Clinical Trials on Microcephalic Osteodysplastic Primordial Dwarfism Type 1

Total 6 results

  • Hospices Civils de Lyon
    Not yet recruiting
    Study of the Pathophysiology of RNU4ATAC and RTTN Associated Syndromes (ATAC)
    Lowry Wood Syndrome | Roifman Syndrome | Taybi Linder Syndrome | Microcephalic Osteodysplastic Primordial Dwarfism Types I and III
    France
  • Assistance Publique - Hôpitaux de Paris
    Completed
    The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (NANPIM)
    Seckel Syndrome | Microcephalic Osteodysplastic Primordial Dwarfism Type II
    France
  • Nemours Children's Clinic
    Potentials Foundation; Walking with Giants Foundation
    Recruiting
    Primordial Dwarfism Registry
    MOPDII | RNU4atac-opathy (e.g. MOPDI/III, Lowry-Wood Syndrome, Roifman Syndrome) | Meier-Gorlin Syndrome | Saul-Wilson Syndrome | Ligase 4 Syndrome | Microcephalic Primordial Dwarfism
    United States
  • 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
  • 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
  • Centre Hospitalier Universitaire de Liege
    Sanofi; Takeda; University of Liege; Orchard Therapeutics; Centre Hospitalier Régional... and other collaborators
    Recruiting
    Baby Detect : Genomic Newborn Screening
    Congenital Adrenal Hyperplasia | Hemophilia A | Hemophilia B | Mucopolysaccharidosis I | Mucopolysaccharidosis II | Cystic Fibrosis | Alpha 1-Antitrypsin Deficiency | Sickle Cell Disease | Fanconi Anemia | Chronic Granulomatous Disease | Wilson Disease | Severe Congenital Neutropenia | Ornithine Transcarbamylase... and other conditions
    Belgium

Sponsors and Collaborators

Medical Conditions

Drug Interventions

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CROs in Cote d'Ivoire

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