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

NCT03484767 | Completed

• 1 other identifier: mRNA-3704-P001
• Study Type: observational
• Target: 97
• Locations: 4 countries
• Sites: 17

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.

Conditions

Methylmalonic Acidemia; Propionic Acidemia

Keywords

methylmalonic acidemia; MMA; organic acidemia; mut deficiency; inborn errors of metabolism; mut0; mut-; PA; PCCA; PCCB; propionic acidemia

Outcome Measures

Primary Outcomes (5)

• Change in plasma methylmalonic acid levels (MMA only)

  Baseline through 12 months

• 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

• 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

Study Arms (2)

Methylmalonic Acidemia Participants

Individuals with isolated MMA (mut0 and mut-)

Propionic Acidemia Participants

Individuals with isolated PA

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals of any age with confirmed diagnosis of isolated MMA due to MUT deficiency (mut0 or mut-) or isolated PA

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

Sponsors & Collaborators

• ModernaTX, Inc.: lead

Study Sites (17)

Stanford Health Services

Stanford, California, 94305, United States

Location

Emory Univeristy

Atlanta, Georgia, 30322, United States

Location

Ann & Robert H. Lurie Children's Hospital of Chicago

Chicago, Illinois, 60611, United States

Location

Johns Hopkins University School of Medicine

Baltimore, Maryland, 21287, United States

Location

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Location

Icahn School of Medicine at Mount Sinai

New York, New York, 10029, United States

Location

Duke University Medical Center

Durham, North Carolina, 27705, United States

Location

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

University of Pittsburgh

Pittsburgh, Pennsylvania, 15224, United States

Location

Vanderbilt University Medical Center

Nashville, Tennessee, 37232, United States

Location

Seattle Children's Hospital

Seattle, Washington, 98105, United States

Location

Hôpital de la Timone

Marseille, Bouches-du-Rhône, 13005, France

Location

Hôpital Necker - Enfants Malades

Paris, Paris, 75743, France

Location

Hospital de Cruces

Barakaldo, Vizcaya, 48903, Spain

Location

Great Ormond Street Hospital

Bloomsbury, Greater London, WC1N 3JH, United Kingdom

Location

Birmingham Children's Hospital

Birmingham, B4 6NH, United Kingdom

Location

Manchester University Hospitals

Manchester, M13 9WL, United Kingdom

Location

MeSH Terms

Conditions

Methylmalonic acidemia; Propionic Acidemia; Metabolism, Inborn Errors

Condition Hierarchy (Ancestors)

Amino Acid Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 13, 2018
• First Posted: April 2, 2018
• Study Start: March 20, 2018
• Primary Completion: May 29, 2021
• Study Completion: May 29, 2021
• Last Updated: August 2, 2021

Record last verified: 2021-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (11); ES (1); GB (3); FR (2)