and excellent cosmetic outcomes for superficial lesions (AK, field cancerization, superficial BCC, and BD), with daylight PDT offering a virtually painless alternative for widespread dysplasia. However, therapeutic reliability decreases in thick nodular, pigmented, or high-risk lesions due to optical barriers and tissue hypoxia. To overcome these limitations, advanced physical and chemical enhancements-such as ablative fractional lasers, iron chelators, epigenetically enhanced PDT (ePDT), and targeted nanocarriers-are actively reshaping drug delivery and cellular susceptibility. Furthermore, cyclic PDT serves as an indispensable tissue-sparing intervention for organ transplant recipients and Gorlin syndrome patients. In conclusion, while PDT is highly effective for superficial neoplasias, precise histopathological stratification and the integration of nanomedicine are critical to overcoming current biological barriers in aggressive dermatological malignancies.
2026-05-13 | Transforming Outcomes in Advanced Basal Cell Carcinoma: The Evolving Role of Systemic Therapy.
Advanced basal cell carcinoma (aBCC) is an uncommon but severe presentation of basal cell carcinoma, including those with extensive local invasion and metastasis. Curative local treatments are often not feasible for patients with aBCC and the introduction of Hedgehog pathway inhibitors (HHIs) expanded the therapeutic landscape. First-line therapy with the HHIs, vismodegib and sonidegib, provides effective disease control, and may enable the preservation of function in locally complex cases. Also, it offers the possibility to simultaneously treat multiple tumors, such as in patients with basal cell nevus syndrome. However, long-term HHI therapy is limited by toxicity, heterogeneous responses and the emergence of resistance or tolerance. For selected patients with progression or limited tolerability under HHIs, immune checkpoint inhibition has emerged as an established second-line option, offering durable responses in a subset of patients. However, immune-related adverse events remain a concern. To address the shortcomings of systemic therapy and improve the long-term disease control of patients with aBCC, ongoing research focuses on alternative dosing strategies, integration of combination or novel systemic agents and the development of predictive biomarkers. This review provides a comprehensive, clinically oriented overview of the evidence on systemic treatment for aBCC, emphasizing efficacy, safety, resistance mechanisms, and therapeutic strategies.
2026-03-18 | A Novel Mutation of PTCHD3 Identified in a Chinese Family with Basal Cell Nevus Syndrome-associated Odontogenic Keratocysts.
To elucidate the genetic aetiology of basal cell nevus syndrome (BCNS) within a Chinese cohort featuring an affected family. The patient's and their parents' peripheral venous blood was collected for high-throughput exon sequencing. Tools such as Mutation Taster2 and SIFT were used to predict mutation harmfulness and obtain the most suspected pathogenic mutation. GeneMANIA was employed to construct the protein interaction network between the gene and Hedgehog pathway. SWISS-MODEL was used to simulate the bioinformatics structure changes of the mutant gene and HDOCK was utilised to simulate molecular docking. Finally, the function of this gene mutation was verified by q-PCR. A novel pathogenic mutation of PTCHD3 was identified. CCDC57 in the Hedgehog pathway was found to interact with PTCHD3 through GeneMANIA. SWISS-MODEL predicted that PTCHD3 mutation would lead to changes in the 3D structure of the protein. HDOCK showed that the binding between PTCHD3 and CCDC57 was significantly reduced. The mutation of PTCHD3 may result in decreased binding ability of PTCHD3 to CCDC57, activate the Hedgehog pathway and lead to the occurrence of the disease. The diagnosis and treatment pathway for clinical discovery of OKC was provided. A novel pathogenic mutation of PTCHD3 was identified in Chinese BCNS patients. PTCHD3 may play a role in various biological processes mediated by the Hedgehog signalling pathway and is expected to be a new potential therapeutic target.
2026-02-11 | Successful Alternative Administration of Sonidegib in a Patient with Gorlin-Goltz Syndrome and Dysphagia: A Case Report.
Activation of the Hedgehog (HH) pathway is a key factor in the development of basal cell carcinoma. Approved HH pathway inhibitors, like vismodegib and sonidegib, are supplied in capsule form. Patients who suffer from dysphagia may have problems swallowing these medications. This case report describes the successful use of an alternative administration of sonidegib in a patient with Gorlin-Goltz syndrome and dysphagia.
oligonucleotides
2023-03-13 | Intralesional Treatment of Basal Cell Carcinoma in a Genetically Inducible Mouse Model
Introduction: Patients with nevoid basal cell carcinoma syndrome (NBCCS), also termed Gorlin syndrome, develop numerous basal cell carcinomas (BCCs). Current treatment options include systemic hedgehog pathway inhibitors, with significant side effects when used long term, and multiple surgeries with the risk of scarring and sometimes even disfigurement over the long term. We have developed an intralesional treatment for BCC based on the intracellular delivery of an antisense oligonucleotide (ASO) targeting Gli1, the main protein active in the hedgehog pathway responsible for BCC. To test the efficacy of our treatment, we developed an inducible NBCCS-like mouse model, genetically modified at the level of the expression of the Ptch1 and p53 genes in the skin.
Methods: The inducible mouse model uses Ptch1- and P53-knockdown mice irradiated with UVB three times a week until BCCs appear. These BCCs were treated once or twice a week with injections of an antisense oligonucleotide (ASO) targeting the production of the Gli1 protein, with and without the use of a peptide (the “Feldan shuttle") designed to introduce the ASO into the tumor cells. The evolution of the tumors was monitored several times a week with caliper measurements and photography. Following the treatments, the tumor site tissue was harvested and analyzed by both routine (H&E) and specialized (IHC, IF) histologic methods .
Results: Intralesional treatment of BCCs in the inducible mouse model using the ASO and peptide combination (FLD103) resulted in rapid and marked tumor regression, and sometimes complete eradication, over a few weeks. In addition, healthy perilesional skin appeared unaffected by the treatment, demonstrating targeted treatment specificity. The healed skin appeared grossly normal. Histologic examination of the treated sites after recovery showed no residual BCC as well as complete healing of the epidermis, dermis and subcutaneous tissue. We also observed that intralesional treatment with the ASO alone is not associated with tumor regression and in fact permits continued tumor growth.
Conclusion: We have demonstrated the utility of a specific intralesional treatment for BCC in a genetically inducible mouse model. This alternative and novel treatment produces rapid results with normal healing of the treated site. This treatment could offer an attractive option for patients with multiple BCCs who wish to avoid systemic treatments or multiple surgeries.
2005-10-01 | Down-regulation of SMT3A gene expression in association with DNA synthesis induction after X-ray irradiation in nevoid basal cell carcinoma syndrome (NBCCS) cells
Fibroblast cells derived from nevoid basal carcinoma syndrome (NBCCS) patients show increased levels of DNA synthesis after X-ray irradiation. Genes, whose expression is modulated in association with the DNA synthesis induction, were searched by using PCR-based mRNA differential display analysis in one of the NBCCS cell lines, NBCCS1 cells. Decreased levels of SMT3A gene expression were found in X-ray-irradiated NBCCS1 cells. This decrease was also shown by RT-PCR analysis in another cell line, NBCCS3 cells. In addition to NBCCS cells, normal fibroblast cells showed the DNA synthesis induction after X-ray irradiation when they were treated with antisense oligonucleotides (AO) for SMT3A. However, treatment of normal fibroblasts with the random oligonucleotides (RO) resulted in decreased levels of DNA synthesis after X-ray irradiation. Thus, down-regulation of SMT3A gene expression may be involved in the DNA synthesis induction after X-ray irradiation in the NBCCS cells at least tested.
2001-10-01 | Prognostic Factors and Secondary Malignancies in Childhood Medulloblastoma
Little is known of the outcome of long-term survivors of childhood medulloblastoma, one of the most common pediatric malignancies. To determine the potential for secondary malignancies, a retrospective outcome evaluation in 88 consecutive cases of childhood medulloblastoma was performed.The records of all patients with childhood medulloblastoma diagnosed at Children's National Medical Center in Washington, DC from 1969 through 1997 were reviewed.The median follow-up time was 92 months (range 6-257 months). Overall survival was 59% at 5 years and 52% at 10 years. Univariate analysis showed that age at diagnosis, extent of surgical resection, presence of metastatic disease (M stage), ventriculoperitoneal shunt placement within 30 days from diagnosis, posterior fossa radiation therapy dose, and adjuvant chemotherapy significantly affected survival. Although based on small numbers, the risk of second neoplasms was significantly increased in this cohort. Multiple basal cell carcinomas developed in the areas of radiation therapy in two patients; these patients also had nevoid basal cell carcinoma syndrome (NBCCS) diagnosed. One other patient died of glioblastoma multiforme 8 years after treatment of medulloblastoma. A meningioma developed in another patient 10 years after radiation therapy.As survival of medulloblastoma patients improves, increased surveillance regarding secondary malignancies is required, especially because radiation-induced tumors may occur many years after treatment. These two cases of NBCCS also illustrate the importance of considering the concomitant diagnosis of NBCCS in young patients with medulloblastoma. In those patients, alternative therapy should be considered to minimize radiation therapy-related sequelae.
gene therapies
2026-08-26 | Gorlin–Goltz Syndrome in an Elderly Patient: Clinical Presentation and Diagnosis
An elderly man presented with extensive cutaneous involvement, with >30 lesions (3 mm to 9 cm), including hyperpigmented papules, plaques, and nodules on the face, neck, and trunk.The lesions had been present since the age of 20 years.Family history was unremarkable .A dominant plaque on the right side of the face showed rolled borders with focal atrophy and variegated pigmentation [Figure 1].Multiple cystic, nontender, mobile nodules on bilateral eyelids and nose were seen [Figure 2], which were later confirmed as epidermoid cysts.Dermoscopy showed ulceration, maple-leaf-like areas, concentric structures, a blue-white veil, blue-gray nests, and globules [Figure 3a ].Histopathology revealed acanthotic stratified squamous epithelium with a pigmented basal layer, elongated rete ridges, basaloid tumor cells arranged in cords and nests with peripheral palisading and a myxoid stroma [Figure 3b], consistent with basal cell carcinoma.Computed tomography of the head and neck demonstrated calcifications in the falcine, parafalcine, tentorial, and basal ganglia regions [Figure 4a], along with a solitary, unilocular, radiolucent, expansile odon-
2026-06-02 | Tumor Burden and Management of Basal Cell Carcinoma in Korean Patients with Gorlin Syndrome
Supplemental data for the article entitled "Tumor Burden and Management of Basal Cell Carcinoma in Korean Patients with Gorlin Syndrome"
2026-02-12 | Multiple endocrine neoplasias-2В, the description of the case
Background. The term "Multiple Endocrine Neoplasias" (MEN) refers to a group of inherited autosomal dominant syndromes caused by tumors or hyperplasia of several endocrine glands. Traditionally, two types of this pathology are distinguished: MEN-1 and MEN-2. The latter is further divided into three variants: hereditary medullary thyroid cancer; MEN-2A – Sipple syndrome; and MEN-2B – Gorlin syndrome. MEN-2B is based on a mutation in the RET gene, located on the 10th chromosome. Mutation of this gene is usually accompanied by uncontrolled cell proliferation, primarily in the cell lines of medullary thyroid cancer and pheochromocytoma. The primary manifestation of MEN-2B is medullary thyroid cancer, with pheochromocytoma developing in half of the patients. Gorlin syndrome has several features that distinguish it from other MEN syndromes. Thus, it is the rarest of the neoplasias. It has the most serious prognosis – most untreated patients die before the age of 30. This pathology also has distinct external manifestations allowing for clinical suspicion. Patients exhibit characteristic skull shape changes, spinal deformities, and neuromas of the tongue, oropharynx, and eyelids. In two-thirds of patients, pathology of the large intestine develops – megacolon or Hirschsprung's syndrome. A number of patients have eye pathology, with one of the most frequent manifestations being dry eye syndrome. Results. This article presents a case of Gorlin syndrome diagnosed in an 18-year-old young man. Unusual external manifestations were the reason for his hospitalization for further diagnostics. Analysis of visual symptoms combined with identified nodular changes in the thyroid gland suggested MEN-2B syndrome, which was subsequently confirmed by additional investigative methods. The patient was found to have a significant increase in the level of calcitonin in the blood; a fine-needle biopsy of the thyroid nodule yielded cytological data suspicious for thyroid cancer; a computer tomography scan of the abdomen revealed signs of megacolon. The patient's parents showed no phenotypic signs of multiple endocrine neoplasia syndrome, which suggested that the pathology in this patient arose as a result of a mutation.
2026-01-01 | A case of Basal Cell Naevus Syndrome in a 40-year-old male with childhood medulloblastoma and multiple recurrent BCC
Background: Gorlin Syndrome is a rare autosomal dominant condition associated with multiple basal cell carcinomas (BCCs), palmar/plantar pits, odontogenic keratocysts, skeletal anomalies, and increased risk of medulloblastoma.
2025-12-31 | Gorlin-Goltz Syndrome: A Case Series Highlighting Oral and Maxillofacial Presentations
Gorlin-Goltz Syndrome: A Case Series Highlighting Oral and Maxillofacial PresentationsAbstractObjective: Gorlin–Goltz syndrome (GGS) is a rare autosomal dominant disorder characterized by multisystem involvement and marked phenotypic variability, ofte
other
2025-09-07 | Role for long term treatment in NMOSD induced by the immune checkpoint inhibitor cemiplimab.
We present the case of a 54-year-old patient treated with cemiplimab, an immune checkpoint inhibitor (ICI), for multiple basal cell carcinomas in the context of Gorlin Goltz syndrome. Gorlin Goltz syndrome is an autosomal dominant multisystem disorder characterized, among other features, by multiple early-onset basal cell carcinomas (BCCs). After receiving Cemiplimab, she developed aquaporin-4 antibody (AQP4-Ab) positive neuromyelitis optica spectrum disorder (NMOSD). While several case reports have documented NMOSD induced by other ICIs, this is the first case associated with cemiplimab. Although guidelines exist for the acute treatment of a first relapse of ICI-induced NMOSD, long-term management to prevent new relapses remains challenging. We believe that these patients require maintenance therapy to prevent future relapses and propose rituximab or tocilizumab as suitable options.
2024-11-06 | Use of Anti-PD1 Blockade After Hedgehog Inhibitors or as First-Line Therapy for Gorlin Syndrome
This case series examines treatment with anti–programmed cell death 1 (PD1) immunotherapy for patients with basal cell nevus syndrome.
2018-06-26 | Effective anti-programmed death-1 therapy in a SUFU-mutated patient with Gorlin-Goltz syndrome.
We present the case of a 77‐year‐old male patient with more than 50 basal cell carcinomas on the head and upper trunk. The patient did not respond to several lines of treatment, including surgery, imiquimod, retinoids, itraconazole and therapy with the hedgehog inhibitor vismodegib. The patient responded well to off‐label therapy with the anti‐programmed death‐1 antibody pembrolizumab after four infusions.
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Drug Discovery Landscape
8 orphan drug designations for Gorlin syndrome.
8 orphan drug designations for Gorlin syndrome.
Drug | Therapy type | Orphan designation | Clinical trial status | Sponsor |
|---|---|---|---|---|
Ulinastatin | — | FDA | RNR Biomedical, Inc. | |
Patidegib | small molecules | EMA | Voisin Consulting Life Sciences | |
tin ethyl etiopurpurin | small molecules | FDA | — | Adgero Biopharmaceuticals, Inc |
Itraconazole | small molecules | EMA | Voisin Consulting Life Sciences | |
Recombinant adenovirus carrying the cDNA coding sequence for the human interferon gamma gene | gene therapies | FDA | Ascend Biopharmaceuticals Ltd | |
patidegib | small molecules | FDA | Sol-Gel Technologies, Ltd. | |
Itraconazole | small molecules | FDA | Mayne Pharma LLC | |
Sonidegib phosphate [LDE225] | small molecules | EMA | Novartis Europharm Limited |
“Terminated” – programs with discontinued clinical trials, or with no updates reported for 5 years after completion or 12 years after the last trial started.
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