Rare Disease Drug Discovery

Rare neurological diseases

Motor neuron disease

Congenital diaphragmatic hernia

Charcot-Marie-Tooth disease type 1

CLN3 disease

Myotonic dystrophy

Spinocerebellar ataxia type 3

Congenital muscular dystrophy

Myotonic syndrome

Rett syndrome

Narcolepsy

Neuromyelitis optica spectrum disorder

Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy

Angelman syndrome

Multiple system atrophy

Frontotemporal dementia

Becker muscular dystrophy

MELAS

Hereditary spastic paraplegia

Behavioral variant of frontotemporal dementia

Oculopharyngeal muscular dystrophy

Pelizaeus-Merzbacher disease

Spinocerebellar ataxia type 1

Friedreich ataxia

Facioscapulohumeral dystrophy

Mitochondrial myopathy

Steinert myotonic dystrophy

NMDA receptor encephalitis

Duchenne and Becker muscular dystrophy

Charcot-Marie-Tooth disease type 1A

CLN2 disease

Aicardi-Goutières syndrome

Laminin subunit alpha 2-related congenital muscular dystrophy

Autosomal dominant cerebellar ataxia

Corticobasal syndrome

Dysferlin-related limb-girdle muscular dystrophy R2

Spinocerebellar ataxia type 7

Spinocerebellar ataxia type 2

Collagen VI-related congenital muscular dystrophy

Lennox-Gastaut syndrome

Neuronal ceroid lipofuscinosis

Trigeminal neuralgia

CDKL5-deficiency disorder

Progressive supranuclear palsy

Moderate and severe traumatic brain injury

Inclusion body myositis

Atypical autism

Limb-girdle muscular dystrophy

Ataxia-telangiectasia

CLN7 disease

Kennedy disease

CLN6 disease

Distal spinal muscular atrophy type 3

Moyamoya disease

Atypical Rett syndrome

Early-onset Lafora body disease

Acute disseminated encephalomyelitis

Dravet syndrome

Huntington disease

Guillain-Barré syndrome

Infantile spasms syndrome

Pantothenate kinase-associated neurodegeneration

Epilepsy syndrome

Neurodegeneration with brain iron accumulation

Malignant hyperthermia of anesthesia

Complex regional pain syndrome

Idiopathic inflammatory myopathy

Allan-Herndon-Dudley syndrome

Idiopathic intracranial hypertension

Lafora disease

Acute transverse myelitis

Rare dystonia

STXBP1-related encephalopathy

X-linked centronuclear myopathy

Rasmussen subacute encephalitis

Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG

Alexander disease

Classic stiff person syndrome

Canavan disease

Juvenile myoclonic epilepsy

Dentatorubral pallidoluysian atrophy

Primary angiitis of the central nervous system

X-linked Charcot-Marie-Tooth disease type 6

Centronuclear myopathy

Bilirubin encephalopathy

PANDAS

Charcot-Marie-Tooth disease type 4

Posterior cortical atrophy

SYNGAP1-related developmental and epileptic encephalopathy

Spastic paraplegia type 7

Spinocerebellar ataxia type 6

X-linked Charcot-Marie-Tooth disease type 1

Idiopathic hypersomnia

Rare metabolic diseases

Mitochondrial disease

Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

Gaucher disease type 1

Cystinosis

Mucopolysaccharidosis type 3

Sanfilippo syndrome type C

Hurler syndrome

Barth syndrome

Acute hepatic porphyria

Mucopolysaccharidosis type 4

Glycogen storage disease due to acid maltase deficiency

Fabry disease

Niemann-Pick disease type C

Gaucher disease

Disorder of bile acid synthesis

Mucopolysaccharidosis type 4A

Classic galactosemia

Autosomal erythropoietic protoporphyria

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia

Fucosidosis

Sanfilippo syndrome type A

Acute intermittent porphyria

Mucopolysaccharidosis type 10

Phenylketonuria

Mucopolysaccharidosis type 2

Tay-Sachs disease

GM2 gangliosidosis

Propionic acidemia

Ornithine transcarbamylase deficiency

Sandhoff disease

GM1 gangliosidosis

Tyrosinemia type 1

Danon disease

Erythropoietic porphyria

Galactosemia

Alkaptonuria

Porphyria

Vitamin B12-unresponsive methylmalonic acidemia

Sanfilippo syndrome type B

Farber disease

Mucopolysaccharidosis type 7

Galactosialidosis

Citrullinemia type I

Vitamin B12-responsive methylmalonic acidemia

Sialidosis

Congenital erythropoietic porphyria

Leigh syndrome

Krabbe disease

Citrullinemia

Mucopolysaccharidosis type 1

X-linked adrenoleukodystrophy

Lysosomal acid lipase deficiency

Mucopolysaccharidosis type 6

Mucolipidosis

Glycogen storage disease due to glycogen debranching enzyme deficiency

Homocystinuria due to cystathionine beta-synthase deficiency

Argininemia

Maple syrup urine disease

Mitochondrial trifunctional protein deficiency

Very long chain acyl-CoA dehydrogenase deficiency

Sanfilippo syndrome type D

PMM2-CDG

Alpha-mannosidosis

Glycogen storage disease due to glucose-6-phosphatase deficiency

Mitochondrial neurogastrointestinal encephalomyopathy

Wolman disease

Beta-mannosidosis

Argininosuccinic aciduria

Mitochondrial DNA-associated Leigh syndrome

GM3 synthase deficiency

Vitamin B12-unresponsive methylmalonic acidemia type mut0

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Disorder of asparagine metabolism

Infantile neurovisceral acid sphingomyelinase deficiency

Rare oncological diseases

B-cell non-Hodgkin lymphoma

Rhabdoid tumor

Anaplastic thyroid carcinoma

Myeloproliferative neoplasm

Burkitt lymphoma

Malignant tumor of penis

Rare tumor of pancreas

Medulloblastoma

Adrenocortical carcinoma

Chondrosarcoma

Uveal melanoma

Malignant peripheral nerve sheath tumor

Von Hippel-Lindau disease

Primary cutaneous lymphoma

Systemic mastocytosis

Adenocarcinoma of the esophagus

Rare thyroid carcinoma

Malignant tumor of fallopian tubes

Chordoma

Adult T-cell leukemia/lymphoma

Gastroenteropancreatic neuroendocrine neoplasm

Cutaneous neuroendocrine carcinoma

Extranodal nasal NK/T cell lymphoma

Hepatoblastoma

Pseudomyxoma peritonei

Squamous cell carcinoma of the oral cavity

Diffuse intrinsic pontine glioma

Primary peritoneal carcinoma

Myelodysplastic neoplasm with increased blasts

Precursor T-cell acute lymphoblastic leukemia

Soft tissue sarcoma

Mantle cell lymphoma

Precursor B-cell acute lymphoblastic leukemia

Indolent B-cell non-Hodgkin lymphoma

Angioimmunoblastic T-cell lymphoma

Classic Hodgkin lymphoma

Medullary thyroid carcinoma

Waldenström macroglobulinemia

Anaplastic large cell lymphoma

Giant cell tumor of bone

Squamous cell carcinoma of the oropharynx

Classic mycosis fungoides

Squamous cell carcinoma of the anal canal

Central nervous system embryonal tumor

Carcinoma of the ampulla of Vater

Classic hairy cell leukemia

Ileal neuroendocrine tumor

Marginal zone lymphoma

Follicular lymphoma

Chronic myelomonocytic leukemia

Adenocarcinoma of ovary

Inflammatory myofibroblastic tumor

Benign schwannoma

Adult hepatocellular carcinoma

Skeletal Ewing sarcoma

Juvenile myelomonocytic leukemia

T-cell prolymphocytic leukemia

B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality

Carcinoma of the anal canal

Large granular lymphocyte leukemia

Benign tumor of fallopian tubes

Extramammary Paget disease

Hemangioblastoma

Yolk sac tumor

Germ cell tumor of testis

Plasmablastic lymphoma

Vulvar squamous cell carcinoma

Therapy related acute myeloid leukemia and myelodysplastic syndrome

Bronchial neuroendocrine tumor

Jejunal neuroendocrine tumor

Myelodysplastic neoplasm with increased blasts type 2

Mastocytosis

Rare hematologic diseases

Rare cardiac diseases

Catecholaminergic polymorphic ventricular tachycardia

Inherited arrhythmogenic cardiomyopathy

Rare familial disorder with hypertrophic cardiomyopathy

Familial long QT syndrome

Peripartum cardiomyopathy

Rare immune diseases

Primary immunodeficiency

Dyskeratosis congenita

Common variable immunodeficiency

Chronic granulomatous disease

Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

Wiskott-Aldrich syndrome

X-linked hyper-IgM syndrome

Primary hemophagocytic lymphohistiocytosis

Hyperimmunoglobulinemia D with periodic fever

T-B+ severe combined immunodeficiency due to gamma chain deficiency

Acute graft versus host disease

Hyper-IgE syndrome

Severe combined immunodeficiency due to adenosine deaminase deficiency

Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

Autoimmune lymphoproliferative syndrome

Severe combined immunodeficiency due to complete RAG1/2 deficiency

X-linked lymphoproliferative disease due to SAP deficiency

Chronic graft versus host disease

Rare systemic or rheumatologic diseases

Hereditary angioedema with C1Inh deficiency

Wild type ATTR amyloidosis

Anti-neutrophil cytoplasmic antibody-associated vasculitis

Anti-glomerular basement membrane disease

Hereditary angioedema type 1

Juvenile idiopathic arthritis

Kawasaki disease

Juvenile dermatomyositis

Hereditary ATTR amyloidosis

Familial Mediterranean fever

Dermatomyositis

Adult-onset Still disease

Marfan syndrome

CAR T cell therapy-associated cytokine release syndrome

Macrophage activation syndrome

Multisystem inflammatory syndrome in children and adults

Diffuse cutaneous systemic sclerosis

IgG4-related disease

AL amyloidosis

Limited systemic sclerosis

Eosinophilic granulomatosis with polyangiitis

Calciphylaxis

Polymyositis

Microscopic polyangiitis

Pyoderma gangrenosum

Pediatric systemic lupus erythematosus

Langerhans cell histiocytosis

Ehlers-Danlos syndrome

Granulomatosis with polyangiitis

Rheumatic fever

Limited cutaneous systemic sclerosis

Antiphospholipid syndrome

F12-related hereditary angioedema with normal C1Inh

Autoinflammatory syndrome with acne and/or hidradenitis suppurativa

Rare infectious diseases

Marburg hemorrhagic fever

Herpes simplex virus encephalitis

Amoebic keratitis

Botulism

Ebola hemorrhagic fever

Lassa fever

Crimean-Congo hemorrhagic fever

Progressive multifocal leukoencephalopathy

Necrotizing soft tissue infection

Yellow fever

Invasive candidiasis

Human infection by orthopoxvirus

Inhalational anthrax

Chikungunya

Staphylococcal necrotizing pneumonia

Meningococcal meningitis

Lyme disease

Typhoid

Zygomycosis

Rare genetic diseases

Rare developmental defect during embryogenesis

Rare endocrine diseases

Obesity due to congenital leptin deficiency

Familial chylomicronemia syndrome

Congenital adrenal hyperplasia

Cushing disease

Cushing syndrome due to ectopic ACTH secretion

Congenital generalized lipodystrophy

Obesity due to leptin receptor gene deficiency

Familial lipoprotein lipase deficiency

Obesity due to melanocortin 4 receptor deficiency

Primary adrenal insufficiency

Apolipoprotein A-I deficiency

Arginine vasopressin deficiency

LCAT deficiency

Tangier disease

Addison disease

ACTH-dependent Cushing syndrome

Homozygous familial hypercholesterolemia

Congenital isolated hyperinsulinism

Acromegaly

Endogenous Cushing syndrome

Rare diabetes mellitus type 1

Growth hormone insensitivity syndrome

Insulinoma

Isolated congenital hypogonadotropic hypogonadism

Obesity due to pro-opiomelanocortin deficiency

Familial LCAT deficiency

Zollinger-Ellison syndrome

Insulin autoimmune syndrome

Rare skin diseases

Ichthyosis

Pseudoxanthoma elasticum

Xeroderma pigmentosum

Dystrophic epidermolysis bullosa

Severe generalized junctional epidermolysis bullosa

Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form

Netherton syndrome

Localized scleroderma

Alopecia totalis

Inherited epidermolysis bullosa

Generalized pustular psoriasis

Epidermolysis bullosa acquisita

Recessive X-linked ichthyosis

Autosomal recessive congenital ichthyosis

Bullous pemphigoid

Linear IgA dermatosis

Sjögren-Larsson syndrome

Late-onset junctional epidermolysis bullosa

Rare bone diseases

Fibrodysplasia ossificans progressiva

Osteogenesis imperfecta

Hypophosphatasia

Achondroplasia

X-linked hypophosphatemia

Osteopetrosis and related disorders

Osteonecrosis of the jaw

Hypophosphatemic rickets

Osteochondritis dissecans

Hypochondroplasia

Legg-Calvé-Perthes disease

Rare ophthalmic disorders

Rare gastroenterologic diseases

Necrotizing enterocolitis

Rare pancreatic disease

Familial adenomatous polyposis

Pouchitis

Microvillus inclusion disease

Peutz-Jeghers syndrome

Idiopathic gastroparesis

Rare renal diseases

Thrombotic microangiopathy

Alport syndrome

Idiopathic nephrotic syndrome

Hemolytic uremic syndrome

Primary membranous glomerulonephritis

C3 glomerulopathy

Primary hyperoxaluria

Primary hyperoxaluria type 1

Idiopathic steroid-sensitive nephrotic syndrome

Primary membranoproliferative glomerulonephritis

Distal renal tubular acidosis

Arginine vasopressin resistance

Congenital nephrotic syndrome, Finnish type

Dent disease type 1

Cystinuria type A

Rare hepatic diseases

Progressive familial intrahepatic cholestasis

Primary sclerosing cholangitis

Wilson disease

Crigler-Najjar syndrome

Intrahepatic cholestasis of pregnancy

Rare respiratory disease

Bronchopulmonary dysplasia

Lymphangioleiomyomatosis

Primary ciliary dyskinesia

Recurrent respiratory papillomatosis

Chronic thromboembolic pulmonary hypertension

Idiopathic pulmonary arterial hypertension

Autoimmune pulmonary alveolar proteinosis

Pleural empyema

Pneumonia caused by Pseudomonas aeruginosa infection

Diffuse alveolar hemorrhage

Idiopathic pulmonary fibrosis

High altitude pulmonary edema

Meconium aspiration syndrome

Chronic beryllium disease

Hereditary pulmonary alveolar proteinosis

Chronic respiratory distress with surfactant metabolism deficiency

Hypersensitivity pneumonitis

Alpha-1-antitrypsin deficiency

Rare circulatory system diseases

Adenosine deaminase 2 deficiency

Generalized arterial calcification of infancy

Rare urogenital diseases

Rare odontologic diseases

Amelogenesis imperfecta

Rare otorhinolaryngologic disease

Sudden sensorineural hearing loss

Non-syndromic genetic deafness

Rare gynecologic or obstetric diseases

Placental insufficiency

Rare infertility

Rare female infertility

Rare abdominal surgical diseases

Rare maxillo-facial surgical disease

Rare disorder due to toxic effects

Rare surgical thoracic diseases

Rare surgical cardiac diseases

Rare transplant-related disorders

Complications after hematopoietic stem cell transplantation

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