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Conditions: Retinitis Pigmentosa, Usher Syndrome Type 2, Deaf Blind, Retinal Disease, Eye Diseases, Eye Diseases, Hereditary, Eye Disorders Congenital, Vision Disorders
Interventions: Ultevursen, Sham-procedure; Drug · Other
Lead sponsor: Laboratoires Thea; Industry
Eligibility: 12 Years and older
Enrollment: 7 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2022
U.S. locations: 10
States / cities: San Diego, California • San Francisco, California • Miami, Florida + 7 more

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: Wolfram Syndrome, Diabetes Mellitus, Optic Nerve Atrophy, Deafness, Diabetes Insipidus, Ataxia
Interventions: Not listed
Lead sponsor: Washington University School of Medicine; Other
Eligibility: 0 Years and older
Enrollment: 5,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2027
U.S. locations: 1
States / cities: St Louis, Missouri

Conditions: Usher Syndrome, Retinitis Pigmentosa, Congenital Hearing Impairment
Interventions: Audiogram, Electroretinogram; Procedure
Lead sponsor: National Center for Research Resources (NCRR); NIH
Eligibility: 0 Years and older
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2001 – 2002
U.S. locations: 1
States / cities: New York, New York

Conditions: Idiopathic Intracranial Hypertension
Interventions: Acetazolamide, Placebo, Formal weight loss counselling program; Drug · Behavioral
Lead sponsor: St. Luke's-Roosevelt Hospital Center; Other
Eligibility: 18 Years to 60 Years
Enrollment: 165 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2010 – 2014
U.S. locations: 39
States / cities: Birmingham, Alabama • Los Angeles, California • Waterbury, Connecticut + 31 more

Conditions: Type 1 Diabetes, Diabetes Insipidus, Diabetes Mellitus, Wolfram Syndrome
Interventions: Not listed
Lead sponsor: Washington University School of Medicine; Other
Eligibility: 1 Day and older
Enrollment: 101 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2012 – 2017
U.S. locations: 1
States / cities: St Louis, Missouri

Conditions: Retinal Degeneration, Retinitis Pigmentosa
Interventions: Not listed
Lead sponsor: National Eye Institute (NEI); NIH
Eligibility: 4 Years and older
Enrollment: 3,549 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2005 – 2016
U.S. locations: 3
States / cities: Bethesda, Maryland • Boston, Massachusetts • Cleveland, Ohio

Conditions: Usher's Syndrome
Interventions: Blood draw for the laboratory assessment; Drug
Lead sponsor: Sanofi; Industry
Eligibility: 18 Years and older
Enrollment: 9 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2031
U.S. locations: 1
States / cities: Portland, Oregon

Conditions: Childhood Cancer
Interventions: Highlighting Patients at Risk for Sensory Screening (HPARSS); Other
Lead sponsor: Washington University School of Medicine; Other
Eligibility: 7 Years to 17 Years
Enrollment: 146 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2027
U.S. locations: 1
States / cities: St Louis, Missouri

Conditions: Hearing and Vision Loss
Interventions: Fitting algorithm; Other
Lead sponsor: University of Minnesota; Other
Eligibility: 18 Years to 80 Years
Enrollment: 41 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2023
U.S. locations: 1
States / cities: Minneapolis, Minnesota

Conditions: Retinitis Pigmentosa
Interventions: Not listed
Lead sponsor: National Eye Institute (NEI); NIH
Eligibility: Not listed
Enrollment: 200 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1993 – 2002
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Primary Photoreceptor Disease, Retinitis Pigmentosa (RP), Usher Syndrome, Inherited Retinal Disease (IRD), Rod-Cone Dystrophy, Rod-Cone Disease, Retinal Degeneration, Cone-Rod Disease (C-RD), Cone-Rod Dystrophy
Interventions: OpCT-001; Biological
Lead sponsor: BlueRock Therapeutics; Industry
Eligibility: 18 Years and older
Enrollment: 54 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2030
U.S. locations: 5
States / cities: Los Angeles, California • Miami, Florida • Philadelphia, Pennsylvania + 2 more

Conditions: Retinitis Pigmentosa, Usher Syndrome Type 2, Usher Syndrome Type 3
Interventions: NT-501, Sham; Drug · Procedure
Lead sponsor: Neurotech Pharmaceuticals; Industry
Eligibility: 18 Years to 55 Years
Enrollment: 22 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2019
U.S. locations: 1
States / cities: San Francisco, California

Conditions: Deafness, Blindness
Interventions: DSL Workshop; Behavioral
Lead sponsor: US Department of Veterans Affairs; Federal
Eligibility: 55 Years and older
Enrollment: 13 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2013
U.S. locations: 2
States / cities: Decatur, Georgia • Portland, Oregon

Conditions: Retinitis Pigmentosa (RP), Usher Syndrome Type 2, Deaf Blind, Retinal Disease, Eye Diseases, Hereditary, Eye Disorders Congenital, Vision Disorders
Interventions: Intravitreal Injection of Ultevursen, No intervention, will not receive any active study intervention; Drug · Other
Lead sponsor: Laboratoires Thea; Industry
Eligibility: 8 Years and older
Enrollment: 81 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2028
U.S. locations: 10
States / cities: San Francisco, California • Miami, Florida • Atlanta, Georgia + 7 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: Retinal Disease, Age-Related Macular Degeneration, Retinitis Pigmentosa, Stargardt Disease, Optic Neuropathy, Nonarteritic Ischemic Optic Neuropathy, Optic Atrophy, Optic Nerve Disease, Glaucoma, Leber Hereditary Optic Neuropathy, Blindness, Vision Loss Night, Vision Loss Partial, Vision, Low, Retinopathy, Maculopathy, Macular Degeneration, Retina Atrophy
Interventions: Arm 1; Procedure
Lead sponsor: MD Stem Cells; Industry
Eligibility: 18 Years and older
Enrollment: 500 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2028
U.S. locations: 2
States / cities: Westport, Connecticut • Coral Springs, Florida

Conditions: Usher Syndrome, Cochlear Implantation
Interventions: Experimental manipulation of stimulation parameters; Other
Lead sponsor: Ohio State University; Other
Eligibility: 1 Year to 85 Years
Enrollment: 29 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2025
U.S. locations: 4
States / cities: Boston, Massachusetts • Columbus, Ohio • Nashville, Tennessee

Conditions: Delirium
Interventions: iPREPARED; Behavioral
Lead sponsor: Mayo Clinic; Other
Eligibility: 60 Years and older
Enrollment: 120 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2021 – 2027
U.S. locations: 1
States / cities: Rochester, Minnesota

Conditions: Retinitis Pigmentosa, Usher Syndrome Type 2, Deaf Blind, Retinal Disease, Eye Diseases, Eye Diseases, Hereditary, Eye Disorders Congenital, Vision Disorders
Interventions: QR-421a, Sham-procedure; Drug · Other
Lead sponsor: Laboratoires Thea; Industry
Eligibility: 12 Years and older
Enrollment: 5 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2022
U.S. locations: 2
States / cities: Dallas, Texas • Madison, Wisconsin

Conditions: Wolfram Syndrome
Interventions: AMX0035; Drug
Lead sponsor: Amylyx Pharmaceuticals Inc.; Industry
Eligibility: 17 Years and older
Enrollment: 12 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2028
U.S. locations: 1
States / cities: St Louis, Missouri

Conditions: Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome, Early Infantile Epileptic Encephalopathy, FOXG1 Syndrome, KBG Syndrome, Noonan Syndrome, Severe Hemophilia A, Short Bowel Syndrome, Beta-Propeller Protein-Associated Neurodegeneration, Brain Injury of Prematurity With Periventricular Leukomalacia, Chromosome 17p13.3 Microdeletion Syndrome, Chromosome 1q43-1q44 Deletion, Cockayne Syndrome, Congenital Diaphragmatic Hernia, End-Stage Renal Disease With Cloacal Anomaly, Mitochondrial Depletion Disorder, Severe Factor VII Deficiency
Interventions: Family Centered pediatric palliative care for family caregivers of children with rare diseases.; Behavioral
Lead sponsor: Children's National Research Institute; Other
Eligibility: 12 Months to 99 Years
Enrollment: 480 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2025 – 2029
U.S. locations: 1
States / cities: Washington D.C., District of Columbia

Conditions: Wolfram Syndrome
Interventions: Not listed
Lead sponsor: Washington University School of Medicine; Other
Eligibility: 1 Day and older
Enrollment: 127 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2023
U.S. locations: 1
States / cities: St Louis, Missouri

Conditions: Mitochondrial Disorders, Mitochondrial Genetic Disorders, Mitochondrial Diseases, Disorder of Mitochondrial Respiratory Chain Complexes, Deletion and Duplication of Mitochondrial DNA
Interventions: Not listed
Lead sponsor: Columbia University; Other
Eligibility: Not listed
Enrollment: 1,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2011 – 2026
U.S. locations: 16
States / cities: San Diego, California • Stanford, California • Aurora, Colorado + 12 more

Search by objective public record fields.

Study to Evaluate the Efficacy Safety and Tolerability of Ultevursen in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene (Sirius)

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

Wolfram Syndrome and WFS1-related Disorders International Registry and Clinical Study

A Genetic Analysis of Usher Syndrome in Ashkenazi Jews

Idiopathic Intracranial Hypertension Treatment Trial

Tracking Neurodegeneration in Early Wolfram Syndrome

Molecular Genetics of Retinal Degenerations

A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of SAR421869 in Patients With Usher Syndrome Type 1B

Patients At Risk for Sensory Screening (HPARSS) to Enhance Sensory Deficit Screening in Childhood Cancer Survivors

Validating a Self-fitting Hearing Aid

Study of Usher Syndromes, Type 1 and Type 2

A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO)

Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa

Workshops for Veterans With Vision and Hearing Loss

Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene

Inherited Retinal Degenerative Disease Registry

Stem Cell Ophthalmology Treatment Study II

Auditory Neural Function in Implanted Patients With Usher Syndrome

Improve the Patients' Recovery With Family- Caregivers to End Delirium

Study to Evaluate the Efficacy Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene With Early to Moderate Vision Loss (Celeste)

AMX0035 in Adult Patients With Wolfram Syndrome

Palliative Care Needs of Children With Rare Diseases and Their Families

I-Tracking Neurodegeneration in Early Wolfram Syndrome

North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)