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

July 29, 2021 updated by: ModernaTX, Inc.

A Longitudinal, Exploratory, Natural History Study to Further Characterize and Describe the Signs and Symptoms of Patients With Organic Acidemias

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.

Study Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

97

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
    • Bouches-du-Rhône
      • Marseille cedex 15, Bouches-du-Rhône, France, 13005
        • Hôpital de la Timone
    • Paris
      • Paris cedex 15, Paris, France, 75743
        • Hopital Necker - Enfants malades
  • Spain
    • Vizcaya
      • Barakaldo, Vizcaya, Spain, 48903
        • Hospital de Cruces
  • United Kingdom
      • Birmingham, United Kingdom, B4 6NH
        • Birmingham Children's Hospital
      • Manchester, United Kingdom, M13 9WL
        • Manchester University Hospitals
    • Greater London
      • Bloomsbury, Greater London, United Kingdom, WC1N 3JH
        • Great Ormond Street Hospital
  • United States
    • California
      • Stanford, California, United States, 94305
        • Stanford Health Services
    • Georgia
      • Atlanta, Georgia, United States, 30322
        • Emory Univeristy
    • Illinois
      • Chicago, Illinois, United States, 60611
        • Ann & Robert H. Lurie Children's Hospital of Chicago
    • Maryland
      • Baltimore, Maryland, United States, 21287
        • Johns Hopkins University School Of Medicine
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Boston Children's Hospital
    • New York
      • New York, New York, United States, 10029
        • Icahn School of Medicine at Mount Sinai
    • North Carolina
      • Durham, North Carolina, United States, 27705
        • Duke University Medical Center
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Children's Hospital of Philadelphia
      • Pittsburgh, Pennsylvania, United States, 15224
        • University of Pittsburgh
    • Tennessee
      • Nashville, Tennessee, United States, 37232
        • Vanderbilt University Medical Center
    • Washington
      • Seattle, Washington, United States, 98105
        • Seattle Children's Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

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

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Methylmalonic Acidemia Participants
Individuals with isolated MMA (mut0 and mut-)
Propionic Acidemia Participants
Individuals with isolated PA

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Change in plasma methylmalonic acid levels (MMA only)
Time Frame: Baseline through 12 months
Baseline through 12 months
Frequency of disease related clinical events in enrolled participants (mut0 and mut- MMA patients)
Time Frame: Baseline through 12 months
Baseline through 12 months
Changes in plasma 2-MC levels (PA only)
Time Frame: Baseline through 12 months
Baseline through 12 months
Changes in plasma 3-HP levels (PA only)
Time Frame: Baseline through 12 months
Baseline through 12 months
Frequency of disease related clinical events in enrolled participants (PA patients)
Time Frame: Baseline through 12 months
Baseline through 12 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

ModernaTX, Inc.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

March 20, 2018

Primary Completion (Actual)

May 29, 2021

Study Completion (Actual)

May 29, 2021

Study Registration Dates

First Submitted

March 13, 2018

First Submitted That Met QC Criteria

March 29, 2018

First Posted (Actual)

April 2, 2018

Study Record Updates

Last Update Posted (Actual)

August 2, 2021

Last Update Submitted That Met QC Criteria

July 29, 2021

Last Verified

July 1, 2021

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • mRNA-3704-P001

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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