Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses
Explore linked clinical trials. Standard reference: MESH:M001473421 results · Page 1 of 1
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| Investigations of Juvenile Neuronal Ceroid Lipofuscinosis | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, hereditary disease, inborn errors of metabolism, inherited neurodegenerative disorder, juvenile neuronal ceroid lipofuscinosis, lysosomal lipid storage disorder, metabolic disease, nervous system disorder, neurodegenerative disease | Recruiting | Not stated | 2026-10-05 | NCT03307304 | |
| Caregiving Networks Across Disease Context and the Life Course | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Undiagnosed Diseases, diabetes mellitus, endocrine system disorder, glucose metabolism disease, hereditary disease, inborn errors of metabolism, inherited neurodegenerative disorder, lysosomal lipid storage disorder, metabolic disease, nervous system disorder, neurodegenerative disease | Recruiting | Not stated | 2026-09-15 | NCT05007990 | |
| UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, GM2 gangliosidosis, Gangliosidoses, Hemic and Lymphatic Diseases, Hereditary Central Nervous System Demyelinating Diseases, Krabbe disease, Leukoencephalopathies, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Mannosidase Deficiency Diseases, Neurobehavioral Manifestations, Neurologic Manifestations, Neuronal Ceroid-Lipofuscinoses, Niemann-Pick disease, Niemann-Pick disease type A, Nutritional and Metabolic Diseases, Pelizaeus-Merzbacher spectrum disorder, Peroxisomal Disorders, Sandhoff disease, Skin and Connective Tissue Diseases, Sulfatidosis, Tay-Sachs disease, X-linked disease, adrenal gland disorder, adrenocortical insufficiency, adrenoleukodystrophy, alpha-mannosidosis, brain disorder, central nervous system disorder, connective tissue disorder, cutaneous mucinosis, demyelinating disease, endocrine system disorder, hereditary disease, histiocytosis, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inherited neurodegenerative disorder, intellectual disability, juvenile neuronal ceroid lipofuscinosis, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, metachromatic leukodystrophy, mucopolysaccharidosis, mucopolysaccharidosis type 2, nervous system disorder, neurodegenerative disease, non-Langerhans cell histiocytosis, sphingolipidosis | Recruiting | Phase 1 | 2026-09-03 | NCT02254863 | |
| Cerliponase Alfa Observational Study in the US | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, hereditary disease, inborn errors of metabolism, inherited neurodegenerative disorder, lysosomal lipid storage disorder, metabolic disease, nervous system disorder, neurodegenerative disease | Active, not recruiting | Not stated | 2026-06-30 | NCT04476862 | |
| Gene Therapy for Children With CLN3 Batten Disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, hereditary disease, inborn errors of metabolism, inherited neurodegenerative disorder, juvenile neuronal ceroid lipofuscinosis, lysosomal lipid storage disorder, metabolic disease, nervous system disorder, neurodegenerative disease | Active, not recruiting | Phase 1 / Phase 2 | 2026-06-10 | NCT03770572 | |
| 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 | |
| Gene Therapy Trial for CLN6 Batten Disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, hereditary disease, inborn errors of metabolism, inherited neurodegenerative disorder, juvenile neuronal ceroid lipofuscinosis, lysosomal lipid storage disorder, metabolic disease, nervous system disorder, neurodegenerative disease | Not yet recruiting | Phase 1 / Phase 2 | 2026-05-14 | NCT07582484 | |
| Intravitreal ERT to Prevent Retinal Disease Progression in Children With CLN2 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, hereditary disease, inborn errors of metabolism, inherited neurodegenerative disorder, lysosomal lipid storage disorder, metabolic disease, nervous system disorder, neurodegenerative disease, neuronal ceroid lipofuscinosis 2 | Active, not recruiting | Phase 1 / Phase 2 | 2026-04-30 | NCT05152914 | |
| Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, autosomal recessive spinocerebellar ataxia 7, hereditary disease, inborn errors of metabolism, inherited neurodegenerative disorder, lysosomal lipid storage disorder, metabolic disease, nervous system disorder, neurodegenerative disease | Active, not recruiting | Not stated | 2026-04-08 | NCT04098211 | |
| Italian NCL Registry: a Registry for NCL as an Integration Tool for Future Therapeutic Strategies | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, hereditary disease, inborn errors of metabolism, inherited neurodegenerative disorder, lysosomal lipid storage disorder, metabolic disease, nervous system disorder, neurodegenerative disease | Recruiting | Not stated | 2026-03-27 | NCT06844877 | |
| Longitudinal Study of Neurodegenerative Disorders | Bone Diseases, Developmental, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Death, Death, Sudden, GM2 gangliosidosis, Gangliosidoses, Gaucher disease, Hemic and Lymphatic Diseases, Hereditary Central Nervous System Demyelinating Diseases, Infant Death, Krabbe disease, Leukoencephalopathies, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Mannosidase Deficiency Diseases, Mucopolysaccharidosis III, Neuronal Ceroid-Lipofuscinoses, Niemann-Pick disease, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Pelizaeus-Merzbacher spectrum disorder, Sandhoff disease, Skin and Connective Tissue Diseases, Sudden Infant Death, Sulfatidosis, Tay-Sachs disease, X-linked disease, adrenoleukodystrophy, alpha-mannosidosis, bone disorder, brain disorder, central nervous system disorder, connective tissue disorder, cutaneous mucinosis, demyelinating disease, disorder of methionine catabolism, giant axonal neuropathy 1, hereditary disease, histiocytosis, hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inherited neurodegenerative disorder, juvenile neuronal ceroid lipofuscinosis, leukodystrophy, leukoencephalopathy with vanishing white matter 1, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, metachromatic leukodystrophy, mucopolysaccharidosis, mucopolysaccharidosis type 4, mucosulfatidosis, musculoskeletal system disorder, nervous system disorder, neurodegenerative disease, non-Langerhans cell histiocytosis, osteochondrodysplasia, osteopetrosis, osteosclerosis, pantothenate kinase-associated neurodegeneration, purine nucleoside phosphorylase deficiency, sphingolipidosis | Recruiting | Not stated | 2026-02-09 | NCT03333200 | |
| Study for the Treatment for CLN7 Disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, hereditary disease, inborn errors of metabolism, inherited neurodegenerative disorder, lysosomal lipid storage disorder, metabolic disease, nervous system disorder, neurodegenerative disease | Active, not recruiting | Phase 1 | 2025-12-31 | NCT04737460 | |
| A First-in-Human, Open-Label, Dose-Escalation Study to Evaluate the Safety and Tolerability of Gene Therapy With TTX-381 for the Ocular Manifestations Associated With Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, hereditary disease, inborn errors of metabolism, inherited neurodegenerative disorder, lysosomal lipid storage disorder, metabolic disease, nervous system disorder, neurodegenerative disease, neuronal ceroid lipofuscinosis 2 | Recruiting | Phase 1 / Phase 2 | 2025-12-18 | NCT05791864 | |
| Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, hereditary disease, inborn errors of metabolism, inherited neurodegenerative disorder, juvenile neuronal ceroid lipofuscinosis, lysosomal lipid storage disorder, metabolic disease, nervous system disorder, neurodegenerative disease, neuronal ceroid lipofuscinosis 2 | Enrolling by invitation | Not stated | 2025-10-24 | NCT03862274 | |
| Long-Term Follow Up of CLN6 Batten Disease Subjects Following Gene Transfer | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, hereditary disease, inborn errors of metabolism, inherited neurodegenerative disorder, juvenile neuronal ceroid lipofuscinosis, lysosomal lipid storage disorder, metabolic disease, nervous system disorder, neurodegenerative disease | Active, not recruiting | Not stated | 2025-10-02 | NCT04273243 | |
| Clinical and Neuropsychological Investigations in Batten Disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, hereditary disease, inborn errors of metabolism, inherited neurodegenerative disorder, juvenile neuronal ceroid lipofuscinosis, lysosomal lipid storage disorder, metabolic disease, nervous system disorder, neurodegenerative disease | Recruiting | Not stated | 2025-09-12 | NCT01873924 | |
| Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, hereditary disease, inborn errors of metabolism, inherited neurodegenerative disorder, juvenile neuronal ceroid lipofuscinosis, lysosomal lipid storage disorder, metabolic disease, nervous system disorder, neurodegenerative disease | Active, not recruiting | Not stated | 2025-07-30 | NCT03285425 | |
| 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 | |
| NYSCF Scientific Discovery Biobank | Adnexal Diseases, Alzheimer Disease, Early Onset, Alzheimer Disease, Late Onset, Alzheimer disease, CNS demyelinating autoimmune disease, Cognition Disorders, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyskinesias, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Frontotemporal Lobar Degeneration, Genital Diseases, Huntington disease, Lewy body dementia, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neoplasms by Site, Neurologic Manifestations, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, Ocular Motility Disorders, Parkinson disease, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, Stress Disorders, Traumatic, TDP-43 proteinopathy, Urogenital Diseases, Urogenital Neoplasms, Uterine Cervical Neoplasms, acute stress disorder, amyotrophic lateral sclerosis, autoimmune disease, autoimmune disorder of the nervous system, autonomic nervous system disorder, basal ganglia disorder, brain disorder, central nervous system disorder, cervix disorder, choreatic disease, cognitive disorder, corticobasal degeneration disorder, cranial nerve neuropathy, dementia, demyelinating disease, diabetes mellitus, endocrine system disorder, eye disorder, female reproductive system disorder, female reproductive system neoplasm, frontotemporal dementia, glucose metabolism disease, gonadal disorder, hereditary disease, immune system disorder, inborn errors of metabolism, inherited neurodegenerative disorder, juvenile neuronal ceroid lipofuscinosis, lysosomal lipid storage disorder, macular degeneration, malignant endocrine neoplasm, metabolic disease, motor neuron disorder, movement disorder, multiple sclerosis, multiple system atrophy, neoplasm, nervous system disorder, neurodegeneration with brain iron accumulation 2A, neurodegenerative disease, neuromuscular disease, ophthalmoplegia, ovarian cancer, ovarian disorder, palsy, parkinsonian disorder, post-traumatic stress disorder, primary dysautonomia, progressive supranuclear palsy, proteostasis deficiencies, psychiatric disorder, retinal degeneration, retinal disorder, spinal cord disorder, synucleinopathy, tauopathy, type 1 diabetes mellitus, type 2 diabetes mellitus, uterine cancer, uterine disorder, vaginal cancer, vaginal disorder, vulva cancer, vulvar disease | Recruiting | Not stated | 2025-03-03 | NCT06203106 | |
| Gene Therapy Study for Children With CLN5 Batten Disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, hereditary disease, inborn errors of metabolism, inherited neurodegenerative disorder, lysosomal lipid storage disorder, metabolic disease, nervous system disorder, neurodegenerative disease | Active, not recruiting | Phase 1 / Phase 2 | 2024-08-12 | NCT05228145 | |
| Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Kufor-Rakeb syndrome, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, hereditary disease, inborn errors of metabolism, inherited neurodegenerative disorder, juvenile neuronal ceroid lipofuscinosis, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, neurodegenerative disease, neuronal ceroid lipofuscinosis 1, neuronal ceroid lipofuscinosis 5, parkinsonism due to ATP13A2 deficiency, progressive myoclonic epilepsy type 3 | Recruiting | Not stated | 2021-10-29 | NCT04613089 |