Deaf-Blind Disorders
Deaf-Blind Disorders
Explore linked clinical trials. Standard reference: MESH:M050070623 results · Page 1 of 1
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| SENSE-Brain Health Pro for Older Adults With Sensory Loss | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Ear Diseases, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, blindness (disorder), eye disorder, hearing disorder, hearing loss disorder, nervous system disorder, otorhinolaryngologic disease, vision disorder | Not yet recruiting | Not applicable | 2026-10-05 | NCT07856888 | |
| Study to Evaluate the Long-Term Safety of Ultevursen in Participants With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Ear Diseases, Eye Abnormalities, Eye Diseases, Hereditary, Hearing Loss, Sensorineural, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, Usher syndrome, Usher syndrome type 2, blindness (disorder), eye disorder, hearing disorder, hearing loss disorder, hereditary disease, inherited retinal dystrophy, nervous system disorder, otorhinolaryngologic disease, retinal degeneration, retinal disorder, retinitis pigmentosa, vision disorder | Not yet recruiting | Phase 2 | 2026-09-01 | NCT07796646 | |
| A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO) | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Ear Diseases, Eye Diseases, Hereditary, Hearing Loss, Sensorineural, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Rod-Cone Dystrophy, Sensation Disorders, Signs and Symptoms, Usher syndrome, blindness (disorder), cone-rod dystrophy, eye disorder, hearing disorder, hearing loss disorder, hereditary disease, inherited retinal dystrophy, nervous system disorder, otorhinolaryngologic disease, retinal degeneration, retinal disorder, retinitis pigmentosa, vision disorder | Recruiting | Phase 1 / Phase 2 | 2026-08-19 | NCT06789445 | |
| A 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Ear Diseases, Eye Diseases, Hereditary, Hearing Loss, Sensorineural, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, Usher syndrome, blindness (disorder), eye disorder, hearing disorder, hearing loss disorder, hereditary disease, inherited retinal dystrophy, nervous system disorder, otorhinolaryngologic disease, retinal degeneration, retinal disorder, retinitis pigmentosa, vision disorder | Not yet recruiting | Phase 3 | 2026-07-17 | NCT07710196 | |
| Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Ear Diseases, Eye Abnormalities, Eye Diseases, Hereditary, Hearing Loss, Sensorineural, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, Usher syndrome, Usher syndrome type 2, blindness (disorder), eye disorder, hearing disorder, hearing loss disorder, hereditary disease, inherited retinal dystrophy, nervous system disorder, otorhinolaryngologic disease, retinal degeneration, retinal disorder, retinitis pigmentosa, vision disorder | Active, not recruiting | Phase 2 | 2026-07-09 | NCT06627179 | |
| 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Ear Diseases, Eye Diseases, Hereditary, Hearing Loss, Sensorineural, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, Usher syndrome, blindness (disorder), eye disorder, hearing disorder, hearing loss disorder, hereditary disease, inherited retinal dystrophy, nervous system disorder, otorhinolaryngologic disease, retinal degeneration, retinal disorder, retinitis pigmentosa, vision disorder | Not yet recruiting | Phase 3 | 2026-07-01 | NCT07290530 | |
| 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 | |
| Oral N-acetylcysteine for Retinitis Pigmentosa | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Ear Diseases, Eye Diseases, Hereditary, Hearing Loss, Sensorineural, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, Usher syndrome, blindness (disorder), eye disorder, hearing disorder, hearing loss disorder, hereditary disease, inherited retinal dystrophy, nervous system disorder, otorhinolaryngologic disease, retinal degeneration, retinal disorder, retinitis pigmentosa, vision disorder | Active, not recruiting | Phase 3 | 2026-06-15 | NCT05537220 | |
| Inherited Retinal Degenerative Disease Registry | Abnormalities, Multiple, Bardet-Biedl syndrome, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Charcot-Marie-Tooth disease, Chronic Disease, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Disease Attributes, Dyslipidemias, Ear Diseases, Eye Diseases, Hereditary, Goldmann-Favre syndrome, Hearing Loss, Sensorineural, Juvenile Macular Degeneration, Kearns-Sayre syndrome, Leber congenital amaurosis, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neurologic Manifestations, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, Ocular Motility Disorders, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Peroxisomal Disorders, Rod-Cone Dystrophy, Sensation Disorders, Signs and Symptoms, Stargardt disease, Usher syndrome, X-linked disease, abetalipoproteinemia, achromatopsia, achromatopsia 3, adult Refsum disease, blindness (disorder), brain disorder, cardiomyopathy, cardiovascular disorder, central areolar choroidal dystrophy, central nervous system disorder, central nervous system malformation, choroideremia, color vision disorder, cone dystrophy, cone-rod dystrophy, congenital stationary night blindness, cranial nerve neuropathy, enhanced S-cone syndrome, eye disorder, fundus albipunctatus, hearing disorder, hearing loss disorder, heart disorder, hereditary disease, hereditary motor and sensory neuropathy, hypobetalipoproteinemia, hypolipoproteinemia, hypothalamic disorder, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, inherited neurodegenerative disorder, inherited retinal dystrophy, juvenile neuronal ceroid lipofuscinosis, lysosomal lipid storage disorder, macular degeneration, metabolic disease, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, ophthalmoplegia, optic choroid disorder, ornithine aminotransferase deficiency, otorhinolaryngologic disease, palsy, peripheral nervous system disorder, polyneuropathy, progressive external ophthalmoplegia, retinal degeneration, retinal disorder, retinitis pigmentosa, retinitis punctata albescens, retinoschisis, uveal disorder, vision disorder, vitelliform macular dystrophy | Recruiting | Not stated | 2026-05-19 | NCT02435940 | |
| Adaptive Optics Imaging of Outer Retinal Diseases | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Ear Diseases, Eye Diseases, Hereditary, Hearing Loss, Sensorineural, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Rod-Cone Dystrophy, Sensation Disorders, Signs and Symptoms, Usher syndrome, age-related macular degeneration, blindness (disorder), cone dystrophy, cone-rod dystrophy, eye disorder, hearing disorder, hearing loss disorder, hereditary disease, inherited retinal dystrophy, late-onset retinal degeneration, macular degeneration, nervous system disorder, otorhinolaryngologic disease, retinal degeneration, retinal disorder, retinitis pigmentosa, vision disorder | Recruiting | Not stated | 2026-05-08 | NCT05355415 | |
| Observational Study to Investigate the Short-term Effects of Transcorneal Electrical Stimulation on Visual Performance | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Ear Diseases, Eye Diseases, Hereditary, Hearing Loss, Sensorineural, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, Usher syndrome, blindness (disorder), cone-rod dystrophy, eye disorder, hearing disorder, hearing loss disorder, hereditary disease, inherited retinal dystrophy, nervous system disorder, otorhinolaryngologic disease, retinal degeneration, retinal disorder, retinitis pigmentosa, vision disorder | Recruiting | Not stated | 2026-05-01 | NCT07548944 | |
| 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 | |
| Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset | Abnormalities, Multiple, CHARGE syndrome, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Ear Diseases, Eye Diseases, Hereditary, Kabuki syndrome, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, blindness (disorder), coloboma, eye disorder, hearing disorder, hearing loss disorder, hereditary disease, hydrolethalus syndrome 1, nervous system disorder, otorhinolaryngologic disease, vision disorder | Recruiting | Not stated | 2026-03-27 | NCT06475651 | |
| Natural History of Photoreceptor Degeneration in USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Ear Diseases, Eye Diseases, Hereditary, Hearing Loss, Sensorineural, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, Usher syndrome, blindness (disorder), eye disorder, hearing disorder, hearing loss disorder, hereditary disease, inherited retinal dystrophy, nervous system disorder, otorhinolaryngologic disease, retinal degeneration, retinal disorder, retinitis pigmentosa, vision disorder | Recruiting | Not stated | 2026-02-10 | NCT07278843 | |
| Palliative Care Needs of Children With Rare Diseases and Their Families | Abnormalities, Multiple, Bone Diseases, Developmental, CHARGE syndrome, Cardiovascular Abnormalities, Cockayne syndrome, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, DNA repair disease, Deaf-Blind Disorders, Deafness, Digestive System Diseases, Disease Attributes, Dwarfism, Ear Diseases, Eye Diseases, Hereditary, FOXG1 disorder, Hemic and Lymphatic Diseases, Hernia, Hernia, Diaphragmatic, Internal Hernia, KBG syndrome, Musculoskeletal Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Noonan syndrome, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms, Postoperative Complications, Rare Diseases, Sensation Disorders, Signs and Symptoms, Skin and Connective Tissue Diseases, anxiety disorder, blindness (disorder), blood coagulation disease, bone disorder, cardiovascular disorder, chromosomal disorder, coagulation protein disease, coloboma, congenital diaphragmatic hernia, congenital heart disease, congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, connective tissue disorder, depressive disorder, digestive system disorder, eye disorder, factor VII deficiency, hearing disorder, hearing loss disorder, heart disorder, hematologic disorder, hemophilia A, hemorrhagic disease, hereditary disease, infantile epileptic-dyskinetic encephalopathy, inherited blood coagulation disorder, inherited neurodegenerative disorder, intellectual disability, intestinal disorder, malabsorption syndrome, metabolic disease, musculoskeletal system disorder, nervous system disorder, neurodegeneration with brain iron accumulation 5, neurodegenerative disease, otorhinolaryngologic disease, psychiatric disorder, severe hemophilia A, short bowel syndrome, trisomy 13, vision disorder | Enrolling by invitation | Not applicable | 2026-01-28 | NCT06938542 | |
| 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 | |
| A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of SAR421869 in Patients With Usher Syndrome Type 1B | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Ear Diseases, Eye Diseases, Hereditary, Hearing Loss, Sensorineural, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, Usher syndrome, blindness (disorder), eye disorder, hearing disorder, hearing loss disorder, hereditary disease, inherited retinal dystrophy, nervous system disorder, otorhinolaryngologic disease, retinal degeneration, retinal disorder, retinitis pigmentosa, vision disorder | Active, not recruiting | Phase 2 | 2026-01-13 | NCT02065011 | |
| 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 | |
| Study of Subretinally Injected AAVB-081 in Patients With Usher Syndrome Type IB (USH1B) Retinitis Pigmentosa | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Ear Diseases, Eye Diseases, Hereditary, Hearing Loss, Sensorineural, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, Usher syndrome, Usher syndrome type 1B, blindness (disorder), eye disorder, hearing disorder, hearing loss disorder, hereditary disease, inherited retinal dystrophy, nervous system disorder, otorhinolaryngologic disease, retinal degeneration, retinal disorder, retinitis pigmentosa, vision disorder | Recruiting | Phase 1 / Phase 2 | 2025-05-02 | NCT06591793 | |
| 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 | |
| GROWing Up With Rare GENEtic Syndromes | 22q11.2 deletion syndrome, 46 XY differences of sex development, 48,XXYY syndrome, Abnormalities, Multiple, Allan-Herndon-Dudley syndrome, Aortic Stenosis, Supravalvular, Bardet-Biedl syndrome, Blepharophimosis syndrome Ohdo type, Bone Diseases, Developmental, CHARGE syndrome, Cardiovascular Abnormalities, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Cytopenia, De Lange Syndrome, Deaf-Blind Disorders, Deafness, DiGeorge syndrome, Ear Diseases, Eye Diseases, Hereditary, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hemic and Lymphatic Diseases, Imprinting Disorders, Jacobsen Distal 11q Deletion Syndrome, Kallmann syndrome, Klinefelter syndrome, Limb Deformities, Congenital, Lymphatic Abnormalities, Male Urogenital Diseases, Malformations of Cortical Development, Group I, Musculoskeletal Abnormalities, Neoplasms by Histologic Type, Neoplasms, Multiple Primary, Neoplasms, Nerve Tissue, Neurobehavioral Manifestations, Neurologic Manifestations, Noonan syndrome, Nutritional and Metabolic Diseases, Overweight, Pathological Conditions, Signs and Symptoms, Prader-Willi syndrome, Rett syndrome, Saethre-Chotzen syndrome, Sensation Disorders, Sex Chromosome Disorders, Signs and Symptoms, Skin and Connective Tissue Diseases, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, Williams syndrome, X-linked disease, adrenal gland disorder, adrenogenital syndrome, aortic valve disorder, aortic valve stenosis, blepharophimosis - intellectual disability syndrome, Ohdo type, blindness (disorder), blood platelet disease, bone disorder, brain disorder, cardiovascular disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, chromosomal disorder, coloboma, congenital adrenal hyperplasia, congenital heart disease, connective tissue disorder, craniosynostosis, disorder of sexual differentiation, dysostosis, endocrine system disorder, eye disorder, gonadal disorder, gonadal dysgenesis, hamartoma, hearing disorder, hearing loss disorder, heart disorder, heart valve disorder, hematologic disorder, hereditary disease, hereditary neoplastic syndrome, hypogonadism, hypoparathyroidism, hypothalamic disorder, inborn errors of metabolism, inherited neurodegenerative disorder, intellectual disability, lymphatic system disorder, metabolic disease, musculoskeletal system disorder, neoplasm, nerve sheath neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neurofibroma, neurofibromatosis, non-acquired combined pituitary hormone deficiency, nutritional disorder, obesity disorder, otorhinolaryngologic disease, overnutrition, parathyroid gland disorder, retinitis pigmentosa, sex chromosome disorder of sex development, steroid inherited metabolic disorder, syndactyly, synostosis, tetrasomy X, thrombocytopenia, tuberous sclerosis, velocardiofacial syndrome, vision disorder | Recruiting | Not stated | 2023-09-06 | NCT04463316 | |
| Natural History Study of Usher Syndrome ( Light4Deaf ) | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Ear Diseases, Eye Diseases, Hereditary, Hearing Loss, Sensorineural, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, Usher syndrome, blindness (disorder), eye disorder, hearing disorder, hearing loss disorder, hereditary disease, inherited retinal dystrophy, nervous system disorder, otorhinolaryngologic disease, retinal degeneration, retinal disorder, retinitis pigmentosa, vision disorder | Recruiting | Not stated | 2020-12-14 | NCT04665726 |