Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
National Human Genome Research Institute (NHGRI)
Study ID
NCT02890342
Status
Recruiting
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Conditions

  • Metabolic Disease
  • Organic Acidemia
  • Propionic Acidemia

Eligibility Criteria

Sex
ALL
Age
1 Month - 100 Years
Healthy Volunteers
Accepted

Study Details

Background: People s bodies need to break down food into the chemicals. These chemicals are used for energy and growth. Some people cannot process all chemicals very well. Too much of some chemicals can cause diseases. One of these diseases is called propionic acidemia (PA). People with PA can have problems with growth, learning heart, abdomen, and other organs. Researchers want to better understand how these problems happen. Objective: To learn more about propionic acidemia and the genes that might contribute to it. Eligibility: People at least 2 years old with PA who can travel to the clinic Some unaffected family members Design: Participants will have a 3 to 5-day hospital visit every year or every few years. Family members may have just 1 visit. During the family member visit, they may have: Medical history Physical exam Samples of blood and urine Questions about diet and a food diary Doctors and nurses may do additional studies: Samples of saliva, skin and stool Fluid from a gastronomy tube, if participants have one Dental and eye evaluations A kidney test - a small amount of dye will be injected and blood will be collected. Consultations with specialists A test of calories needed at rest. A clear plastic tent is placed over the participant to measure breathing. Stable isotope study. Participants will take a nonradioactive substance then blow into a bag. Photos taken of the face and body with underwear on Ultrasound of the abdomen Heart tests Hand x-ray Brain scan Participants may have other tests if study doctors recommend them. They will get the results of standard medical tests and genetic tests.

Key Dates

Start date
Nov 29, 2016
Status verified
Sep 2025
Primary completion
Aug 31, 2036
Completion
Aug 31, 2036

Study Design

Enrollment
1,045 participants (estimated)

Arms

  • Arm: Affected Patients with Propionic Acidemia
    Patients with Propionic Acidemia, standard adult, parental permission
  • Arm: Healthy Volunteers
    Healthy Volunteers, standard adult, parental permission
  • Arm: Unaffected Family Members
    Unaffected family members

Primary Outcome Measure

Natural history to asess long term complications of Propionic Acidemia [ Time Frame: Ongoing ]

Central Contacts

Locations (2)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
[email protected]
800-411-1222
Children's Hospital of PittsburghPittsburghPennsylvania15224
James Squires, MD, MS
[email protected]
412-692-5180

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By research site
National Institutes of Health Clinical Center· Bethesda, MDChildren's Hospital of Pittsburgh· Pittsburgh, PA

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