"The MaP Study": Mapping the Patient Journey in MMA and PA
- Conditions
- Propionic AcidemiaMethylmalonic Acidemia
- Registration Number
- NCT03484767
- Lead Sponsor
- ModernaTX, Inc.
- Brief Summary
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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 97
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
- 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
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Frequency of disease related clinical events in enrolled participants (mut0 and mut- MMA patients) Baseline through 12 months Changes in plasma 2-MC levels (PA only) Baseline through 12 months Change in plasma methylmalonic acid levels (MMA only) Baseline through 12 months Changes in plasma 3-HP levels (PA only) Baseline through 12 months Frequency of disease related clinical events in enrolled participants (PA patients) Baseline through 12 months
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (17)
Stanford Health Services
🇺🇸Stanford, California, United States
Children's Hospital of Philadelphia
🇺🇸Philadelphia, Pennsylvania, United States
Boston Children's Hospital
🇺🇸Boston, Massachusetts, United States
Duke University Medical Center
🇺🇸Durham, North Carolina, United States
Great Ormond Street Hospital
🇬🇧Bloomsbury, Greater London, United Kingdom
Birmingham Children's Hospital
🇬🇧Birmingham, United Kingdom
Johns Hopkins University School of Medicine
🇺🇸Baltimore, Maryland, United States
Seattle Children's Hospital
🇺🇸Seattle, Washington, United States
Icahn School of Medicine at Mount Sinai
🇺🇸New York, New York, United States
Hôpital de la Timone
🇫🇷Marseille cedex 15, Bouches-du-Rhône, France
Vanderbilt University Medical Center
🇺🇸Nashville, Tennessee, United States
Emory Univeristy
🇺🇸Atlanta, Georgia, United States
Ann & Robert H. Lurie Children's Hospital of Chicago
🇺🇸Chicago, Illinois, United States
University of Pittsburgh
🇺🇸Pittsburgh, Pennsylvania, United States
Hôpital Necker - Enfants Malades
🇫🇷Paris cedex 15, Paris, France
Manchester University Hospitals
🇬🇧Manchester, United Kingdom
Hospital de Cruces
🇪🇸Barakaldo, Vizcaya, Spain