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Understanding Propionic Acidemia (PA)

This observational study aims to better understand propionic acidemia (PA), a metabolic disease where the body has trouble breaking down certain chemicals from food. Researchers want to learn more about how PA causes problems with growth, learning, and organs like the heart and abdomen. The study will also investigate the genes that might contribute to PA. You may be able to join if you are at least 1 month old and have a confirmed diagnosis of propionic acidemia. The study is looking to enroll 1045 participants, and its current status is unclear. This study does not involve any interventions or treatments, but instead focuses on observing the natural course of the disease and its long-term complications.

Study design
This is an observational study with a planned enrollment of 1045 participants, including individuals with propionic acidemia and some unaffected family members.
What's involved
Participants with PA will have a 3 to 5-day hospital visit every year or every few years. Family members may have just one visit.
Compensation
Not stated in the trial record.
Follow-up
The study will assess long-term complications of Propionic Acidemia on an ongoing basis.

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NCT02890342

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

Recruiting
Not specifiedAges 1+Observational
National Human Genome Research Institute (NHGRI)
~1,045 participants
Updated 2026-08-31 on ClinicalTrials.gov

At a glance

Recruiting sites
2 of 2 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Natural history to asess long term complications of Propionic Acidemia
Measured over Ongoing

Conditions

Metabolic Disease
Propionic Acidemia
Organic Acidemia

Explore related trials

Metabolic DisorderPropionic Acidemia

Where it's being run

2 sites across 2 states
Maryland1
Pennsylvania1

Study leadership

  • Charles P Venditti, M.D. · PRINCIPAL_INVESTIGATOR · National Human Genome Research Institute (NHGRI)

Who to contact

Susan C Ferry, R.N.
[email protected]
(301) 496-6213
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Patients 2 years of age or older, of any gender and ethnicity, with propionic acidemia are eligible to enroll in this protocol. Patients diagnosis will be confirmed based on biochemical and/or molecular and enzymatic testing. Participants of any gender and ethnicity over 1 month of age are eligible to enroll remotely for collection of outside records and natural history data. They will be eligible to enroll in the full study for in-person evaluation at 2 years of age.
Unaffected family members over 1 month of age, of any ethnicity or race, may be included in the study as household controls for microbiome studies and/or for genetic analysis. Studies in unaffected family members may include collection of medical and family history; if necessary completion of physical examination; drawing of blood for research purposes include testing of DNA; collection of stool samples for microbiome studies; collection of dietary history using pen-and-paper or electronic food diary and questionnaires; collection of saliva for metabolite and DNA analysis. In some unaffected family members without a known familial cause of propionic acidemia, exome sequencing or genome sequencing could be performed. Unaffected family members will not receive direct benefit from taking part in the study.
If a participant becomes pregnant while on study, the participant can remain on study. The only way to learn more about the critical biological differences in those who affected with propionic acidemia who are pregnant is to continue to follow pregnant women on study.
Healthy volunteers may be eligible to participate in the study if they are between 12 - 40 years of age, must meet specific BMI criteria (similar to affected individuals studied).
Patients with propionic acidemia over 1 month of age, of any gender and ethnicity, undergoing a transplantation surgery at Children s Hospital of Pittsburgh, are eligible to participate in the tissue collection arm of the study.

Exclusion

A subset of participants may be enrolled in the tissue collection part of the study only (i.e. if they are too sick to travel). We can may also arrange limited remote consultation with our research team and NIH consultants, the participants referring physician and the participant/their legal guardian through the telephone or an NIH supported telehealth platform for participants who are unable to safely travel to NIH. This would not replace a study visit but would be used when travel isn t possible due to extenuating circumstances (e.g. pandemic). Participants would be encouraged to follow-up for a more thorough in-person evaluation when they are able to travel to NIH.
For the healthy volunteers, they will be excluded if they have halitosis, cavities, dental or gingival problems, respiratory diseases (for example, asthma or recent history of COVID19), use tobacco products (for example, cigarette smoking or chewing tobacco), or use electronic nicotine delivery systems (for example, use of e-cigarettes or vaping devices), as this may interfere with accurate measurement of their volatile organic compounds. NIH staff and their family members will be eligible to participate in the healthy volunteer portion of the study.

What this trial measures

  • Natural history to asess long term complications of Propionic AcidemiaOngoing

    assessing the long term complications of Propionic Acidemia during a week long evaluation with imaging, labs, and consultations.