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Genetic Diseases clinical trials at UC Health
4 in progress, 3 open to eligible people

  • A Study of Experimental Treatment With Metformin for Fragile X Syndrome

    “Learn if Metformin may be helpful for language, behavior problems, and obesity / excessive appetite in patients with Fragile X Syndrome.”

    open to eligible people ages 6-25

    This study is a controlled trial of metformin in individuals with fragile X syndrome between the ages of 6 and 25 years. Participants will be randomized in a double-blind design to either drug or placebo and will attend three visits to the study site in a 4-month period for a series of tests. The primary objectives are to assess safety, tolerability, and efficacy of metformin in the treatment of language deficits, behavior problems, and obesity/excessive appetite in individuals with fragile X syndrome.

    at UC Davis

  • Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network

    open to eligible people ages 1 month to 100 years

    Background: - Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown. The NIH helped create a network of medical research centers, called the Undiagnosed Diseases Network (UDN), to provide care and answers for these individuals. Objectives: - To improve diagnosis and care for people with undiagnosed diseases. Eligibility: - People with undiagnosed diseases, and their relatives. Design: - Participants will travel to one of the UDN medical centers for a 5-day clinical and research visit. - As part of the visit, UDN healthcare providers may ask participants to have: - Clinically indicated tests and procedures performed including: - A physical exam - Blood and urine tests - A review of health and family history - X-rays and body scans - Surveys - Photographs of the face and body - A special diet to see if the body can handle the food without having a reaction, like vomiting - Video or voice recordings - Other tests and procedures to help reach a diagnosis - Research tests and procedures performed including: - A skin biopsy. For this, a small piece of skin will be taken. - Surveys - Other tests and procedures for research that may not be related to a diagnosis or treatment. - Most participants will be asked to give samples for genetic testing. - Participants may be contacted after their visit to discuss test results. They may also be contacted in the future for interviews and surveys. - Relatives of participants may be asked to give samples for genetic testing. They may be asked to have parts of their visit recorded and to have additional tests. They may also be contacted in the future for interviews and surveys. - Clinical and research information collected will be stored in a database. - Information and samples collected will be shared with others for research purposes.

    at UCLA

  • Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy

    open to eligible males ages 5 years and up

    This study is a long-term study of ataluren in participants with nonsense mutation Duchenne muscular dystrophy.

    at UC Davis UCSF

  • A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy

    Sorry, in progress, not accepting new patients

    HOPE-2 is a double-blind clinical trial evaluating the safety and efficacy of a cell therapy called CAP-1002 in study participants with Duchenne muscular dystrophy (DMD). Non-ambulatory and ambulatory boys and young men who meet eligibility criteria will be randomly assigned to receive either CAP-1002 or placebo every 3 months for a total of 4 doses during a 12-month period.

    at UC Davis

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