Clinical Trials on Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation

Total 8 results

  • Assistance Publique - Hôpitaux de Paris
    Completed
    Biomarkers in Autosomal Dominant Cerebellar Ataxia (BIOSCA)
    Spinocerebellar Ataxia Type 1 | Spinocerebellar Ataxia Type 2 | Spinocerebellar Ataxia, Autosomal Recessive 3 | Episodic Ataxia, Type 7
    France
  • University College, London
    Washington University School of Medicine; University of Washington; Alzheimer... and other collaborators
    Not yet recruiting
    A Trial Evaluating the Effect of NIO752 on Tau Synthesis Measured by a Process Known as SILK (NIO-SILK)
    Alzheimer Disease | Autosomal Dominant Alzheimer Disease Due to Mutation of Presenilin 1 (Disorder) | Autosomal Dominant Alzheimer Disease Due to Mutation of Presenilin 2 (Disorder) | Autosomal Dominant Alzheimer Disease Due to Mutation of Amyloid Precursor Protein (Disorder)
  • Sanford Health
    National Ataxia Foundation; Beyond Batten Disease Foundation; Pitt Hopkins Research... and other collaborators
    Recruiting
    Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford (CoRDS)
    Mitochondrial Diseases | Retinitis Pigmentosa | Myasthenia Gravis | Eosinophilic Gastroenteritis | Multiple System Atrophy | Leiomyosarcoma | Leukodystrophy | Anal Fistula | Spinocerebellar Ataxia Type 3 | Friedreich Ataxia | Kennedy Disease | Lyme Disease | Hemophagocytic Lymphohistiocytosis | Spinocerebellar Ataxia... and other conditions
    United States, Australia
  • Institut National de la Santé Et de la Recherche...
    Assistance Publique - Hôpitaux de Paris
    Completed
    Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations
    Spinocerebellar Ataxias | Spastic Paraplegias
    France
  • Hope Biosciences Stem Cell Research Foundation
    Hope Biosciences
    No longer available
    HBCMD01- Expanded Access for the Treatment of Congenital Muscular Dystrophy.
    Congenital Muscular Dystrophy Due to Lamin A/C Mutation
    United States
  • UK Kidney Association
    Recruiting
    National Registry of Rare Kidney Diseases (RaDaR)
    Vasculitis | AL Amyloidosis | Tuberous Sclerosis | Fabry Disease | Cystinuria | Focal Segmental Glomerulosclerosis | IgA Nephropathy | Bartter Syndrome | Pure Red Cell Aplasia | Membranous Nephropathy | Atypical Hemolytic Uremic Syndrome | Autosomal Dominant Polycystic Kidney Disease | Cystinosis | Nephronophthisis | BK Nephropathy and other conditions
    United Kingdom
  • RTI International
    Eunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaborators
    Enrolling by invitation
    Early Check: Expanded Screening in Newborns
    Primary Hyperoxaluria Type 3 | Diabetes Mellitus | Hemophilia A | Hemophilia B | Hereditary Fructose Intolerance | Cystic Fibrosis | Factor VII Deficiency | Phenylketonurias | Sickle Cell Disease | Dravet Syndrome | Duchenne Muscular Dystrophy | Prader-Willi Syndrome | Fragile X Syndrome | Chronic Granulomatous Disease and other conditions
    United States
  • Cure CMD
    Recruiting
    Congenital Muscle Disease Study of Patient and Family Reported Medical Information (CMDPROS)
    Emery-Dreifuss Muscular Dystrophy | Congenital Myasthenic Syndrome | Limb-Girdle Muscular Dystrophy | Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency | Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy) and other conditions
    United States

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