Longitudinal, exploratory, natural history study of patients with MMA due to mut deficiency and PA to characterize the changes in blood disease biomarkers over time and the frequency and severity of clinical events related to their disease.
Study Type
OBSERVATIONAL
Enrollment
97
Stanford Health Services
Stanford, California, United States
Emory Univeristy
Atlanta, Georgia, United States
Change in plasma methylmalonic acid levels (MMA only)
Time frame: Baseline through 12 months
Frequency of disease related clinical events in enrolled participants (mut0 and mut- MMA patients)
Time frame: Baseline through 12 months
Changes in plasma 2-MC levels (PA only)
Time frame: Baseline through 12 months
Changes in plasma 3-HP levels (PA only)
Time frame: Baseline through 12 months
Frequency of disease related clinical events in enrolled participants (PA patients)
Time frame: Baseline through 12 months
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Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, United States
Johns Hopkins University School of Medicine
Baltimore, Maryland, United States
Boston Children's Hospital
Boston, Massachusetts, United States
Icahn School of Medicine at Mount Sinai
New York, New York, United States
Duke University Medical Center
Durham, North Carolina, United States
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
University of Pittsburgh
Pittsburgh, Pennsylvania, United States
Vanderbilt University Medical Center
Nashville, Tennessee, United States
...and 7 more locations