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rare diseases

Showing 1 - 25 of 58
STUDY
CONDITIONS
INTERVENTIONS
LOCATIONS
LAST UPDATED

SLC13A5 Deficiency Natural History Study - United States Only

Recruiting
  • Citrate Transporter Deficiency
  • +9 more
    • Palo Alto, California
    • +2 more
    Nov 17, 2023

    Structural Chromosome Rearrangements and Brain Disorders

    Enrolling by invitation
    • Rare Diseases
    • +2 more
      • Stockholm, Sweden
        Anna Lindstrand
      Oct 2, 2023

      Rare Diseases, Congenital Disorders Trial in Roma (voice recordings)

      Not yet recruiting
      • Rare Diseases
      • Congenital Disorders
      • voice recordings
      • Roma, Italy
        Fondazione Policlinico Universitario A. Gemelli Irccs
      Jul 19, 2023

      Ethnic Backgrounds on Facial Dysmorphic Features of Rare

      Not yet recruiting
      • Rare Diseases
      • Take photo
      • (no location specified)
      Jun 13, 2023

      Epilepsy, Rare Diseases Trial (Cannabidiol oral solution)

      Not yet recruiting
      • Epilepsy
      • Rare Diseases
      • Cannabidiol oral solution
      • (no location specified)
      Mar 27, 2023

      A Multi-Site Leukopak Repository Providing Annotated

      Recruiting
      • Rare Diseases
      • This is a non-interventional study
      • Waltham, Massachusetts
        Sanguine Biosciences
      Mar 20, 2023

      Rare Diseases Trial in Tübingen (Data collection)

      Recruiting
      • Rare Diseases
      • Data collection
      • Tübingen, Germany
        University Hospital Tübingen
      Mar 22, 2023

      Marfan Syndrome and Quality of Life of Pediatric Patients

      Recruiting
      • Rare Diseases
      • Pediatric Disorder
      • Questionnaire
      • San Donato Milanese, Lombardia, Italy
        IRCCS Policlinico San Donato
      Feb 24, 2023

      Analysis of Muscular Properties in Patients With MFS and EDS

      Recruiting
      • Rare Diseases
      • +2 more
      • Analysis with Ergometer
      • San Donato Milanese, Lombardia, Italy
        IRCCS Policlinico San Donato
      Feb 15, 2023

      Aortic Stiffness in Patients With Genetic Aortopathies

      Not yet recruiting
      • Rare Diseases
      • +2 more
      • Pulsotonometry
      • San Donato Milanese, Lombardia, Italy
        IRCCS Policlinico San Donato
      Jan 27, 2023

      Fatigue, Depressive Disorders and Insomnia in Adult Marfan

      Recruiting
      • Rare Diseases
      • +3 more
      • Questionnaire
      • San Donato Milanese, Lombardia, Italy
        IRCCS Policlinico San Donato
      Jan 25, 2023

      Psychological Support in Adult Patients With Marfan Syndrome

      Recruiting
      • Rare Diseases
      • +2 more
      • Questionnaire
      • San Donato Milanese, Lombardia, Italy
        IRCCS Policlinico San Donato
      Jan 25, 2023

      Quality of Life of Rare Diseases: a Qualitative Approach

      Completed
      • Rare Diseases
      • Semi-structured interview
      • Paris, France
        Hôpital Necker-Enfants Malades
      Feb 2, 2023

      Marfan Syndrome and Facial Dysmorphism: Non-invasive 3D

      Recruiting
      • Rare Diseases
      • Marfan Syndrome
        • San Donato Milanese, Lombardia, Italy
          IRCCS Policlinico San Donato
        Jan 27, 2023

        Neurovegetative Pattern in Thoracic Aortic Aneurysms (TAA)

        Recruiting
        • Rare Diseases
        • Aortic Aneurysm, Thoracic
        • Supine resting (REST) and active standing (STAND)
        • San Donato Milanese, Lombardia, Italy
          IRCCS Policlinico San Donato
        Jan 19, 2023

        Patients Suffering From Rare Genodermatoses

        Recruiting
        • Rare Diseases
        • If a targetable cytokine is increased in the lesional skin of a patient, this patient is treated with the respective antibody therapy (off-label use of approved drug).
        • Linz, Austria
          Kepler University Hospital Linz
        Jan 9, 2023

        Rare Diseases Trial in Washington (FAmily CEntered (FACE) pACP Intervention)

        Recruiting
        • Rare Diseases
        • FAmily CEntered (FACE) pACP Intervention
        • Washington, District of Columbia
          Children's National Hospital
        Nov 14, 2022

        A Lifecourse Map of Diseases in China

        Recruiting
        • Common Diseases
        • Rare Diseases
        • Data analysis
        • Jinan, Shandong, China
          Shandong University
        Nov 3, 2022

        UW Undiagnosed Genetic Diseases Program

        Recruiting
        • Rare Diseases
        • +2 more
        • Trio Whole Genome Sequencing and Participant-Specific Research
        • Madison, Wisconsin
          University of Wisconsin School of Medicine and Public Health
        Nov 4, 2022

        Exome/ Genome Sequencing, Conventional Methods in Rare Diseases

        Recruiting
        • Rare Diseases
        • Genetic Predisposition
        • Retrospective data analysis
        • Tübingen, Germany
          University Hospital Tübingen
        Nov 3, 2022

        Genetic Causes of Discrepant Clinic in Monogenic Twins

        Recruiting
        • Rare Diseases
        • Genetic Predisposition to Disease
        • NGS Diagnostic
        • Tübingen, Germany
          University Hospital Tübingen
        Nov 3, 2022

        Rare Diseases, Genetic Predisposition Trial in Tübingen (Next Generation Sequencing (NGS))

        Recruiting
        • Rare Diseases
        • Genetic Predisposition
        • Next Generation Sequencing (NGS)
        • Tübingen, Germany
          University Hospital Tübingen
        Nov 3, 2022

        Rare Diseases Trial in Germany (CARE-FAM, WEP-CARE)

        Active, not recruiting
        • Rare Diseases
        • CARE-FAM
        • WEP-CARE
        • Augsburg, Germany
        • +16 more
        Sep 14, 2022

        Longitudinal Studies of Patient With FPDMM

        Recruiting
        • Inherited Hematological Diseases
        • +2 more
          • Bethesda, Maryland
            National Institutes of Health Clinical Center
          Aug 24, 2022

          Rare Diseases, Genetic Disease Trial in Angers (Skin biopsy, blood sample, urine sample)

          Recruiting
          • Rare Diseases
          • Genetic Disease
          • Skin biopsy, blood sample, urine sample
          • Angers, France
            Centre Hospitalo-Universitaire d'Angers
          Aug 10, 2022