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NBIA

Showing 1 - 15 of 15
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Testing of NBIA Genes: Analysis of Genetic Heterogeneity and

Completed
  • Neurodegeneration With Brain Iron Accumulation (NBIA)
  • Establishment of mitochondrial markers
  • Sequencing tests
  • Talence, France
    Centre Hospitalier Universitaire de Bordeaux
Nov 7, 2022

Intellectual Disability, Rubinstein-Taybi Syndrome, Cystic Fibrosis Trial in Bordeaux (Ex-vivo approach concerning 25 patients,

Not yet recruiting
  • Intellectual Disability
  • +6 more
  • Ex-vivo approach concerning 25 patients
  • In-vitro approach concerning 25 patients
  • Bordeaux, France
    Hopital Pellegrin
Jan 23, 2023

Natural History Patient-reported Outcome Measures

Recruiting
  • Neurodegeneration With Brain Iron Accumulation (NBIA)
    • Portland, Oregon
      Oregon Health & Science University
    Oct 5, 2020

    MPAN Trial (Passive Stretching, Mobilization, Muscle strengthening)

    Not yet recruiting
    • MPAN
    • Passive Stretching
    • +3 more
    • (no location specified)
    Jan 20, 2023

    Pantothenate Kinase-Associated Neurodegeneration Trial (Deferiprone)

    No longer available
    • Pantothenate Kinase-Associated Neurodegeneration
    • (no location specified)
    Nov 9, 2022

    Genetic Disease, Nervous System Diseases Trial (Patient cohort, Control cohort)

    Not yet recruiting
    • Genetic Disease
    • Nervous System Diseases
    • Patient cohort
    • Control cohort
    • (no location specified)
    Sep 15, 2023

    A Natural History Study of Infantile Neuroaxonal Dystrophy

    Completed
    • Neuroaxonal Dystrophy, Infantile
      • Beijing, China
      • +4 more
      Apr 7, 2022

      Rare Diseases Trial (Data set as defined by the ERN Research Workgroup of the European Commission)

      Not yet recruiting
      • Rare Diseases
      • Data set as defined by the ERN Research Workgroup of the European Commission
      • (no location specified)
      Sep 28, 2021

      Pantothenate Kinase-Associated Neurodegeneration Trial in Portland (CoA-Z, Placebo)

      Active, not recruiting
      • Pantothenate Kinase-Associated Neurodegeneration
      • CoA-Z
      • Placebo
      • Portland, Oregon
        Oregon Health & Science University
      Jan 25, 2022

      Protection Response to Cellular Stress in BPAN's Patient Study

      Not yet recruiting
      • Children and Adults With BPAN Carrying Pathogenic Variants of WDR45
      • BPAN Patients
      • Bron, France
        Service de génétique - Laboratoire de Biologie Médicale Multi-Si
      Jul 13, 2023

      Phenotypic Description of Atypical Clinical Forms of PLA2G6

      Enrolling by invitation
      • Neuroaxonal Dystrophy, Atypical
        • Clermont-Ferrand, France
        • +6 more
        Jun 29, 2022

        Pantothenate Kinase-Associated Neurodegeneration Trial in Worldwide (Deferiprone oral solution)

        Completed
        Has Results
        • Pantothenate Kinase-Associated Neurodegeneration
        • Deferiprone oral solution
        • Oakland, California
        • +3 more
        Aug 12, 2020

        Brain Perfusion in Pantothenate Kinase-associated

        Completed
        • Pantothenate Kinase-associated Neurodegeneration (PKAN)
          • Portland, Oregon
            Oregon Health & Science University
          May 24, 2018

          Pantothenate Kinase-Associated Neurodegeneration Trial in Worldwide (Deferiprone oral solution, Placebo)

          Completed
          Has Results
          • Pantothenate Kinase-Associated Neurodegeneration
          • Deferiprone oral solution
          • Placebo
          • Oakland, California
          • +3 more
          Jun 27, 2019

          Parkinson's Disease Trial in Lille (deferiprone, )

          Completed
          • Parkinson's Disease
          • Lille, France
            Service de Neurologie, Clinique Neurologique, EA 2683, IFR 114
          Aug 31, 2012