RARE DISEASE
Porphyria cutanea tarda
Porphyria cutanea tarda
Porphyria cutanea tarda
Synonyms: PCT
Synonyms: PCT
Synonyms: PCT
Drug discovery
0
drugs
With orphan designations
Overview
Porphyria cutanea tarda (PCT) is the most common porphyria, characterized by skin fragility, blistering lesions in sun-exposed areas, and hepatic dysfunction due to hepatic uroporphyrinogen decarboxylase (UROD) deficiency. It arises from iron-mediated oxidative stress and predisposing factors (e.g., hepatitis C, alcohol, estrogen, smoking). Diagnosis involves elevated urinary/plasma porphyrins. Treatment centers on phlebotomy, low-dose antimalarials, and addressing underlying triggers [1][6][10][12].
Categories: rare genetic diseases, rare hepatic diseases, rare inborn errors of metabolism, rare renal diseases, rare skin diseases
Research Papers
315 drug discovery papers about Porphyria cutanea tarda, with 1 first-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
315 drug discovery papers about Porphyria cutanea tarda, with 1 first-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
categories:
Small molecules
small molecules
2026-08-20 | Inhibiting Wnt/β-catenin-mTOR signaling enhances autophagy and porphyrin clearance in murine porphyrias with hepatic involvement.
Porphyrias are rare metabolic disorders arising from defects in heme biosynthesis, leading to accumulation of toxic porphyrin intermediates, mitochondrial dysfunction, and liver injury. Current therapies are limited in efficacy, emphasizing the need for novel treatments. Prior studies showed hepatocyte-specific β-catenin deletion attenuates porphyrin accumulation and liver injury in 3,5-diethoxycarbonyl-1,4-dihydrocollidine (DDC)-induced porphyria. We hypothesized that inhibiting components of the Wnt-β-catenin-glutamine synthesis (GS) pathway reduces heme synthesis and also enhances porphyrin clearance by activating autophagy and improving mitochondrial quality control. We combined pharmacologic Wnt inhibition and hepatocyte-specific GS deletion in murine models of porphyria. Readouts included spatial transcriptomics, targeted metabolomics, immunohistochemistry, confocal mt-Keima imaging, high-resolution respirometry, and transmission electron microscopy. Human liver biopsies and explants from porphyria patients were also examined by dual-label immunohistochemistry. Wnt inhibition during DDC suppressed upregulation of heme biosynthesis genes, reduced porphyrin intermediate accumulation, and enhanced autophagic flux. GS deletion attenuated porphyrin biosynthesis by limiting intracellular glutamine. Wnt and GS deletion produced additive increases in autophagy, restored zonation, and further reduced porphyrin accumulation. Wnt inhibition restored mitophagy, whereas GS deletion primarily improved mitochondrial coupling efficiency. Wnt inhibition also decreased fibrosis in a genetic mouse model of porphyria. Patient samples mirrored murine findings, with heme enzymes and autophagy inversely correlated with β-catenin expression in porphyria cutanea tarda. By disrupting Wnt-GS signaling, we establish a link between increased autophagy, reduced porphyrin formation, and heme pathway regulation in mouse and human liver. These findings identify the Wnt signaling pathway as a potential therapeutic target in porphyria.Abbreviations: ALA: δ-Aminolevulinic acid; AIP: acute intermittent porphyria; ALAS: aminolevulinic acid synthase; ALAD: aminolevulinic acid dehydratase; ALP: alkaline phosphatase: AST: aspartate aminotransferase; ALT: alanine aminotransferase; DAB: 3,3'-diaminobenzidine; DDC: 3,5-diethoxycarbonyl-1,4-dihydrocollidine; EPP: erythropoietic protoporphyria; Fech: ferrochelatase; GAPDH: glyceraldehyde 3-phosphate dehydrogenase; GS: glutamine synthesis; H&E: hematoxylin and eosin: HO-1: heme oxygenase 1; IHC: immunohistochemistry; KO: knockout; LAMP1: lysosomal associated membrane protein 1; LC3: microtubule-associated protein 1 A/1B-light chain 3; mTOR: mechanistic target of rapamycin; PBG: porphobilinogen; PBS: phosphate-buffered saline; PP-IX: protoporphyrin-IX; PCT: porphyria cutanea tarda; RCR: respiratory control ratio; SQSTM1/p62: sequestosome 1; TEM: transmission electron microscopy; Wnt-I: Wnt-C59 (inhibitor).
2026-07-28 | Case Report: HCV-triggered porphyria cutanea tarda in a patient with SEC23B-mutated congenital dyserythropoietic anemia type II.
Porphyria cutanea tarda (PCT) is a hepatic porphyria often triggered by hepatitis C virus (HCV) infection, iron overload, or environmental exposure. Congenital dyserythropoietic anemia type II (CDA II) caused by SEC23B mutations leads to ineffective erythropoiesis and secondary iron accumulation. We report a 34-year-old man with genetically confirmed SEC23B-mutated CDA II who developed photosensitive bullae associated with chronic HCV genotype 1b infection, hyperbilirubinemia, and severe iron overload. Urinary porphyrins were positive, and skin biopsy showed subepidermal bullae with PAS-positive deposits, supporting the diagnosis of PCT. After unsuccessful therapy with hydroxychloroquine, treatment with sofosbuvir/velpatasvir achieved sustained virologic response, resolution of skin lesions, and marked ferritin reduction. This case illustrates that viral and metabolic stressors can trigger PCT in CDA II patients with possible hepatic involvement, underscoring the importance of recognizing combined genetic and infectious factors in rare hematologic disorders.
2026-03-24 | Solution of Diseases by Bloodletting and Controlling of Laboratory Diagnosis Results
A basic component of complementary and alternative medicine, bloodletting is also referred to as blood cupping (CP) or cupping therapy (CPT) and blood-letting puncture (CP), which refers to a superficial needle prick in the skin. In East Asia, BL or CPT is a non-medical treatment that is referred to as traditional therapy. Insulin-resistant iron overload syndrome, ischemic stroke, hemochromatosis, iron, external rheumatism, psoriasis, metabolic syndrome, and mental pain in patients with migraine porphyria cutanea-tarda, diabetes, fever, infections, and bronchopneumonia are among the various diseases for which BL is currently used. By using mechanical pressure under vacuum to influence local soft tissue microcirculation, BL improves capillary vascular permeability, increases regional blood circulation flow, stimulates the immune system for feedback control, and improves metabolism. The effectiveness of BLT in various therapies varies depending on the conditions and diseases. The results of laboratory assays indicated the effectiveness of BLT in diseases, and the meta-analysis’s showed that it is an assessment, controlling, and less side effect method than other medical methods. The various types of articles in therapy by the association of BL, titled, studied: for instance, may be helpful as a complementary therapy for acute stroke and eye drops, while BLT may boost lead absorption by lowering iron serum.
2026-02-14 | Hyperferritinemia and dysmetabolic iron overload in the formation of carbohydrate metabolism disorders in overweight and obese patients
BACKGROUND : Diseases, which pathogenesis is based on iron overload - hereditary hemochromatosis, β-thalassemia, porphyria cutanea tarda - are associated with type 2 diabetes mellitus; this suggests the role of excess iron in the formation of carbohydrate metabolism disorders (CMD). The question of the possibility and informative content of using traditional ferrokinetics parameters as predictors and markers for diagnosing various CMD remains debatable. AIM : To establish relationships between ferrokinetics markers and indicators of carbohydrate metabolism in overweight and obese individuals. The scientific hypothesis is that disturbances in ferrokinetics, such as dysmetabolic iron overload, influence the risk of induction and progression of CMD, regardless of body mass index. MATERIALS AND METHODS : Patients underwent anthropometry, blood sampling with the determination of a detailed biochemical analysis, lipid spectrum analysis, a detailed general blood test and biochemical indicators of iron metabolism. Taking into account the technical capabilities of the device, a number of patients included in the study underwent T2*-magnetic resonance relaxometry of the liver. RESULTS : The study included 108 patients, stratified into groups depending on the presence of CMD (without CMD, with impaired glucose tolerance (IGT) and with T2DM), as well as depending on the iron metabolism (with relatively high and relatively low ferritin levels). Ferritin levels were significantly higher in patients with T2DM than in patients with IGT (298.10 [145.80–336.95] and 124.00 [58.30–170.55] ng/ml, respectively, p=0.029) and persons without CMD (59.80 [24.10–108.85] ng/ml, p=0.002), and significantly higher in persons with IGT compared to patients without CMD (p=0.035). Patients with ferritin levels above the 75th percentile had higher glycated hemoglobin levels (HbA1c) (5.8 [5.3–6.6] and 5.4 [5.2–5.7]%, respectively, p=0.016). Ferritin was highly informative in the diagnosis of T2DM: sensitivity 77.8%, specificity 91% with a diagnostic threshold of 208.1 ng/ml (area under the curve = 0.813; p=0.002). In diagnosing IGT ferritin had a high sensitivity of 75% and specificity of 84.4%, but with a lower diagnostic threshold of 126.65 ng/ml (area under the curve = 0.738; p=0.016). CONCLUSION : The level of hyperferritinemia increases as dysglycemia progresses. Ferritin is a promising marker that is highly informative in the diagnosis of various carbohydrate metabolism disorders.
2026-01-22 | Porphyria Cutanea Tarda with Addisonian Pigmentation
Porphyrias are a rare group of metabolic disorders due to hereditary or acquired deficiency of enzymes of the heme biosynthetic pathway. They manifest with neurovisceral and/or cutaneous symptoms depending on the defective enzyme. Porphyria cutanea tarda (PCT) is a common subtype mainly affecting the skin with blisters and easy skin fragility on photo-exposed sites with an estimated prevalence of 1 in 10000 to –1 in 25000. It results from altered activity of the uroporphyrinogen III decarboxylase (UROD) enzyme, causing accumulation of photosensitive carboxylated porphyrins such as uroporphyrinogen in the skin and liver. We report a case of a 46-year-old male farmer presenting with photosensitivity, blistering, and easy skin fragility on photo-exposed and trauma-prone sites for 2 years. He was diagnosed and treated as PCT after clinical and laboratory evaluation.
cell therapies
2024-08-31 | Nail Bed Regeneration by Excision of Distal Scarred Matrix in a Patient with Porphyria Cutanea Tarda.
Onycholysis secondary to nail bed scarring can be a challenging problem for hand surgeons, given the relatively few techniques available for nail bed lengthening. Here, we present the case of a patient with upper extremity onycholysis, secondary to porphyria cutanea tarda. We used a technique first described by Lemperle et al in 2003 to successfully lengthen the nail bed and improve the appearance of the nail plate. This involved full-thickness excision of a crescent-shaped wedge of the distal nail bed in all five right sided digits in a single operation. We found this technique to be simple and effective, meeting our patient's goals after just one excision.
2014-08-27 | Allogeneic corneoscleral limbus tissue transplantation for treatment of the necrosis in porphyria eye disease.
Porphyria cutanea tarda (PCT) with ocular complications are rarely reported. To the best of our knowledge, no reports exist on allogeneic corneoscleral limbus tissue transplantation for treatment of these. Amniotic membrane grafting had been performed in their patient suffering from porphyria eye disease, but necrosis developed in the grafts. Nevertheless, in our patient, allogeneic corneoscleral limbus transplantation prevented necrosis from development at corneoscleral limbus. So we considered that the allogeneic corneoscleral limbus transplantation might be an option to repair the necrosis in porphyria eye disease with avoiding sunlight and using artificial tear drops.
1985-08-01 | IMMUNOREACTIVE UROPORPHYRINOGEN DECARBOXYLASE IN THE LIVER IN PORPHYRIA CUTANEA TARDA
Immunoreactive and catalytic uroporphyrinogen decarboxylase were measured in liver from 15 patients with sporadic porphyria cutanea tarda (PCT) and 4 patients with familial PCT at different stages of the disorder. In sporadic PCT, catalytic activity was lowest and immunoreactive enzyme concentration was highest when active skin lesions were present; this pattern was also seen in the one familial PCT patient who had skin lesions. During remission, the ratio of catalytic activity to immunoreactive enzyme concentration returned towards normal. Immunoreactive enzyme was increased by comparison with controls in sporadic patients with skin lesions; in familial PCT mean concentration was 59% of the overall sporadic value. In 4 sporadic patients in prolonged (4-8 years) remission (following venesection) enzyme activity and immunoreactive enzyme concentrations were normal. It is suggested that clinically overt PCT is precipitated by an iron-dependent process which inactivates the active centres of uroporphyrinogen decarboxylase molecules in the liver. Treatment by venesection eventually leads to complete reversal of this biochemical defect in at least some patients with sporadic PCT. The findings are consistent with the view that sporadic PCT is an acquired disorder.
antibodies
2023-07-01 | Control of porphyria cutanea tarda with anti-IL-17 secukinumab in a person with psoriasis living with HIV
Abstract A 65-year-old woman successfully treated for human immunodeficiency virus (HIV) and Hepatitis C virus was diagnosed with porphyria cutanea tarda (PCT) and treated by phlebotomies. She developed extensive psoriatic skin lesions resistant to topical treatments and methotrexate. She then received the anti-interleukin-17 (IL-17) secukinumab (Cosentyx) which improved her psoriatic skin lesions. Unexpectedly, her PCT skin lesions healed, allowing phlebotomy discontinuation over 2 years. Without lesions, the patient decided to discontinue secukinumab, leading to the recurrence of psoriatic and PCT skin lesions, which were controlled upon therapeutical rechallenge. No AIDS-related manifestations or infections developed, her CD4 count remained elevated and her HIV viral load was controlled under antiretroviral therapy. Both skin conditions and consequently the patient’s quality of life have improved with secukinumab, allowing exposure to sunlight and phlebotomy discontinuation for >4 years. Likely, the IL-17 pathway is involved in the clinical manifestations of PCT, opening new avenues for therapeutical interventions.
gene therapies
2024-07-12 | Understanding Hepatic Porphyrias: Symptoms, Treatments, and Unmet Needs.
Hepatic porphyrias are a group of metabolic disorders that are characterized by overproduction and accumulation of porphyrin precursors in the liver. These porphyrins cause neurologic symptoms as well as cutaneous photosensitivity, and in some cases patients can experience life-threatening acute neurovisceral attacks. This review describes the acute hepatic porphyrias in detail, including acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria, as well as the hepatic porphyrias with cutaneous manifestations such as porphyria cutanea tarda and hepatoerythropoietic porphyria. Each section will cover disease prevalence, clinical manifestations, and current therapies, including strategies to manage symptoms. Finally, we review new and emerging treatment modalities, including gene therapy through use of adeno-associated vectors and chaperone therapies such as lipid nanoparticle and small interfering RNA-based therapeutics.
small molecules
2026-08-20 | Inhibiting Wnt/β-catenin-mTOR signaling enhances autophagy and porphyrin clearance in murine porphyrias with hepatic involvement.
Porphyrias are rare metabolic disorders arising from defects in heme biosynthesis, leading to accumulation of toxic porphyrin intermediates, mitochondrial dysfunction, and liver injury. Current therapies are limited in efficacy, emphasizing the need for novel treatments. Prior studies showed hepatocyte-specific β-catenin deletion attenuates porphyrin accumulation and liver injury in 3,5-diethoxycarbonyl-1,4-dihydrocollidine (DDC)-induced porphyria. We hypothesized that inhibiting components of the Wnt-β-catenin-glutamine synthesis (GS) pathway reduces heme synthesis and also enhances porphyrin clearance by activating autophagy and improving mitochondrial quality control. We combined pharmacologic Wnt inhibition and hepatocyte-specific GS deletion in murine models of porphyria. Readouts included spatial transcriptomics, targeted metabolomics, immunohistochemistry, confocal mt-Keima imaging, high-resolution respirometry, and transmission electron microscopy. Human liver biopsies and explants from porphyria patients were also examined by dual-label immunohistochemistry. Wnt inhibition during DDC suppressed upregulation of heme biosynthesis genes, reduced porphyrin intermediate accumulation, and enhanced autophagic flux. GS deletion attenuated porphyrin biosynthesis by limiting intracellular glutamine. Wnt and GS deletion produced additive increases in autophagy, restored zonation, and further reduced porphyrin accumulation. Wnt inhibition restored mitophagy, whereas GS deletion primarily improved mitochondrial coupling efficiency. Wnt inhibition also decreased fibrosis in a genetic mouse model of porphyria. Patient samples mirrored murine findings, with heme enzymes and autophagy inversely correlated with β-catenin expression in porphyria cutanea tarda. By disrupting Wnt-GS signaling, we establish a link between increased autophagy, reduced porphyrin formation, and heme pathway regulation in mouse and human liver. These findings identify the Wnt signaling pathway as a potential therapeutic target in porphyria.Abbreviations: ALA: δ-Aminolevulinic acid; AIP: acute intermittent porphyria; ALAS: aminolevulinic acid synthase; ALAD: aminolevulinic acid dehydratase; ALP: alkaline phosphatase: AST: aspartate aminotransferase; ALT: alanine aminotransferase; DAB: 3,3'-diaminobenzidine; DDC: 3,5-diethoxycarbonyl-1,4-dihydrocollidine; EPP: erythropoietic protoporphyria; Fech: ferrochelatase; GAPDH: glyceraldehyde 3-phosphate dehydrogenase; GS: glutamine synthesis; H&E: hematoxylin and eosin: HO-1: heme oxygenase 1; IHC: immunohistochemistry; KO: knockout; LAMP1: lysosomal associated membrane protein 1; LC3: microtubule-associated protein 1 A/1B-light chain 3; mTOR: mechanistic target of rapamycin; PBG: porphobilinogen; PBS: phosphate-buffered saline; PP-IX: protoporphyrin-IX; PCT: porphyria cutanea tarda; RCR: respiratory control ratio; SQSTM1/p62: sequestosome 1; TEM: transmission electron microscopy; Wnt-I: Wnt-C59 (inhibitor).
2026-07-28 | Case Report: HCV-triggered porphyria cutanea tarda in a patient with SEC23B-mutated congenital dyserythropoietic anemia type II.
Porphyria cutanea tarda (PCT) is a hepatic porphyria often triggered by hepatitis C virus (HCV) infection, iron overload, or environmental exposure. Congenital dyserythropoietic anemia type II (CDA II) caused by SEC23B mutations leads to ineffective erythropoiesis and secondary iron accumulation. We report a 34-year-old man with genetically confirmed SEC23B-mutated CDA II who developed photosensitive bullae associated with chronic HCV genotype 1b infection, hyperbilirubinemia, and severe iron overload. Urinary porphyrins were positive, and skin biopsy showed subepidermal bullae with PAS-positive deposits, supporting the diagnosis of PCT. After unsuccessful therapy with hydroxychloroquine, treatment with sofosbuvir/velpatasvir achieved sustained virologic response, resolution of skin lesions, and marked ferritin reduction. This case illustrates that viral and metabolic stressors can trigger PCT in CDA II patients with possible hepatic involvement, underscoring the importance of recognizing combined genetic and infectious factors in rare hematologic disorders.
2026-03-24 | Solution of Diseases by Bloodletting and Controlling of Laboratory Diagnosis Results
A basic component of complementary and alternative medicine, bloodletting is also referred to as blood cupping (CP) or cupping therapy (CPT) and blood-letting puncture (CP), which refers to a superficial needle prick in the skin. In East Asia, BL or CPT is a non-medical treatment that is referred to as traditional therapy. Insulin-resistant iron overload syndrome, ischemic stroke, hemochromatosis, iron, external rheumatism, psoriasis, metabolic syndrome, and mental pain in patients with migraine porphyria cutanea-tarda, diabetes, fever, infections, and bronchopneumonia are among the various diseases for which BL is currently used. By using mechanical pressure under vacuum to influence local soft tissue microcirculation, BL improves capillary vascular permeability, increases regional blood circulation flow, stimulates the immune system for feedback control, and improves metabolism. The effectiveness of BLT in various therapies varies depending on the conditions and diseases. The results of laboratory assays indicated the effectiveness of BLT in diseases, and the meta-analysis’s showed that it is an assessment, controlling, and less side effect method than other medical methods. The various types of articles in therapy by the association of BL, titled, studied: for instance, may be helpful as a complementary therapy for acute stroke and eye drops, while BLT may boost lead absorption by lowering iron serum.
2026-02-14 | Hyperferritinemia and dysmetabolic iron overload in the formation of carbohydrate metabolism disorders in overweight and obese patients
BACKGROUND : Diseases, which pathogenesis is based on iron overload - hereditary hemochromatosis, β-thalassemia, porphyria cutanea tarda - are associated with type 2 diabetes mellitus; this suggests the role of excess iron in the formation of carbohydrate metabolism disorders (CMD). The question of the possibility and informative content of using traditional ferrokinetics parameters as predictors and markers for diagnosing various CMD remains debatable. AIM : To establish relationships between ferrokinetics markers and indicators of carbohydrate metabolism in overweight and obese individuals. The scientific hypothesis is that disturbances in ferrokinetics, such as dysmetabolic iron overload, influence the risk of induction and progression of CMD, regardless of body mass index. MATERIALS AND METHODS : Patients underwent anthropometry, blood sampling with the determination of a detailed biochemical analysis, lipid spectrum analysis, a detailed general blood test and biochemical indicators of iron metabolism. Taking into account the technical capabilities of the device, a number of patients included in the study underwent T2*-magnetic resonance relaxometry of the liver. RESULTS : The study included 108 patients, stratified into groups depending on the presence of CMD (without CMD, with impaired glucose tolerance (IGT) and with T2DM), as well as depending on the iron metabolism (with relatively high and relatively low ferritin levels). Ferritin levels were significantly higher in patients with T2DM than in patients with IGT (298.10 [145.80–336.95] and 124.00 [58.30–170.55] ng/ml, respectively, p=0.029) and persons without CMD (59.80 [24.10–108.85] ng/ml, p=0.002), and significantly higher in persons with IGT compared to patients without CMD (p=0.035). Patients with ferritin levels above the 75th percentile had higher glycated hemoglobin levels (HbA1c) (5.8 [5.3–6.6] and 5.4 [5.2–5.7]%, respectively, p=0.016). Ferritin was highly informative in the diagnosis of T2DM: sensitivity 77.8%, specificity 91% with a diagnostic threshold of 208.1 ng/ml (area under the curve = 0.813; p=0.002). In diagnosing IGT ferritin had a high sensitivity of 75% and specificity of 84.4%, but with a lower diagnostic threshold of 126.65 ng/ml (area under the curve = 0.738; p=0.016). CONCLUSION : The level of hyperferritinemia increases as dysglycemia progresses. Ferritin is a promising marker that is highly informative in the diagnosis of various carbohydrate metabolism disorders.
2026-01-22 | Porphyria Cutanea Tarda with Addisonian Pigmentation
Porphyrias are a rare group of metabolic disorders due to hereditary or acquired deficiency of enzymes of the heme biosynthetic pathway. They manifest with neurovisceral and/or cutaneous symptoms depending on the defective enzyme. Porphyria cutanea tarda (PCT) is a common subtype mainly affecting the skin with blisters and easy skin fragility on photo-exposed sites with an estimated prevalence of 1 in 10000 to –1 in 25000. It results from altered activity of the uroporphyrinogen III decarboxylase (UROD) enzyme, causing accumulation of photosensitive carboxylated porphyrins such as uroporphyrinogen in the skin and liver. We report a case of a 46-year-old male farmer presenting with photosensitivity, blistering, and easy skin fragility on photo-exposed and trauma-prone sites for 2 years. He was diagnosed and treated as PCT after clinical and laboratory evaluation.
cell therapies
2024-08-31 | Nail Bed Regeneration by Excision of Distal Scarred Matrix in a Patient with Porphyria Cutanea Tarda.
Onycholysis secondary to nail bed scarring can be a challenging problem for hand surgeons, given the relatively few techniques available for nail bed lengthening. Here, we present the case of a patient with upper extremity onycholysis, secondary to porphyria cutanea tarda. We used a technique first described by Lemperle et al in 2003 to successfully lengthen the nail bed and improve the appearance of the nail plate. This involved full-thickness excision of a crescent-shaped wedge of the distal nail bed in all five right sided digits in a single operation. We found this technique to be simple and effective, meeting our patient's goals after just one excision.
2014-08-27 | Allogeneic corneoscleral limbus tissue transplantation for treatment of the necrosis in porphyria eye disease.
Porphyria cutanea tarda (PCT) with ocular complications are rarely reported. To the best of our knowledge, no reports exist on allogeneic corneoscleral limbus tissue transplantation for treatment of these. Amniotic membrane grafting had been performed in their patient suffering from porphyria eye disease, but necrosis developed in the grafts. Nevertheless, in our patient, allogeneic corneoscleral limbus transplantation prevented necrosis from development at corneoscleral limbus. So we considered that the allogeneic corneoscleral limbus transplantation might be an option to repair the necrosis in porphyria eye disease with avoiding sunlight and using artificial tear drops.
1985-08-01 | IMMUNOREACTIVE UROPORPHYRINOGEN DECARBOXYLASE IN THE LIVER IN PORPHYRIA CUTANEA TARDA
Immunoreactive and catalytic uroporphyrinogen decarboxylase were measured in liver from 15 patients with sporadic porphyria cutanea tarda (PCT) and 4 patients with familial PCT at different stages of the disorder. In sporadic PCT, catalytic activity was lowest and immunoreactive enzyme concentration was highest when active skin lesions were present; this pattern was also seen in the one familial PCT patient who had skin lesions. During remission, the ratio of catalytic activity to immunoreactive enzyme concentration returned towards normal. Immunoreactive enzyme was increased by comparison with controls in sporadic patients with skin lesions; in familial PCT mean concentration was 59% of the overall sporadic value. In 4 sporadic patients in prolonged (4-8 years) remission (following venesection) enzyme activity and immunoreactive enzyme concentrations were normal. It is suggested that clinically overt PCT is precipitated by an iron-dependent process which inactivates the active centres of uroporphyrinogen decarboxylase molecules in the liver. Treatment by venesection eventually leads to complete reversal of this biochemical defect in at least some patients with sporadic PCT. The findings are consistent with the view that sporadic PCT is an acquired disorder.
antibodies
2023-07-01 | Control of porphyria cutanea tarda with anti-IL-17 secukinumab in a person with psoriasis living with HIV
Abstract A 65-year-old woman successfully treated for human immunodeficiency virus (HIV) and Hepatitis C virus was diagnosed with porphyria cutanea tarda (PCT) and treated by phlebotomies. She developed extensive psoriatic skin lesions resistant to topical treatments and methotrexate. She then received the anti-interleukin-17 (IL-17) secukinumab (Cosentyx) which improved her psoriatic skin lesions. Unexpectedly, her PCT skin lesions healed, allowing phlebotomy discontinuation over 2 years. Without lesions, the patient decided to discontinue secukinumab, leading to the recurrence of psoriatic and PCT skin lesions, which were controlled upon therapeutical rechallenge. No AIDS-related manifestations or infections developed, her CD4 count remained elevated and her HIV viral load was controlled under antiretroviral therapy. Both skin conditions and consequently the patient’s quality of life have improved with secukinumab, allowing exposure to sunlight and phlebotomy discontinuation for >4 years. Likely, the IL-17 pathway is involved in the clinical manifestations of PCT, opening new avenues for therapeutical interventions.
gene therapies
2024-07-12 | Understanding Hepatic Porphyrias: Symptoms, Treatments, and Unmet Needs.
Hepatic porphyrias are a group of metabolic disorders that are characterized by overproduction and accumulation of porphyrin precursors in the liver. These porphyrins cause neurologic symptoms as well as cutaneous photosensitivity, and in some cases patients can experience life-threatening acute neurovisceral attacks. This review describes the acute hepatic porphyrias in detail, including acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria, as well as the hepatic porphyrias with cutaneous manifestations such as porphyria cutanea tarda and hepatoerythropoietic porphyria. Each section will cover disease prevalence, clinical manifestations, and current therapies, including strategies to manage symptoms. Finally, we review new and emerging treatment modalities, including gene therapy through use of adeno-associated vectors and chaperone therapies such as lipid nanoparticle and small interfering RNA-based therapeutics.
Access all drug discovery papers and probability of success in trials forecasts:
Access all drug discovery papers and probability of success in trials forecasts:
Drug Discovery Landscape
0 orphan drug designations.
0 orphan drug designations.
Let's accelerate rare disease drug discovery
Let's accelerate drug discovery
Get access to Explority AI’s forecasts to outperform average preclinical success rates. Whether you’re expanding your R&D pipeline, evaluating a partnership, or simply have a question — we’d love to hear from you.