Breath biopsy in inborn errors of metabolism: A proof-of-principle study in propionic acidemia.
Oleg A Shchelochkov, Huw Davies, Robert P Mohney...
https://pubmed.ncbi.nlm.nih.gov/39787887Actively Recruiting
Age: 1Month - 100Years
All Genders
Healthy Volunteers
ID02890342
Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia in Patients and Family Members
Led by National Human Genome Research Institute (NHGRI) · Updated on 2026-04-20
1045
Participants Needed
2
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Propionic acidemia (PA) is a rare metabolic disorder where the body cannot properly break down certain chemicals from food, leading to serious health problems affecting growth, learning, heart, abdomen, and other organs. This research aims to better understand PA, its natural history, and the genes that might contribute to it, focusing on patients in the United States. The study also seeks to clarify the benefits of newborn screening and examine the frequency and triggers of complications in PA patients. Participants include people with PA aged 2 years and older, unaffected family members, and healthy volunteers. The study involves annual or periodic 3 to 5-day hospital visits where patients undergo various evaluations such as blood and urine sampling, physical exams, dietary assessments, specialist consultations, and advanced tests including genetic studies, imaging, and metabolic assessments. Family members may have shorter visits for sample collection and medical history. Some patients undergoing transplantation may participate in tissue collection. During the study, participants will have thorough clinical assessments including heart tests, brain scans, ultrasounds, dental and eye exams, and microbiome sampling. Researchers will collect data on clinical, biochemical, microbiological, and molecular parameters to describe PA's effects over time. Stable isotope studies and other specialized tests are also performed. Participants will receive results of standard medical and genetic tests, and may be evaluated in person or via telehealth. The study is ongoing and aims to monitor long-term complications and natural disease progression.
CONDITIONS
Brief Title
Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia
Who Can Participate
Age: 1Month - 100Years
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Patients aged 2 years or older with confirmed propionic acidemia by biochemical, molecular, or enzymatic tests
- Participants of any gender and ethnicity over 1 month old may enroll remotely for natural history data collection
- Unaffected family members over 1 month old of any ethnicity or race may join as controls
- Healthy volunteers aged 12 to 40 years meeting specific body mass index criteria
- Patients undergoing transplantation surgery at Children's Hospital of Pittsburgh may participate in tissue collection
- Pregnant participants may remain in the study with some procedure restrictions until pregnancy concludes
You will not qualify if you...
- Patients with poor metabolic control, no primary metabolic/genetics physician, or intercurrent infection may be excluded
- Participants too ill to travel may enroll in limited remote consultations only
- Healthy volunteers with halitosis, cavities, dental or gum problems, respiratory diseases, tobacco use, or electronic nicotine delivery use are excluded
- NIH staff and their families may participate only in the healthy volunteer group
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person or remote)
Diagnostic Evaluation
Duration - 4 to 5 days per evaluation
Participants undergo evaluations including blood drawing, urine and stool collections, genomic studies, ophthalmological and cardiology exams, radiological procedures, MRI/MRS scans, dietary assessment, and neurobehavioral evaluation to assess the natural history of propionic acidemia.
1 inpatient evaluation lasting 4 to 5 days; additional remote or in-person assessments may occur
Long-term Monitoring
Duration - Up to several years until study completion
Participants are observed over time to collect ongoing natural history data, including clinical, microbiological, biochemical, and molecular parameters.
Periodic evaluations through in-person or telehealth visits as scheduled
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
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Research Team
S
Susan C Ferry, R.N.
C
Charles P Venditti, M.D.
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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Published Research Related To This Trial
Severity modeling of propionic acidemia using clinical and laboratory biomarkers.
Oleg A Shchelochkov, Irini Manoli, Paul Juneau...
https://pubmed.ncbi.nlm.nih.gov/34007002Chronic kidney disease in propionic acidemia.
Oleg A Shchelochkov, Irini Manoli, Jennifer L Sloan...
https://pubmed.ncbi.nlm.nih.gov/31249402