"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. Read our disclaimer for details. |
| ClinicalTrials.gov Identifier: NCT03484767 |
|
Recruitment Status :
Completed
First Posted : April 2, 2018
Last Update Posted : August 2, 2021
|
Sponsor:
ModernaTX, Inc.
Information provided by (Responsible Party):
ModernaTX, Inc.
- Study Details
- Tabular View
- No Results Posted
- Disclaimer
- How to Read a Study Record
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 |
| Study Type : | Observational |
| Actual Enrollment : | 97 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 |
| Actual Primary Completion Date : | May 29, 2021 |
| Actual Study Completion Date : | May 29, 2021 |
Resource links provided by the National Library of Medicine
| Group/Cohort |
|---|
|
Methylmalonic Acidemia Participants
Individuals with isolated MMA (mut0 and mut-)
|
|
Propionic Acidemia Participants
Individuals with isolated PA
|
Primary Outcome Measures :
- Change in plasma methylmalonic acid levels (MMA only) [ Time Frame: Baseline through 12 months ]
- Frequency of disease related clinical events in enrolled participants (mut0 and mut- MMA patients) [ Time Frame: Baseline through 12 months ]
- Changes in plasma 2-MC levels (PA only) [ Time Frame: Baseline through 12 months ]
- Changes in plasma 3-HP levels (PA only) [ Time Frame: Baseline through 12 months ]
- 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.
| 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
Locations
Show 17 study locations
Sponsors and Collaborators
ModernaTX, Inc.
| Responsible Party: | ModernaTX, Inc. |
| ClinicalTrials.gov Identifier: | NCT03484767 |
| Other Study ID Numbers: |
mRNA-3704-P001 |
| First Posted: | April 2, 2018 Key Record Dates |
| Last Update Posted: | August 2, 2021 |
| Last Verified: | July 2021 |
| Individual Participant Data (IPD) Sharing Statement: | |
| Plan to Share IPD: | No |
| 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:
|
Propionic Acidemia Acidosis Acid-Base Imbalance Metabolic Diseases |
Amino Acid Metabolism, Inborn Errors Metabolism, Inborn Errors Genetic Diseases, Inborn |