- Conditions
- Hereditary Corneal Dystrophy, Corneal Abnormality, Corneal Dystrophies, Corneal Dystrophies, Hereditary
- Interventions
- GEB-101 Injection
- Genetic
- Lead sponsor
- GenEditBio Limited
- Industry
- Eligibility
- 18 Years to 70 Years
- Enrollment
- 30 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2026 – 2028
- U.S. locations
- 1
- States / cities
- Los Angeles, California
Search Results
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Showing 25–48
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- Conditions
- Hereditary Spastic Paraplegia
- Interventions
- transcutaneous spinal cord stimulation
- Device
- Lead sponsor
- Rahul Sachdeva
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 15 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2026 – 2028
- U.S. locations
- 1
- States / cities
- Lexington, Kentucky
- Conditions
- Metastatic Squamous Neck Cancer With Occult Primary Squamous Cell Carcinoma
- Interventions
- SF1126
- Drug
- Lead sponsor
- Ezra Cohen
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 1 participant
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2016
- U.S. locations
- 1
- States / cities
- La Jolla, California
- Conditions
- Cardiac Amyloidosis
- Interventions
- F-18 florbetapir PET
- Drug
- Lead sponsor
- Brigham and Women's Hospital
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 23 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2013 – 2018
- U.S. locations
- 1
- States / cities
- Boston, Massachusetts
- Conditions
- Transthyretin (TTR) Amyloid Cardiomyopathy
- Interventions
- Tafamidis, Placebo
- Drug
- Lead sponsor
- Pfizer
- Industry
- Eligibility
- 18 Years to 90 Years
- Enrollment
- 441 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2013 – 2018
- U.S. locations
- 50
- States / cities
- Birmingham, Alabama • Phoenix, Arizona • Scottsdale, Arizona + 24 more
- Conditions
- Amyotrophic Lateral Sclerosis, Lou Gehrig's Disease, Primary Lateral Sclerosis, Nervous System Diseases, Hereditary Spastic Paraparesis
- Interventions
- No intervention
- Other
- Lead sponsor
- Massachusetts General Hospital
- Other
- Eligibility
- 30 Years to 80 Years
- Enrollment
- 475 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2008 – 2015
- U.S. locations
- 29
- States / cities
- Phoenix, Arizona • Orange, California • Jacksonville, Florida + 24 more
- Conditions
- Eye Diseases Hereditary, Retinal Disease, Achromatopsia, Bardet-Biedl Syndrome, Bassen-Kornzweig Syndrome, Batten Disease, Best Disease, Choroidal Dystrophy, Choroideremia, Cone Dystrophy, Cone-Rod Dystrophy, Congenital Stationary Night Blindness, Enhanced S-Cone Syndrome, Fundus Albipunctatus, Goldmann-Favre Syndrome, Gyrate Atrophy, Juvenile Macular Degeneration, Kearns-Sayre Syndrome, Leber Congenital Amaurosis, Refsum Syndrome, Retinitis Pigmentosa, Retinitis Punctata Albescens, Retinoschisis, Rod-Cone Dystrophy, Rod Dystrophy, Rod Monochromacy, Stargardt Disease, Usher Syndrome
- Interventions
- Not listed
- Lead sponsor
- Foundation Fighting Blindness
- Other
- Eligibility
- Not listed
- Enrollment
- 20,000 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2014 – 2037
- U.S. locations
- 1
- States / cities
- Columbia, Maryland
- Conditions
- Cerebral Palsy (CP), Stroke, Spinal Cord Injury, Traumatic Brain Injury, Charcot Marie Tooth Disease (CMT), Spina Bifida
- Interventions
- Participate in high intensity exercise of at least 20 minutes in 60 minutes session of RPE greater than 6.
- Behavioral
- Lead sponsor
- University of Hartford
- Other
- Eligibility
- 8 Years to 99 Years
- Enrollment
- 15 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2025
- U.S. locations
- 1
- States / cities
- West Hartford, Connecticut
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome, Prenatal Benign Hypophosphatasia, Perinatal Lethal Hypophosphatasia, Odontohypophosphatasia, Adult Hypophosphatasia, Childhood-onset Hypophosphatasia, Infantile Hypophosphatasia, Hypophosphatasia, Kabuki Syndrome, Bohring-Opitz Syndrome, Narcolepsy Without Cataplexy, Narcolepsy-cataplexy, Hypersomnolence Disorder, Idiopathic Hypersomnia Without Long Sleep Time, Idiopathic Hypersomnia With Long Sleep Time, Idiopathic Hypersomnia, Kleine-Levin Syndrome, Kawasaki Disease, Leiomyosarcoma, Leiomyosarcoma of the Corpus Uteri, Leiomyosarcoma of the Cervix Uteri, Leiomyosarcoma of Small Intestine, Acquired Myasthenia Gravis, Addison Disease, Hyperacusis (Hyperacousis), Juvenile Myasthenia Gravis, Transient Neonatal Myasthenia Gravis, Williams Syndrome, Lyme Disease, Myasthenia Gravis, Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome), Isolated Klippel-Feil Syndrome, Frasier Syndrome, Denys-Drash Syndrome, Beckwith-Wiedemann Syndrome, Emanuel Syndrome, Isolated Aniridia, Axenfeld-Rieger Syndrome, Aniridia-intellectual Disability Syndrome, Aniridia - Renal Agenesis - Psychomotor Retardation, Aniridia - Ptosis - Intellectual Disability - Familial Obesity, Aniridia - Cerebellar Ataxia - Intellectual Disability, Aniridia - Absent Patella, Aniridia, Peters Anomaly - Cataract, Peters Anomaly, Potocki-Shaffer Syndrome, Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11, Silver-Russell Syndrome Due to Imprinting Defect of 11p15, Silver-Russell Syndrome Due to 11p15 Microduplication, Syndromic Aniridia, WAGR Syndrome, Wolf-Hirschhorn Syndrome, 4p16.3 Microduplication Syndrome, 4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome, Autosomal Recessive Stickler Syndrome, Stickler Syndrome Type 2, Stickler Syndrome Type 1, Stickler Syndrome, Mucolipidosis Type 4, X-linked Spinocerebellar Ataxia Type 4, X-linked Spinocerebellar Ataxia Type 3, X-linked Intellectual Disability - Ataxia - Apraxia, X-linked Progressive Cerebellar Ataxia, X-linked Non Progressive Cerebellar Ataxia, X-linked Cerebellar Ataxia, Vitamin B12 Deficiency Ataxia, Toxic Exposure Ataxia, Unclassified Autosomal Dominant Spinocerebellar Ataxia, Thyroid Antibody Ataxia, Sporadic Adult-onset Ataxia of Unknown Etiology, Spinocerebellar Ataxia With Oculomotor Anomaly, Spinocerebellar Ataxia With Epilepsy, Spinocerebellar Ataxia With Axonal Neuropathy Type 2, Spinocerebellar Ataxia Type 8, Spinocerebellar Ataxia Type 7, Spinocerebellar Ataxia Type 6, Spinocerebellar Ataxia Type 5, Spinocerebellar Ataxia Type 4, Spinocerebellar Ataxia Type 37, Spinocerebellar Ataxia Type 36, Spinocerebellar Ataxia Type 35, Spinocerebellar Ataxia Type 34, Spinocerebellar Ataxia Type 32, Spinocerebellar Ataxia Type 31, Spinocerebellar Ataxia Type 30, Spinocerebellar Ataxia Type 3, Spinocerebellar Ataxia Type 29, Spinocerebellar Ataxia Type 28, Spinocerebellar Ataxia Type 27, Spinocerebellar Ataxia Type 26, Spinocerebellar Ataxia Type 25, Spinocerebellar Ataxia Type 23, Spinocerebellar Ataxia Type 22, Spinocerebellar Ataxia Type 21, Spinocerebellar Ataxia Type 20, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 19/22, Spinocerebellar Ataxia Type 18, Spinocerebellar Ataxia Type 17, Spinocerebellar Ataxia Type 16, Spinocerebellar Ataxia Type 15/16, Spinocerebellar Ataxia Type 14, Spinocerebellar Ataxia Type 13, Spinocerebellar Ataxia Type 12, Spinocerebellar Ataxia Type 11, Spinocerebellar Ataxia Type 10, Spinocerebellar Ataxia Type 1 With Axonal Neuropathy, Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia - Unknown, Spinocerebellar Ataxia - Dysmorphism, Non Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature, Spasticity-ataxia-gait Anomalies Syndrome, Spastic Ataxia With Congenital Miosis, Spastic Ataxia - Corneal Dystrophy, Spastic Ataxia, Rare Hereditary Ataxia, Rare Ataxia, Recessive Mitochondrial Ataxia Syndrome, Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature, Posterior Column Ataxia - Retinitis Pigmentosa, Post-Stroke Ataxia, Post-Head Injury Ataxia, Post Vaccination Ataxia, Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract, Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus, Non-hereditary Degenerative Ataxia, Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity, Olivopontocerebellar Atrophy - Deafness, NARP Syndrome, Myoclonus - Cerebellar Ataxia - Deafness, Multiple System Atrophy, Parkinsonian Type, Multiple System Atrophy, Cerebellar Type, Multiple System Atrophy, Maternally-inherited Leigh Syndrome, Machado-Joseph Disease Type 3, Machado-Joseph Disease Type 2, Machado-Joseph Disease Type 1, Leigh Syndrome, Late-onset Ataxia With Dementia, Infection or Post Infection Ataxia, GAD Ataxia, Hereditary Episodic Ataxia, Gliadin/Gluten Ataxia, Friedreich Ataxia, Fragile X-associated Tremor/Ataxia Syndrome, Familial Paroxysmal Ataxia, Exposure to Medications Ataxia, Episodic Ataxia With Slurred Speech, Episodic Ataxia Unknown Type, Episodic Ataxia Type 7, Episodic Ataxia Type 6, Episodic Ataxia Type 5, Episodic Ataxia Type 4, Episodic Ataxia Type 3, Episodic Ataxia Type 1, Epilepsy and/or Ataxia With Myoclonus as Major Feature, Early-onset Spastic Ataxia-neuropathy Syndrome, Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity, Early-onset Cerebellar Ataxia With Retained Tendon Reflexes, Early-onset Ataxia With Dementia, Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia, Dilated Cardiomyopathy With Ataxia, Cataract - Ataxia - Deafness, Cerebellar Ataxia, Cayman Type, Cerebellar Ataxia With Peripheral Neuropathy, Cerebellar Ataxia - Hypogonadism, Cerebellar Ataxia - Ectodermal Dysplasia, Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss, Brain Tumor Ataxia, Brachydactyly - Nystagmus - Cerebellar Ataxia, Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia, Autosomal Recessive Syndromic Cerebellar Ataxia, Autosomal Recessive Spastic Ataxia With Leukoencephalopathy, Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria, Autosomal Recessive Spastic Ataxia, Autosomal Recessive Metabolic Cerebellar Ataxia, Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine, Autosomal Recessive Ataxia, Beauce Type, Autosomal Recessive Ataxia Due to Ubiquinone Deficiency, Autosomal Recessive Ataxia Due to PEX10 Deficiency, Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia, Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency, Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency, Autosomal Recessive Congenital Cerebellar Ataxia, Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome, Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency, Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency, Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency, Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome, Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity, Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency, Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect, Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion, Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation, Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness, Autosomal Recessive Cerebellar Ataxia, Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly, Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation, Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy, Autosomal Dominant Spastic Ataxia Type 1, Autosomal Dominant Spastic Ataxia, Autosomal Dominant Optic Atrophy, Ataxia-telangiectasia Variant, Ataxia-telangiectasia, Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy, Autosomal Dominant Cerebellar Ataxia Type 4, Autosomal Dominant Cerebellar Ataxia Type 3, Autosomal Dominant Cerebellar Ataxia Type 2, Autosomal Dominant Cerebellar Ataxia Type 1, Autosomal Dominant Cerebellar Ataxia, Ataxia-telangiectasia-like Disorder, Ataxia With Vitamin E Deficiency, Ataxia With Dementia, Ataxia - Oculomotor Apraxia Type 1, Ataxia - Other, Ataxia - Genetic Diagnosis - Unknown, Acquired Ataxia, Adult-onset Autosomal Recessive Cerebellar Ataxia, Alcohol Related Ataxia, Multiple Endocrine Neoplasia, Multiple Endocrine Neoplasia Type II, Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia Type 2, Multiple Endocrine Neoplasia, Type IV, Multiple Endocrine Neoplasia, Type 3, Multiple Endocrine Neoplasia (MEN) Syndrome, Multiple Endocrine Neoplasia Type 2B, Multiple Endocrine Neoplasia Type 2A, Atypical Hemolytic Uremic Syndrome, Atypical HUS, Wiedemann-Steiner Syndrome, Breast Implant-Associated Anaplastic Large Cell Lymphoma, Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA), Hemophagocytic Lymphohistiocytosis, Behcet's Disease, Alagille Syndrome, Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD), Lowe Syndrome, Pitt Hopkins Syndrome, 1p36 Deletion Syndrome, Jansen Type Metaphyseal Chondrodysplasia, Cockayne Syndrome, Chronic Recurrent Multifocal Osteomyelitis, CRMO, Malan Syndrome, Hereditary Sensory and Autonomic Neuropathy Type Ie, VCP Disease, Hypnic Jerking, Sleep Myoclonus, Mollaret Meningitis, Recurrent Viral Meningitis, CRB1, Leber Congenital Amaurosis, Retinitis Pigmentosa, Rare Retinal Disorder, KCNMA1-Channelopathy, Primary Biliary Cirrhosis, ZMYND11, Transient Global Amnesia, Glycogen Storage Disease, Alstrom Syndrome, White Sutton Syndrome, DNM1, EIEE31, Myhre Syndrome, Recurrent Respiratory Papillomatosis, Laryngeal Papillomatosis, Tracheal Papillomatosis, Refsum Disease, Nicolaides Baraitser Syndrome, Leukodystrophy, Tango2, Cauda Equina Syndrome, Rare Gastrointestinal Disorders, Achalasia-Addisonian Syndrome, Achalasia Cardia, Achalasia Icrocephaly Syndrome, Anal Fistula, Congenital Sucrase-Isomaltase Deficiency, Eosinophilic Gastroenteritis, Idiopathic Gastroparesis, Hirschsprung Disease, Rare Inflammatory Bowel Disease, Intestinal Pseudo-Obstruction, Scleroderma, Short Bowel Syndrome, Sacral Agenesis, Sacral Agenesis Syndrome, Caudal Regression, Scheuermann Disease, SMC1A Truncated Mutations (Causing Loss of Gene Function), Cystinosis, Juvenile Nephropathic Cystinosis, Nephropathic Cystinosis, Kennedy Disease, Spinal Bulbar Muscular Atrophy, Warburg Micro Syndrome, Mucolipidoses, Mitochondrial Diseases, Mitochondrial Aminoacyl-tRNA Synthetases, Mt-aaRS Disorders, Hypertrophic Olivary Degeneration, Non-Ketotic Hyperglycinemia, Fish Odor Syndrome, Halitosis, Isolated Congenital Asplenia, Lambert Eaton (LEMS), Biliary Atresia, STAG1 Gene Mutation, Coffin Lowry Syndrome, Borjeson-Forssman-Lehman Syndrome, Blau Syndrome, Arginase 1 Deficiency, HSPB8 Myopathy, Beta-Mannosidosis, TBX4 Syndrome, DHDDS Gene Mutations, MAND-MBD5-Associated Neurodevelopmental Disorder, Constitutional Mismatch Repair Deficiency (CMMRD), SPATA5 Disorder, SPATA5L1 Related Disorder, Acrodysostosis, Multi-systematic Smooth Muscle Dysfunction Syndrome, CRELD1 (Cysteine Rich With EGF Like Domains 1), GNB1 Syndrome, Pyruvate Dehydrogenase Complex Deficiency Disease, Beta Mannosidosis, Kbg Syndrome, Labrune Syndrome, Metachromatic Leukodystrophy (MLD), Moyamoya Disease, OPHN1 Syndrome, Oculopharyngeal Muscular Dystrophy (OPMD), TUBB3 Mutation, WOREE (WWOX-related Epileptic Encephalopathy, SCAR12, Skraban-Deardorff Syndrome, Hereditary Myopathy With Early Respiratory Failure
- Interventions
- Not listed
- Lead sponsor
- Sanford Health
- Other
- Eligibility
- Not listed
- Enrollment
- 20,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2010 – 2100
- U.S. locations
- 1
- States / cities
- Sioux Falls, South Dakota
- Conditions
- Melanoma
- Interventions
- Vemurafenib
- Drug
- Lead sponsor
- Philip Friedlander
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 3 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2013 – 2015
- U.S. locations
- 1
- States / cities
- New York, New York
- Conditions
- Small Fiber Neuropathy, Fabry Disease, Ehlers Danlos Syndrome, Mitochondrial Disease
- Interventions
- Sudoscan, Skin biopsy, QSART
- Device · Procedure
- Lead sponsor
- Massachusetts General Hospital
- Other
- Eligibility
- 8 Years to 70 Years
- Enrollment
- 102 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2016 – 2020
- U.S. locations
- 1
- States / cities
- Boston, Massachusetts
- Conditions
- Peripheral Neuropathy, Chronic Inflammatory Demyelinating Polyradiculoneuropathy, Vasculitic Neuropathy (Disorder), Amyloidosis, Hereditary Neuropathy, Sarcoid Neuropathy
- Interventions
- Biopsy + Nerve Repair, Biopsy Only
- Device · Procedure
- Lead sponsor
- Mayo Clinic
- Other
- Eligibility
- 18 Years to 75 Years
- Enrollment
- 20 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2018 – 2027
- U.S. locations
- 1
- States / cities
- Rochester, Minnesota
- Conditions
- Giant Axonal Neuropathy (GAN)
- Interventions
- scAAV9/JeT-GAN
- Genetic
- Lead sponsor
- University of Texas Southwestern Medical Center
- Other
- Eligibility
- 10 Years to 25 Years
- Enrollment
- 4 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2026 – 2032
- U.S. locations
- 1
- States / cities
- Dallas, Texas
- Conditions
- Familial Amyloid Polyneuropathy
- Interventions
- Fx-1006A, Placebo
- Drug
- Lead sponsor
- Pfizer
- Industry
- Eligibility
- 18 Years to 75 Years
- Enrollment
- 128 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2007 – 2009
- U.S. locations
- 1
- States / cities
- Boston, Massachusetts
- Conditions
- Leber's Hereditary Optic Neuropathy
- Interventions
- elamipretide (MTP-131) 1% topical ophthalmic solution, Vehicle topical ophthalmic solution
- Drug
- Lead sponsor
- Stealth BioTherapeutics Inc.
- Industry
- Eligibility
- 18 Years to 50 Years
- Enrollment
- 12 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2016 – 2019
- U.S. locations
- 1
- States / cities
- Pasadena, California
- Conditions
- Neuromuscular Disease, Motor Neuron Disease, Inherited Neuromuscular Conditions, Inherited Neuropathies
- Interventions
- EIM testing, Nerve & muscle ultrasonography, Nerve conduction studies, Electromyography (EMG)
- Device
- Lead sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
- NIH
- Eligibility
- 2 Years to 110 Years
- Enrollment
- 275 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2013 – 2027
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- 16P11.2 Deletion Syndrome, 16p11.2 Duplications, 1Q21.1 Deletion, 1Q21.1 Microduplication Syndrome (Disorder), ACTL6B, ADNP, AHDC1, ANK2, ANKRD11, ARID1B, ASH1L, BCL11A, CHAMP1, CHD2, CHD8, CSNK2A1, CTBP1, CTNNB1 Gene Mutation, CUL3, DDX3X, DNMT3A, DSCAM, DYRK1A, FOXP1, GRIN2A, GRIN2B, HIVEP2-Related Intellectual Disability, HNRNPH2, KATNAL2, KDM5B, KDM6B, KMT2C Gene Mutation, KMT2E, KMT5B, MBD5, MED13L, PACS1, PPP2R5D-Related Intellectual Disability, PTCHD1, REST, SCN2A Encephalopathy, SETBP1 Gene Mutation, SETD5, SMARCA4 Gene Mutation, SMARCC2, STXBP1 Encephalopathy With Epilepsy, SYNGAP1-Related Intellectual Disability, TBR1, ARHGEF9, HNRNPU, PPP3CA, PPP2R1A, SLC6A1, 2p16.3 Deletions, 5q35 Deletions, 5q35 Duplications, 7q11.23 Duplications, 15Q13.3 Deletion Syndrome, 16p11.2 Triplications, 16P12.2 Microdeletion, 16P13.11 Microdeletion Syndrome (Disorder), 17Q12 Microdeletion Syndrome (Disorder), 17Q12 Duplication Syndrome, 17Q21.31 Deletion Syndrome, 17q21.3 Duplications, ACTB, ADSL, AFF2, ALDH5A1, ANK3, ARX, ATRX Gene Mutation, AUTS2 Syndrome, BCKDK, BRSK2, CACNA1C, CAPRIN1, CASK, CASZ1, CHD3, CIC, CNOT3, CREBBP Gene Mutation, CSDE1, CTCF, DEAF1, DHCR7, DLG4, EBF3, EHMT1, EP300 Gene Mutation, GIGYF1, GRIN1, GRIN2D, IQSEC2-Related Syndromic Intellectual Disability, IRF2BPL, KANSL1, KCNB1, KDM3B, NEXMIF, KMT2A, MBOAT7, MEIS2, MYT1L, NAA15, NBEA, NCKAP1, NIPBL, NLGN2, NLGN3, NLGN4X, NR4A2, NRXN1, NRXN2, NSD1 Gene Mutation, PHF21A, PHF3, PHIP, PSMD12, RELN, RERE, RFX3, RIMS1, RORB, SCN1A, SETD2 Gene Mutation, SHANK2, SIN3A, SLC9A6, SON, SOX5, SPAST, SRCAP, TAOK1, TANC2, TCF20, TLK2, TRIO, TRIP12, UPF3B, USP9X, VPS13B, WAC, WDFY3, ZBTB20, ZNF292, ZNF462, 2Q37 Deletion Syndrome, 9q34 Duplications, 15q15 Deletions, 15Q24 Deletion, NR3C2, SYNCRIP, 2q37.3 Deletion, 6q16 Deletion, 15q11.2 BP1-BP2 Deletion, 16p13.3 Deletion, 17Q11.2 Microduplication Syndrome (Disorder), 17p13.3, Xq28 Duplication, CLCN4, CSNK2B, DYNC1H1, EIF3F, GNB1, MED13, MEF2C, RALGAPB, SCN1B, YY1, Xp11.22 Duplication, PACS2, MAOA, MAOB, HNRNPC, HNRNPD, HNRNPK, HNRNPR, HNRNPUL2, 5P Deletion Syndrome, TCF7L2 Gene Mutation, HECW2, PPM1D, RNU4-2, SNAP25, FOXP2, ITSN1
- Interventions
- Not listed
- Lead sponsor
- Simons Searchlight
- Other
- Eligibility
- Not listed
- Enrollment
- 100,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2010 – 2050
- U.S. locations
- 2
- States / cities
- Boston, Massachusetts • Lewisburg, Pennsylvania
- Conditions
- Cystic Fibrosis (CF), Cystic Fibrosis-related Diabetes, Diabetes, Retinopathy, Neuropathy, Nephropathy, Blood Pressure, Cardiovascular Risk, Microvascular
- Interventions
- observational study
- Other
- Lead sponsor
- Jaeb Center for Health Research
- Other
- Eligibility
- 12 Years and older
- Enrollment
- 200 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2025 – 2028
- U.S. locations
- 18
- States / cities
- Birmingham, Alabama • Los Angeles, California • Palo Alto, California + 15 more
- Conditions
- Hereditary Transthyretin-mediated (hATTR) Amyloidosis, Polyneuropathy
- Interventions
- Not listed
- Lead sponsor
- Alnylam Pharmaceuticals
- Industry
- Eligibility
- Female only
- Enrollment
- 10 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2020 – 2030
- U.S. locations
- 1
- States / cities
- Iowa City, Iowa
- Conditions
- Mitochondrial Diseases
- Interventions
- Cysteamine Bitartrate
- Drug
- Lead sponsor
- Amgen
- Industry
- Eligibility
- 6 Years to 17 Years
- Enrollment
- 22 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2015 – 2017
- U.S. locations
- 5
- States / cities
- San Diego, California • Stanford, California • Akron, Ohio + 2 more
- Conditions
- Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth, Charcot-Marie-Tooth Disease, Type IA, Charcot-Marie-Tooth Disease Type 2A, Charcot-Marie-Tooth Disease Type 2, Charcot-Marie-Tooth Disease, Type 2C, Charcot-Marie-Tooth Disease Type 2A2B, Charcot-Marie-Tooth Disease Type 2B2, Charcot-Marie-Tooth Disease Type 2A1, Charcot-Marie-Tooth Disease Type 4B1, Charcot-Marie-Tooth Disease, Type IB, Charcot-Marie-Tooth Disease Type 2B1, Charcot-Marie-Tooth Disease Type 2U (Diagnosis), Charcot-Marie-Tooth Disease Type 4A, Charcot-Marie-Tooth Disease, Type 4A, Axonal Form, Charcot-Marie-Tooth Disease Type 2A2A, Charcot-Marie-Tooth Disease Type 2S (Disorder), Charcot-Marie-Tooth Disease and Deafness, Charcot-Marie-Tooth Disease Type 4B2, Charcot-Marie-Tooth Disease Type 4H, Charcot-Marie-Tooth Disease Type 1F, Charcot-Marie-Tooth Disease Type 4C, Charcot-Marie-Tooth Disease Type 4E, Charcot-Marie-Tooth Disease Type 1D, Charcot-Marie-Tooth Disease Type 2Q (Diagnosis), Charcot-Marie-Tooth Disease Type 2A2, Charcot-Marie-Tooth Disease Type 2N (Diagnosis), Charcot-Marie-Tooth Disease Type 2B5, Charcot-Marie-Tooth Disease Type 2D, Charcot-Marie-Tooth Disease Type 4D, Charcot-Marie-Tooth Disease Type 2K, Charcot-Marie-Tooth Disease Type 2L (Diagnosis), Charcot-Marie-Tooth Disease Type 2T, Charcot-Marie-Tooth Disease Type 2I, Charcot-Marie-Tooth Disease Type 2J, Charcot-Marie-Tooth Disease Type 2E, Charcot-Marie-Tooth Disease Type 2G, Charcot-Marie-Tooth Disease Type 1C, Charcot-Marie-Tooth Disease Type 2R, Charcot-Marie-Tooth Disease Type 2O (Diagnosis), Charcot-Marie-Tooth Disease Type 2M, Charcot-Marie-Tooth Disease Type 2P, Charcot-Marie-Tooth Disease Type 2Y, Charcot-Marie-Tooth Disease Type 4F (Diagnosis), Charcot-Marie-Tooth Disease Type 4B3, Charcot-Marie-Tooth Disease Type 2H, HNPP, X-Linked Charcot-Marie-Tooth Disease, Charcot Marie Tooth Disease (CMT)
- Interventions
- Not listed
- Lead sponsor
- Hereditary Neuropathy Foundation
- Government
- Eligibility
- Not listed
- Enrollment
- 10,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2013 – 2029
- U.S. locations
- 1
- States / cities
- New York, New York
- Conditions
- Optic Atrophy, Non-arteritic Anterior Ischemic Optic Neuropathy
- Interventions
- QPI-1007 at various doses
- Drug
- Lead sponsor
- Quark Pharmaceuticals
- Industry
- Eligibility
- 50 Years and older
- Enrollment
- 48 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2010 – 2013
- U.S. locations
- 22
- States / cities
- Phoenix, Arizona • Beverly Hills, California • Los Angeles, California + 19 more
- Conditions
- Charcot Marie Tooth Disease
- Interventions
- Not listed
- Lead sponsor
- Michael Shy
- Other
- Eligibility
- Not listed
- Enrollment
- 5,000 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2010 – 2026
- U.S. locations
- 18
- States / cities
- Los Angeles, California • Palo Alto, California • Aurora, Colorado + 13 more
- Conditions
- Charcot-Marie-Tooth Disease
- Interventions
- NMD670, Placebo
- Drug
- Lead sponsor
- NMD Pharma A/S
- Industry
- Eligibility
- 18 Years to 70 Years
- Enrollment
- 81 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2024 – 2025
- U.S. locations
- 8
- States / cities
- Kansas City, Kansas • Boston, Massachusetts • Columbia, Missouri + 5 more