"The MaP Study": Mapping the Patient Journey in MMA and PA

Completed

Conditions studied: Methylmalonic Acidemia, Propionic Acidemia

In brief

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.

Key facts

Study ID

NCT03484767

Run by

ModernaTX, Inc.

People needed

97

Starts

2018-03-20

Expected to finish

2021-05-29

Last updated by the study team

2021-08-02

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• MMA Only • Patient has a confirmed diagnosis of isolated MMA due to MUT deficiency (mut0 or mut-) based on the following criteria:
• Elevated plasma/serum/DBS or urine methylmalonic acid levels
• Presence of normal serum/plasma vitamin B12 and plasma homocysteine levels
• Confirmed by molecular genetic testing. Genetic testing can be performed after the administration of informed consent if not available, however, molecular genetic results must be confirmed before the second study visit
• PA Only
• Patient has a confirmed diagnosis of isolated PA based on the following criteria:
• Elevated plasma/DBS/urine 2-MC and/or 3-HP
• Elevated plasma/serum/DBS propionylcarnitine (C3)
• Confirmed by genetic testing for mutations of the PCCA or PCCB genes. Genetic testing can be performed after the administration of informed consent if not available, however, molecular genetic results must be confirmed before the second study visit
• Both MMA and PA
• Patient (and/or legally authorized representative as applicable to local regulations) is willing and able to comply with study-related assessments and activities
• Patient or legally authorized representative is willing and able to provide informed consent and/or assent as mandated by local regulation

You may not qualify if…

• Estimated GFR <30 mL/min/1.73m2 based on age appropriate equations or patients who undergo chronic dialysis
• The patient is pregnant or lactating at the time of screening. (Note: Patients who become pregnant during the study may remain in the study) MMA Only
• Patients diagnosed with isolated MMA cblA, cblB, or cblD enzymatic subtypes or methylmalonyl-CoA epimerase deficiency or combined MMA with homocystinuria PA Only
• Patient has a confirmed diagnosis of multiple carboxylase deficiency

Where it is running

• Stanford Health Services — Stanford, California, United States
• Emory Univeristy — Atlanta, Georgia, United States
• 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
• Seattle Children's Hospital — Seattle, Washington, United States
• Hôpital de la Timone — Marseille, Bouches-du-Rhône, France
• Hôpital Necker - Enfants Malades — Paris, Paris, France
• Hospital de Cruces — Barakaldo, Vizcaya, Spain
• Great Ormond Street Hospital — Bloomsbury, Greater London, United Kingdom
• Birmingham Children's Hospital — Birmingham, United Kingdom
• Manchester University Hospitals — Manchester, United Kingdom

Full record on ClinicalTrials.gov

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