Working...
ClinicalTrials.gov
ClinicalTrials.gov Menu

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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT03484767
Recruitment Status : Recruiting
First Posted : April 2, 2018
Last Update Posted : September 18, 2018
Sponsor:
Information provided by (Responsible Party):
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.

Condition or disease
Methylmalonic Acidemia Propionic Acidemia

Layout table for study information
Study Type : Observational
Estimated Enrollment : 120 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Longitudinal, Exploratory, Natural History Study to Further Characterize and Describe the Signs and Symptoms of Patients With Organic Acidemias
Actual Study Start Date : March 20, 2018
Estimated Primary Completion Date : March 2021
Estimated Study Completion Date : March 2021


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



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


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03484767


Contacts
Layout table for location contacts
Contact: Moderna Clinical Trials 855-663-6762 clinicaltrials@modernatx.com

Locations
Layout table for location information
United States, Georgia
Emory Univeristy Recruiting
Atlanta, Georgia, United States, 30322
United States, Maryland
Johns Hopkins University School of Medicine Recruiting
Baltimore, Maryland, United States, 21287
United States, Massachusetts
Boston Children's Hospital Recruiting
Boston, Massachusetts, United States, 02115
United States, Pennsylvania
University of Pittsburgh Recruiting
Pittsburgh, Pennsylvania, United States, 15224
United States, Washington
Seattle Children's Hospital Recruiting
Seattle, Washington, United States, 98105
United Kingdom
Birmingham Children's Hospital Recruiting
Birmingham, United Kingdom, B4 6NH
Manchester University Hospitals Recruiting
Manchester, United Kingdom, M13 9WL
Sponsors and Collaborators
ModernaTX, Inc.

Layout table for additonal information
Responsible Party: ModernaTX, Inc.
ClinicalTrials.gov Identifier: NCT03484767     History of Changes
Other Study ID Numbers: mRNA-3704-P001
First Posted: April 2, 2018    Key Record Dates
Last Update Posted: September 18, 2018
Last Verified: September 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by ModernaTX, Inc.:
methylmalonic acidemia
MMA
organic acidemia
mut deficiency
inborn errors of metabolism
mut0
mut-
PA
PCCA
PCCB
propionic acidemia

Additional relevant MeSH terms:
Layout table for MeSH terms
Acidosis
Amino Acid Metabolism, Inborn Errors
Propionic Acidemia
Acid-Base Imbalance
Metabolic Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn