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

NCT ID: NCT03484767

Last Updated: 2021-08-02

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

97 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-03-20

Study Completion Date

2021-05-29

Brief Summary

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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

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Conditions

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Methylmalonic Acidemia Propionic Acidemia

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Methylmalonic Acidemia Participants

Individuals with isolated MMA (mut0 and mut-)

No interventions assigned to this group

Propionic Acidemia Participants

Individuals with isolated PA

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

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

Exclusion Criteria

* 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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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ModernaTX, Inc.

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Stanford Health Services

Stanford, California, United States

Site Status

Emory Univeristy

Atlanta, Georgia, United States

Site Status

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

Chicago, Illinois, United States

Site Status

Johns Hopkins University School of Medicine

Baltimore, Maryland, United States

Site Status

Boston Children's Hospital

Boston, Massachusetts, United States

Site Status

Icahn School of Medicine at Mount Sinai

New York, New York, United States

Site Status

Duke University Medical Center

Durham, North Carolina, United States

Site Status

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Site Status

University of Pittsburgh

Pittsburgh, Pennsylvania, United States

Site Status

Vanderbilt University Medical Center

Nashville, Tennessee, United States

Site Status

Seattle Children's Hospital

Seattle, Washington, United States

Site Status

Hôpital de la Timone

Marseille, Bouches-du-Rhône, France

Site Status

Hôpital Necker - Enfants Malades

Paris, Paris, France

Site Status

Hospital de Cruces

Barakaldo, Vizcaya, Spain

Site Status

Great Ormond Street Hospital

Bloomsbury, Greater London, United Kingdom

Site Status

Birmingham Children's Hospital

Birmingham, , United Kingdom

Site Status

Manchester University Hospitals

Manchester, , United Kingdom

Site Status

Countries

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United States France Spain United Kingdom

Other Identifiers

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mRNA-3704-P001

Identifier Type: -

Identifier Source: org_study_id

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