Actively Recruiting
Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia
Led by National Human Genome Research Institute (NHGRI) · Updated on 2026-04-20
1045
Participants Needed
2
Research Sites
1030 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients 2 years of age or older, of any gender and ethnicity, with propionic acidemia confirmed by biochemical, molecular, or enzymatic testing
- Participants over 1 month of age may enroll remotely for records and natural history data; full in-person evaluation starts at 2 years of age
- Unaffected family members over 1 month of age may be included for microbiome and genetic studies
- Pregnant participants may remain on study with limited procedures
- Healthy volunteers aged 12 to 40 years meeting specific BMI criteria may participate
- Patients with propionic acidemia undergoing transplantation surgery may participate in tissue collection
You will not qualify if you...
- Patients with poor metabolic control, lack of a primary metabolic/genetics physician, or current infection may be excluded
- Participants too sick to travel may enroll in tissue collection only or have limited remote consultations
- Healthy volunteers with halitosis, cavities, dental or gum problems, respiratory diseases, tobacco product use, or electronic nicotine delivery system use are excluded
AI-Screening
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Trial Site Locations
Total: 2 locations
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
2
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15224
Actively Recruiting
Research Team
S
Susan C Ferry, R.N.
CONTACT
C
Charles P Venditti, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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