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rare diseases

Showing 1 - 25 of >10,000
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Quality of Life of Rare Diseases: a Qualitative Approach

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

Ethnic Backgrounds on Facial Dysmorphic Features of Rare

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

Drive Decision-AIDS for Gene Therapy for Rare Diseases (GENETX)

Not yet recruiting
  • Sickle Cell Disease
  • Interview
  • Memphis, Tennessee
    St. Jude Children's Research Hospital
Mar 30, 2023

Atypical Hemolytic Uremic Syndrome, Membranoproliferative Glomerulonephritis, Autosomal Dominant Polycystic Kidney Trial in

Not yet recruiting
  • Atypical Hemolytic Uremic Syndrome
  • +3 more
  • Skin biopsy
  • Ranica, BG, Italy
    Centro di Ricerche Cliniche per le Malattie Rare "Aldo e Cele Da
Aug 9, 2023

A Lifecourse Map of Diseases in China

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

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

Rare Diseases Trial in Tübingen (Data collection)

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

Pregnancy and Medically Assisted Conception in Rare Diseases

Recruiting
  • Rheumatoid Arthritis
  • +10 more
    • Paris, France
      Hôpital Cochin
    Oct 31, 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

    Structural Chromosome Rearrangements and Brain Disorders

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

      Epilepsy, Rare Diseases Trial (Cannabidiol oral solution)

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

      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

      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

      Rare Diseases, Porphyrias Trial in Cartagena

      Active, not recruiting
      • Rare Diseases
      • Porphyrias
        • Cartagena, Bolivar, Colombia
          Gestion Salud
        Aug 9, 2022

        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

        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

        SARS-COV2 Pandemic Serosurvey in a Rare Disease Population

        Completed
        • SARS-COV2 Virus
          • Bethesda, Maryland
          • +1 more
          Dec 16, 2022

          Early Onset Genetic Conditions With Near Complete Penetrance Trial in New York (Genome sequencing-based newborn screening)

          Recruiting
          • Early Onset Genetic Conditions With Near Complete Penetrance
          • Genome sequencing-based newborn screening
          • New York, New York
            Columbia University Irving Medical Center/NYP
          Aug 10, 2023

          Rare Diseases, Genetic Predisposition to Disease Trial in Tübingen (WGS Diagnostic Blood take for genetic diagnostic., Hair

          Recruiting
          • Rare Diseases
          • Genetic Predisposition to Disease
          • WGS Diagnostic Blood take for genetic diagnostic.
          • Hair collection
          • Tübingen, Germany
          • +1 more
          May 17, 2022

          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

          A Multi-Site Leukopak Repository Providing Annotated

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

          Mortality of Rare Diseases in Taiwan With Real-world Evidence

          Completed
          • Rare Diseases
          • +5 more
          • longitudinal observational study
          • Tainan, Taiwan
            Department of Family Medicine, National Cheng Kung Univ Hosp
          May 9, 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

          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