Propionic Acidemia and Methylmalonic Acidemia Specimen Sampling Study

A Stool and Biological Specimen Sampling Study in Subjects with Propionic or Methylmalonic Acidemia

Protocol Description

This study gathers information about bacteria that exists in the digestive systems of patients with propionic acidemia (PA) or methylmalonic acidemia (MMA). Samples may be used for research into related research and development activities and the study of clinical indications of diseases.

Eligibility Criteria

This study is enrolling male and female candidates age 2 and older who have been diagnosed with PA or MMA.
Boys and Girls: Age 2 years and older

Requirements

For this study, participants will be given a 5- to 10-day course of an antibiotic as part of their medical care for PA or MMA. Stool samples will need to be collected from bowel movements on 2 to 4 different days prior to taking the oral antibiotic and again up to 4 times in the period of 2 to 7 days after completing the course of antibiotics. The study sponsor will analyze the stool samples to get more information about bacteria in the digestive system.
Visits: Screening and other study visits can be done as part of normal care for these conditions.
Duration: 2 months

Status: Enrolling by Invitation

Source(s) of Support

Kaleido Biosciences

Primary Investigator

Gerard Vockley, MD, PhD

Contact Information

For more information about the study or enrollment, please contact: 
Mark Tumblin, Clinical Research Coordinator
412-692-5969