Methylmalonic and Propionic Acidemias Natural History – The MaP Study

MaP: Mapping the Patient Journey in Methylmalonic and Propionic Acidemia, A Longitudinal, Exploratory, Natural History Study to Further Characterize and Describe the Signs and Symptoms of Patients with Organic Acidemias

Protocol Description

The purpose of this study is to gather patient data into a registry, producing a database to help researchers characterize changes in blood disease biomarkers over time and the frequency and severity of clinical events related to methylmalonic acidemia and propionic acedemia (MaP).

Eligibility Criteria

Subject to certain exclusion criteria, the study is accepting patients of both genders, of all ages, who have a diagnosis of methylmalonic acedemia (mutase deficiency subtype) or propionic acidemia.
Males and Females: All ages

Requirements

Medical record information, including biologic samples and results of blood tests and other assessments, will be added to the MaP database by the participants’ doctors. Additionally, participants will be requested to complete questionnaires related to their health and quality of life.
Visits: None beyond routine clinical care for the condition
Duration: 12 to 36 months, depending on date of enrollment

Status: Open to Enrollment

Source(s) of Support

Modernatx

Primary Investigator

Gerard Vockley, MD, PhD

Contact Information

For more information about the study or enrollment, please contact:
Sandra Braden, RN
412-692-5969