hereditary optic atrophy
hereditary optic atrophy
Explore linked clinical trials. Standard reference: MONDO:004387821 results · Page 1 of 1
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| SAD of IVT PYC-001 in OPA1 Mutation-Associated Autosomal Dominant Optic Atrophy (Sundew) | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Nutritional and Metabolic Diseases, Optic Atrophy, Autosomal Dominant, cranial nerve neuropathy, eye disorder, hereditary disease, hereditary optic atrophy, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, optic atrophy, optic nerve disorder | Active, not recruiting | Phase 1 | 2026-09-17 | NCT06461286 | |
| New Non-invasive Modalities for Assessing Retinal Structure and Function | Arterial Occlusive Diseases, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Hemianopsia, Leber hereditary optic neuropathy, Neurologic Manifestations, Nutritional and Metabolic Diseases, Optic Neuropathy, Ischemic, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, acute zonal occult outer retinopathy, blindness (disorder), branch retinal artery occlusion, cardiovascular disorder, cranial nerve neuropathy, eye disorder, hereditary disease, hereditary optic atrophy, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, optic atrophy, optic nerve disorder, retinal artery occlusion, retinal disorder, vascular disorder, vision disorder | Recruiting | Not applicable | 2026-09-08 | NCT03475173 | |
| A Longitudinal Natural History Study of OPA1-Associated Autosomal-Dominant Optic Atrophy | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Nutritional and Metabolic Diseases, Optic Atrophy, Autosomal Dominant, cranial nerve neuropathy, eye disorder, hereditary disease, hereditary optic atrophy, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, optic atrophy, optic nerve disorder | Recruiting | Not stated | 2026-07-28 | NCT07729982 | |
| Safety of Single and Repeat Dose of PYC-001 Eye Injections in People With Autosomal Dominant Optic Atrophy (Myrtle) | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Nutritional and Metabolic Diseases, Optic Atrophy, Autosomal Dominant, cranial nerve neuropathy, eye disorder, hereditary disease, hereditary optic atrophy, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, optic atrophy, optic nerve disorder | Recruiting | Phase 1 / Phase 2 | 2026-06-29 | NCT06970106 | |
| Stem Cell Ophthalmology Treatment Study II | Abnormalities, Multiple, CNS demyelinating autoimmune disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cranial Nerve Injuries, Craniocerebral Trauma, Deaf-Blind Disorders, Deafness, Doyne honeycomb retinal dystrophy, Ear Diseases, Eye Diseases, Hereditary, Geographic Atrophy, Hearing Loss, Sensorineural, Leber hereditary optic neuropathy, Neurologic Manifestations, Nutritional and Metabolic Diseases, Optic Atrophy, Autosomal Dominant, Optic Neuropathy, Ischemic, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, Stargardt disease, Usher syndrome, Vision, Low, acute transverse myelitis, age-related macular degeneration, autoimmune disease, autoimmune disorder of the nervous system, blindness (disorder), cardiovascular disorder, cone dystrophy, cone-rod dystrophy, cranial nerve neuropathy, demyelinating disease, eye disorder, glaucoma, hearing disorder, hearing loss disorder, hereditary disease, hereditary optic atrophy, immune system disorder, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, inherited retinal dystrophy, injury, macular degeneration, metabolic disease, nervous system disorder, nervous system injury, neurodegenerative disease, neuromyelitis optica, nutritional deficiency disease, nutritional disorder, ocular hypertension, optic atrophy, optic nerve disorder, optic neuritis, otorhinolaryngologic disease, retinal degeneration, retinal disorder, retinitis pigmentosa, traumatic optic neuropathy, vascular disorder, vision disorder, vitamin A deficiency, vitamin deficiency disorder, wet macular degeneration | Recruiting | Not applicable | 2026-06-29 | NCT03011541 | |
| Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION) | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Abnormalities, Eye Diseases, Hereditary, Leber congenital amaurosis, Leber congenital amaurosis 10, Leber hereditary optic neuropathy, Meckel syndrome, type 4, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, blindness (disorder), cranial nerve neuropathy, eye disorder, hereditary disease, hereditary optic atrophy, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, optic atrophy, optic nerve disorder, retinal disorder, vision disorder | Recruiting | Phase 3 | 2026-06-25 | NCT06891443 | |
| AMX0035 in Adult Patients With Wolfram Syndrome | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Ear Diseases, Eye Diseases, Hereditary, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Neurologic Manifestations, Nutritional and Metabolic Diseases, Sensation Disorders, Urogenital Diseases, Wolfram syndrome, blindness (disorder), cranial nerve neuropathy, diabetes insipidus, diabetes mellitus, endocrine system disorder, eye disorder, glucose metabolism disease, hearing disorder, hearing loss disorder, hereditary disease, hereditary optic atrophy, inherited neurodegenerative disorder, kidney disorder, metabolic disease, nervous system disorder, neurodegenerative disease, optic atrophy, optic nerve disorder, otorhinolaryngologic disease, pituitary gland disorder, type 1 diabetes mellitus, urinary system disorder, vision disorder | Active, not recruiting | Phase 2 | 2026-04-14 | NCT05676034 | |
| Efficacy and Safety Study of Bilateral IVT Injection of GS010 at Two Dose Levels in LHON Patients | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Leber hereditary optic neuropathy, Nutritional and Metabolic Diseases, cranial nerve neuropathy, eye disorder, hereditary disease, hereditary optic atrophy, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, optic atrophy, optic nerve disorder | Recruiting | Phase 2 | 2026-03-02 | NCT07303296 | |
| A Phase 3, Multicenter, Randomized, Double-Masked, Sham-Controlled Clinical Trial for Leber's Hereditary Optic Neuropathy (LHON) Associated With ND4 Mutation | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Leber hereditary optic neuropathy, Nutritional and Metabolic Diseases, cranial nerve neuropathy, eye disorder, hereditary disease, hereditary optic atrophy, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, optic atrophy, optic nerve disorder | Active, not recruiting | Phase 3 | 2026-02-12 | NCT07406854 | |
| North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) | Abnormalities, Multiple, Acid-Base Imbalance, Barth syndrome, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cardiovascular Abnormalities, Cerebral Small Vessel Diseases, Chronic Disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deafness, Disease Attributes, Ear Diseases, Epilepsies, Myoclonic, Epilepsy, Generalized, Epileptic Syndromes, Eye Diseases, Hereditary, Kearns-Sayre syndrome, Leber hereditary optic neuropathy, Leigh syndrome, Leukoencephalopathies, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, MELAS syndrome, MERRF syndrome, NARP syndrome, Neurologic Manifestations, Nutritional and Metabolic Diseases, Ocular Motility Disorders, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Pyruvate Metabolism, Inborn Errors, Sensation Disorders, Signs and Symptoms, Visceral myopathy familial external ophthalmoplegia, X-linked disease, acidosis disorder, brain disorder, cardiomyopathy, cardiovascular disorder, central nervous system disorder, cerebrovascular disorder, congenital heart disease, cranial nerve neuropathy, diabetes mellitus, disease, endocrine system disorder, epilepsy, eye disorder, glucose metabolism disease, hearing disorder, hearing loss disorder, heart disorder, hereditary disease, hereditary optic atrophy, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, inherited neurodegenerative disorder, inherited retinal dystrophy, lactic acidosis, maternally-inherited Leigh syndrome, metabolic disease, mitochondrial complex I deficiency, mitochondrial complex IV deficiency, nuclear-type, mitochondrial encephalomyopathy, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, ophthalmoplegia, optic atrophy, optic nerve disorder, otorhinolaryngologic disease, palsy, progressive external ophthalmoplegia, progressive myoclonus epilepsy, retinal degeneration, retinal disorder, retinitis pigmentosa, stroke disorder, syndromic disease, vascular disorder | Recruiting | Not stated | 2026-02-04 | NCT01694940 | |
| Does Recessive Optic Atrophy Due to WFS1 Exist? | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Ear Diseases, Eye Diseases, Hereditary, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Neurologic Manifestations, Nutritional and Metabolic Diseases, Sensation Disorders, Urogenital Diseases, Wolfram syndrome, Wolfram syndrome 1, blindness (disorder), cranial nerve neuropathy, diabetes insipidus, diabetes mellitus, endocrine system disorder, eye disorder, glucose metabolism disease, hearing disorder, hearing loss disorder, hereditary disease, hereditary optic atrophy, inherited neurodegenerative disorder, kidney disorder, metabolic disease, nervous system disorder, neurodegenerative disease, optic atrophy, optic nerve disorder, otorhinolaryngologic disease, pituitary gland disorder, type 1 diabetes mellitus, urinary system disorder, vision disorder | Not yet recruiting | Not stated | 2026-01-13 | NCT07336966 | |
| Mechanisms of Fecal Incontinence in Wolfram Syndrome | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Digestive System Diseases, Ear Diseases, Eye Diseases, Hereditary, Fecal Incontinence, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Neurologic Manifestations, Nutritional and Metabolic Diseases, Sensation Disorders, Urogenital Diseases, Wolfram syndrome, blindness (disorder), cranial nerve neuropathy, diabetes insipidus, diabetes mellitus, digestive system disorder, endocrine system disorder, eye disorder, glucose metabolism disease, hearing disorder, hearing loss disorder, hereditary disease, hereditary optic atrophy, inherited neurodegenerative disorder, intestinal disorder, kidney disorder, metabolic disease, nervous system disorder, neurodegenerative disease, optic atrophy, optic nerve disorder, otorhinolaryngologic disease, pituitary gland disorder, rectal disorder, type 1 diabetes mellitus, urinary system disorder, vision disorder | Not yet recruiting | Not stated | 2025-12-31 | NCT07313085 | |
| Wolfram Syndrome and WFS1-related Disorders International Registry and Clinical Study | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Dyskinesias, Ear Diseases, Eye Diseases, Hereditary, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, Urogenital Diseases, Wolfram syndrome, atactic disorder, non-human animal, blindness (disorder), cranial nerve neuropathy, diabetes insipidus, diabetes mellitus, endocrine system disorder, eye disorder, glucose metabolism disease, hearing disorder, hearing loss disorder, hereditary disease, hereditary optic atrophy, inherited neurodegenerative disorder, kidney disorder, metabolic disease, nervous system disorder, neurodegenerative disease, optic atrophy, optic nerve disorder, otorhinolaryngologic disease, pituitary gland disorder, type 1 diabetes mellitus, urinary system disorder, vision disorder | Recruiting | Not stated | 2025-12-23 | NCT02841553 | |
| Pilot Study of the Efficacy of Nicotinamide (Vitamin B3) in Leber's Hereditary Optic Neuropathy | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Leber hereditary optic neuropathy, Nutritional and Metabolic Diseases, cranial nerve neuropathy, eye disorder, hereditary disease, hereditary optic atrophy, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, optic atrophy, optic nerve disorder | Not yet recruiting | Phase 1 | 2025-12-18 | NCT07258667 | |
| Metabolomics Analysis According to the Retinal Nerve Fiber Layer in Patients With NOHL Mutations (MétabOCT) | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Leber hereditary optic neuropathy, Nutritional and Metabolic Diseases, cranial nerve neuropathy, eye disorder, hereditary disease, hereditary optic atrophy, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, optic atrophy, optic nerve disorder | Recruiting | Not applicable | 2025-11-18 | NCT06682819 | |
| Optic Nerve Head Evaluation Through Multimodal Blood Flow Analysis: a Prospective Observational, Multi-center Study | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Leber hereditary optic neuropathy, Nutritional and Metabolic Diseases, Optic Neuropathy, Ischemic, anterior ischemic optic neuropathy, cardiovascular disorder, cranial nerve neuropathy, eye disorder, glaucoma, hereditary disease, hereditary optic atrophy, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, low tension glaucoma, metabolic disease, nervous system disorder, neurodegenerative disease, ocular hypertension, optic atrophy, optic disk drusen, optic nerve disorder, vascular disorder | Not yet recruiting | Not stated | 2025-07-20 | NCT07075887 | |
| Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford | 3-methylglutaconic aciduria type 5, 46 XY differences of sex development, 4p16.3 microduplication syndrome, Abnormalities, Multiple, Alagille syndrome, Alstrom syndrome, Amino Acid Transport Disorders, Inborn, Amnesia, Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation, Aortic Stenosis, Supravalvular, Arterial Occlusive Diseases, Ataxia-Telangiectasia Variant, Axenfeld-Rieger syndrome, Bacterial Infections and Mycoses, Beckwith-Wiedemann syndrome, Blau syndrome, Bohring-Opitz syndrome, Bone Diseases, Developmental, Bone Diseases, Metabolic, Borrelia infectious disease, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cardiovascular Abnormalities, Cayman type cerebellar ataxia, Charlevoix-Saguenay spastic ataxia, Chronic Disease, Ciliopathies, Cockayne syndrome, Coffin-Lowry syndrome, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cytopenia, DNA repair disease, De Lange Syndrome, Deafness, Deglutition Disorders, Denys-Drash syndrome, Digestive System Abnormalities, Digestive System Diseases, Digestive System Fistula, Disease Attributes, Disorders of Excessive Somnolence, Dwarfism, Dyskinesias, Dyssomnias, Ear Diseases, Emanuel syndrome, Eosinophilic enteropathy, Eye Abnormalities, Eye Diseases, Hereditary, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Fibrosis, Fistula, Frasier syndrome, Friedreich ataxia, Frontotemporal Lobar Degeneration, Growth Deficiency and Mental Retardation with Facial Dysmorphism, Halitosis, Hemic and Lymphatic Diseases, Hereditary Central Nervous System Demyelinating Diseases, Hirschsprung disease, Hyperglycinemia, Nonketotic, Hypophosphatasia, Adult, Hypophosphatasia, Perinatal Lethal, Imprinting Disorders, Infections, KBG syndrome, Kabuki syndrome, Kawasaki disease, Kennedy disease, Kleine-Levin syndrome, Klippel-Feil syndrome, Kyphosis, Lambert-Eaton myasthenic syndrome, Leber congenital amaurosis, Leigh syndrome, Leukoencephalopathies, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lyme disease, Lymphohistiocytosis, Hemophagocytic, Lysosomal Storage Diseases, Nervous System, Machado-Joseph disease, Machado-Joseph disease type 1, Machado-Joseph disease type 2, Machado-Joseph disease type 3, Malan overgrowth syndrome, Male Urogenital Diseases, Mannosidase Deficiency Diseases, Memory Disorders, Moyamoya disease, Muscle Hypertonia, Muscle Spasticity, Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus, Muscular Disorders, Atrophic, Musculoskeletal Abnormalities, Myhre syndrome, Myoclonus, Myoclonus, Nocturnal, NARP syndrome, Neglected Diseases, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Connective and Soft Tissue, Neoplasms, Multiple Primary, Neurobehavioral Manifestations, Neuroinflammatory Diseases, Neurologic Manifestations, Neuromuscular Manifestations, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, Olivary Degeneration, Optic Atrophy, Autosomal Dominant, PHARC syndrome, Paraneoplastic Syndromes, Nervous System, Pathologic Processes, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms, Peroxisomal Disorders, Peters anomaly, Pitt-Hopkins syndrome, Postoperative Complications, Potocki-Shaffer syndrome, Primary Immunodeficiency Diseases, Pyruvate Dehydrogenase Complex Deficiency Disease, Pyruvate Metabolism, Inborn Errors, Rare Diseases, Sacral agenesis, Sacral defect and anterior sacral meningocele, Scheuermann disease, Sensation Disorders, Signs and Symptoms, Signs and Symptoms, Digestive, Skin and Connective Tissue Diseases, Skraban-Deardorff syndrome, Sleep Disorders, Intrinsic, Spinal Curvatures, Spinal Osteochondrosis, Spinocerebellar Ataxia, Autosomal Recessive 8, Spinocerebellar Ataxias, Spinocerebellar Degenerations, Spinocerebellar ataxia 8, Stickler syndrome type 1, Stickler syndrome type 2, Sulfatidosis, TDP-43 proteinopathy, Urogenital Abnormalities, Urogenital Diseases, Urogenital Neoplasms, WAGR syndrome, Warburg Sjo Fledelius syndrome, Wiedemann-Steiner syndrome, Williams syndrome, Wilms tumor, Wolf-Hirschhorn syndrome, X-linked cerebellar ataxia, X-linked disease, X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked non progressive cerebellar ataxia, X-linked progressive cerebellar ataxia, X-linked spinocerebellar ataxia type 3, X-linked spinocerebellar ataxia type 4, achalasia, acquired ataxia, acrodysostosis, adrenal gland disorder, adrenocortical insufficiency, adult Refsum disease, adult hypophosphatasia, anal fistula, anemia, aniridia, aniridia-absent patella syndrome, aortic valve disorder, aortic valve stenosis, arginase deficiency, atactic disorder, non-human animal, ataxia neuropathy spectrum, ataxia telangiectasia, ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, ataxia-telangiectasia-like disorder, atypical hemolytic-uremic syndrome, autoimmune disease, autoimmune disorder of the nervous system, autonomic nervous system disorder, autosomal dominant cerebellar ataxia, autosomal dominant cerebellar ataxia type I, autosomal dominant cerebellar ataxia type III, autosomal dominant cerebellar ataxia type IV, autosomal dominant cerebellar ataxia, deafness and narcolepsy, autosomal dominant spastic ataxia, autosomal recessive ataxia due to PEX10 deficiency, autosomal recessive ataxia due to ubiquinone deficiency, autosomal recessive ataxia, Beauce type, autosomal recessive cerebellar ataxia, autosomal recessive cerebellar ataxia with late-onset spasticity, autosomal recessive congenital cerebellar ataxia, autosomal recessive degenerative and progressive cerebellar ataxia, autosomal recessive metabolic cerebellar ataxia, autosomal recessive spastic ataxia, autosomal recessive spinocerebellar ataxia 12, autosomal recessive spinocerebellar ataxia 7, autosomal recessive syndromic cerebellar ataxia, bacterial infectious disease, basal ganglia disorder, benign paroxysmal tonic upgaze of childhood with ataxia, benign urinary system neoplasm, beta-mannosidosis, bile duct disorder, biliary atresia, biliary tract disorder, blood platelet disease, bone disorder, brachydactyly-nystagmus-cerebellar ataxia syndrome, brain disorder, breast implant-associated anaplastic large cell lymphoma, cardiovascular disorder, carotid artery disorder, cataract-ataxia-deafness syndrome, cauda equina syndrome, caudal regression sequence, central nervous system disorder, central nervous system infectious disorder, central nervous system malformation, cerebellar ataxia, cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, cerebellar ataxia-ectodermal dysplasia syndrome, cerebellar ataxia-hypogonadism syndrome, cerebellar disorder, cerebral arterial disease, cerebrovascular disorder, childhood hypophosphatasia, cholestasis, chromosomal disorder, chromosome 1p36 deletion syndrome, chronic recurrent multifocal osteomyelitis, chronic renal failure syndrome, cirrhosis of liver, cognitive disorder, colonic disorder, congenital heart disease, congenital sucrase-isomaltase deficiency, connective tissue disorder, cranial nerve neuropathy, cystinosis, dementia, demyelinating disease, diffuse scleroderma, digestive system disorder, dimethylglycine dehydrogenase deficiency, disease, disorder of glycogen metabolism, disorder of sexual differentiation, dyskinesia of esophagus, dysostosis, early-onset cerebellar ataxia with retained tendon reflexes, endocrine system disorder, eosinophilic gastroenteritis, episodic ataxia type 1, episodic ataxia type 2, episodic ataxia type 3, episodic ataxia type 4, episodic ataxia type 5, episodic ataxia type 6, episodic ataxia type 7, esophageal disorder, eye disorder, familial caudal dysgenesis, familial isolated deficiency of vitamin E, fragile X-associated tremor/ataxia syndrome, frontotemporal dementia, gonadal disorder, gram-negative bacterial infections, hearing disorder, hearing loss disorder, heart disorder, heart valve disorder, hematologic disorder, hemolytic anemia, hemolytic-uremic syndrome, hereditary ataxia, hereditary disease, hereditary episodic ataxia, hereditary motor and sensory neuropathy, hereditary neoplastic syndrome, hereditary optic atrophy, hereditary sensory and autonomic neuropathy, hereditary sensory neuropathy-deafness-dementia syndrome, histiocytosis, hyperacusis, hypertrophic olivary degeneration, hypophosphatasia, idiopathic achalasia, idiopathic gastroparesis, idiopathic hypersomnia, idiopathic hypersomnia with long sleep time, idiopathic hypersomnia without long sleep time, ileus, immune system disorder, inborn carbohydrate metabolic disorder, inborn disorder of amino acid metabolism, inborn error of immunity, inborn errors of metabolism, inborn metal metabolism disorder, inborn mitochondrial metabolism disorder, inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, infantile hypophosphatasia, inherited neurodegenerative disorder, inherited retinal dystrophy, intellectual disability, intellectual disability-sparse hair-brachydactyly syndrome, intestinal disorder, intestinal fistula, intestinal obstruction, intestinal pseudo-obstruction, intracranial arterial disease, intrahepatic cholestasis, iris disorder, isolated aniridia, juvenile myasthenia gravis, juvenile nephropathic cystinosis, kidney cancer, kidney disorder, kidney failure, laryngeal papillomatosis, leiomyosarcoma, leiomyosarcoma of the cervix uteri, leiomyosarcoma of the corpus uteri, leukodystrophy, leukoencephalopathy with calcifications and cysts, liver disorder, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, malabsorption syndrome, malignant endocrine neoplasm, maternally-inherited Leigh syndrome, megacolon, meningitis, metabolic disease, metachromatic leukodystrophy, metaphyseal chondrodysplasia, Jansen type, mismatch repair cancer syndrome 1, mixed neoplasm, motor neuron disorder, movement disorder, mucolipidosis, mucolipidosis type IV, multiple endocrine neoplasia, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2A, multiple endocrine neoplasia type 2B, multiple endocrine neoplasia type 4, multiple system atrophy, multiple system atrophy, cerebellar type, multiple system atrophy, parkinsonian type, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, myasthenia gravis, myoclonus-cerebellar ataxia-deafness syndrome, myomatous neoplasm, myopathy, myofibrillar, 9, with early respiratory failure, narcolepsy, narcolepsy without cataplexy, neonatal myasthenia gravis, neoplasm, nephropathic cystinosis, nephropathic infantile cystinosis, nerve compression syndrome, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neuromuscular disease, neuromuscular junction disease, non-Langerhans cell histiocytosis, oculocerebrorenal syndrome, oculopharyngeal muscular dystrophy, odontohypophosphatasia, optic atrophy, optic nerve disorder, osteochondrosis, otorhinolaryngologic disease, paraneoplastic syndrome, perinatal lethal hypophosphatasia, peripheral nervous system disorder, peroxisome biogenesis disorder 4B, polyneuropathy, polyradiculoneuropathy, prenatal benign hypophosphatasia, primary biliary cholangitis, primary dysautonomia, proteostasis deficiencies, psychiatric disorder, recessive mitochondrial ataxia syndrome, rectal disorder, recurrent respiratory papillomatosis, renal tubular transport disease, retinal degeneration, retinal disorder, retinitis pigmentosa, sarcoma, scleroderma, short bowel syndrome, silver-Russell syndrome due to 11p15 microduplication, silver-Russell syndrome due to maternal uniparental disomy of chromosome 11, skin disorder, skin vascular disease, sleep-wake disorder, small intestine leiomyosarcoma, spastic ataxia, spastic ataxia 3, spastic ataxia 7, spasticity-ataxia-gait anomalies syndrome, sphingolipidosis, spinal cord disorder, spinal muscular atrophy, spinocerebellar ataxia 7, spinocerebellar ataxia type 1, spinocerebellar ataxia type 10, spinocerebellar ataxia type 11, spinocerebellar ataxia type 12, spinocerebellar ataxia type 13, spinocerebellar ataxia type 14, spinocerebellar ataxia type 15/16, spinocerebellar ataxia type 17, spinocerebellar ataxia type 18, spinocerebellar ataxia type 19/22, spinocerebellar ataxia type 2, spinocerebellar ataxia type 20, spinocerebellar ataxia type 21, spinocerebellar ataxia type 23, spinocerebellar ataxia type 25, spinocerebellar ataxia type 26, spinocerebellar ataxia type 27, spinocerebellar ataxia type 28, spinocerebellar ataxia type 29, spinocerebellar ataxia type 30, spinocerebellar ataxia type 31, spinocerebellar ataxia type 32, spinocerebellar ataxia type 34, spinocerebellar ataxia type 35, spinocerebellar ataxia type 36, spinocerebellar ataxia type 37, spinocerebellar ataxia type 4, spinocerebellar ataxia type 5, spinocerebellar ataxia type 6, spinocerebellar ataxia type 8, spinocerebellar ataxia with epilepsy, spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, spirochaetales infections, sporadic adult-onset ataxia of unknown etiology, syndromic disease, synucleinopathy, systemic sclerosis, telangiectasis, thrombocytopenia, thrombotic microangiopathy, tick-borne infectious disease, transient global amnesia, triple-A syndrome, urea cycle disorder, uremia, urinary system disorder, uveal disorder, vascular disorder, vasculitis, vector-borne disease, vertebral column disorder, viral infection of central nervous system, viral infectious disease, viral meningitis | Recruiting | Not stated | 2025-05-29 | NCT01793168 | |
| Monogenic Diabetes Misdiagnosed as Type 1 | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Ear Diseases, Eye Diseases, Hereditary, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Neurologic Manifestations, Nutritional and Metabolic Diseases, Sensation Disorders, Urogenital Diseases, Wolcott-Rallison syndrome, Wolfram syndrome, autoimmune disease, blindness (disorder), cranial nerve neuropathy, diabetes insipidus, diabetes mellitus, endocrine system disorder, eye disorder, glucose metabolism disease, hearing disorder, hearing loss disorder, hereditary disease, hereditary optic atrophy, immune system disorder, inherited neurodegenerative disorder, kidney disorder, maternally-inherited diabetes and deafness, metabolic disease, monogenic diabetes, nervous system disorder, neurodegenerative disease, optic atrophy, optic nerve disorder, otorhinolaryngologic disease, pituitary gland disorder, type 1 diabetes mellitus, urinary system disorder, vision disorder | Recruiting | Not stated | 2024-12-10 | NCT03988764 | |
| Gene Therapy Clinical Trial for the Treatment of Leber's Hereditary Optic Neuropathy Associated With ND4 Mutations | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Leber hereditary optic neuropathy, Nutritional and Metabolic Diseases, cranial nerve neuropathy, eye disorder, hereditary disease, hereditary optic atrophy, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, optic atrophy, optic nerve disorder | Active, not recruiting | Phase 1 / Phase 2 | 2024-09-04 | NCT05293626 | |
| Gene Therapy Clinical Trial for the Treatment Of Leber's HereDitary Optic Neuropathy | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Leber hereditary optic neuropathy, Nutritional and Metabolic Diseases, cranial nerve neuropathy, eye disorder, hereditary disease, hereditary optic atrophy, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, optic atrophy, optic nerve disorder | Recruiting | Phase 2 / Phase 3 | 2022-11-14 | NCT04912843 | |
| A Study to Evaluate Efficacy, Safety, Tolerability and Exposure After a Repeat-dose of Sepofarsen (QR-110) in LCA10 (ILLUMINATE) | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Abnormalities, Eye Diseases, Hereditary, Leber congenital amaurosis, Leber congenital amaurosis 10, Leber hereditary optic neuropathy, Meckel syndrome, type 4, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, blindness (disorder), cranial nerve neuropathy, eye disorder, hereditary disease, hereditary optic atrophy, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, optic atrophy, optic nerve disorder, retinal disorder, vision disorder | Active, not recruiting | Phase 2 / Phase 3 | 2022-03-17 | NCT03913143 |