Study of the Natural History, Physiology, Microbiome, and Biochemistry of Propionic Acidemia in Patients and Family Members

What this Trial Is About

Propionic acidemia PA is a rare metabolic disease where the body cannot properly break down certain chemicals from food, leading to serious health issues affecting growth, learning, and multiple organs. This research aims to better understand PA and the genetic factors that contribute to it by studying patients, their unaffected family members, and healthy volunteers, with a focus on the U.S. population. The study addresses the variability of PA symptoms and complications, as well as treatment outcomes. Participants with PA will have a hospital visit lasting 3 to 5 days every year or every few years, involving a range of evaluations including medical history, physical exams, blood and urine samples, dietary assessments, and specialized tests such as dental, eye, kidney, heart, brain imaging, and microbiome studies. Unaffected family members may have a single visit for similar assessments, including genetic and microbiome analysis. Some participants may also undergo tissue collection during transplantation surgery. Throughout the study, participants will undergo various tests like blood draws, urine and stool collection, imaging scans, and questionnaires to track the natural history and long-term complications of PA. Researchers will gather detailed clinical, biochemical, genetic, and microbiological data to explore how these factors relate to PA symptoms and disease progression. The study is ongoing and may also include telehealth evaluations and follow-ups extending over many years.

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