Methylmalonic AcidemiaNCT03484767
"The MaP Study": Mapping the Patient Journey in MMA and PA
An observational study of Methylmalonic Acidemia and Propionic Acidemia, run by ModernaTX, Inc. at 17 sites in 4 countries.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Methylmalonic Acidemia, Propionic Acidemia
- How many people
- 97 participants
- Where
- 17 sitesin 4 countries
- Study dates
- 20 Mar 2018to 29 May 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals of any age with confirmed diagnosis of isolated MMA due to MUT deficiency (mut0 or mut-) or isolated PA
Who may be able to join
- 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:
Show all 12Show fewer
- 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
Who cannot join
- 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
Trial locations and contacts
17 sites in 4 countries.
17 sites in 4 countries
United States11 sites
Emory Univeristy
Atlanta, Georgia, 30322
Johns Hopkins University School of Medicine
Baltimore, Maryland, 21287
Boston Children's Hospital
Boston, Massachusetts, 02115
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, 60611
Duke University Medical Center
Durham, North Carolina, 27705
Vanderbilt University Medical Center
Nashville, Tennessee, 37232
Icahn School of Medicine at Mount Sinai
New York, New York, 10029
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
University of Pittsburgh
Pittsburgh, Pennsylvania, 15224
Seattle Children's Hospital
Seattle, Washington, 98105
Stanford Health Services
Stanford, California, 94305
United Kingdom3 sites
Birmingham Children's Hospital
Birmingham, B4 6NH
Great Ormond Street Hospital
Bloomsbury, Greater London, WC1N 3JH
Manchester University Hospitals
Manchester, M13 9WL
France2 sites
Hôpital de la Timone
Marseille, Bouches-du-Rhône, 13005
Hôpital Necker - Enfants Malades
Paris, Paris, 75743
About this study
Official title: 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.
- Conditions
- Methylmalonic Acidemia, Propionic Acidemia
- Keywords
- methylmalonic acidemia, MMA, organic acidemia, mut deficiency, inborn errors of metabolism, mut0, mut-, PA, PCCA, PCCB, propionic acidemia
- Medical subject headings
- Methylmalonic acidemia, Propionic Acidemia, Metabolism, Inborn Errors
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Methylmalonic Acidemia Participants | Individuals with isolated MMA (mut0 and mut-) | |
| Propionic Acidemia Participants | Individuals with isolated PA |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in plasma methylmalonic acid levels (MMA only)
Measured: Baseline through 12 months
Frequency of disease related clinical events in enrolled participants (mut0 and mut- MMA patients)
Measured: Baseline through 12 months
Changes in plasma 2-MC levels (PA only)
Measured: Baseline through 12 months
Changes in plasma 3-HP levels (PA only)
Measured: Baseline through 12 months
Frequency of disease related clinical events in enrolled participants (PA patients)
Measured: Baseline through 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Apr 2018
- Study start20 Mar 2018
- Primary completion29 May 2021
- Study completion29 May 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Methylmalonic AcidemiaStudies of the same condition, open and under way.
- More trials run by ModernaTX, Inc.The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 97 participants (actual)
Sponsor and investigators
- Lead sponsor
- ModernaTX, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03484767
- Sponsor's protocol ID
- mRNA-3704-P001
- Status last verified
- Jul 2021
- First submitted
- 13 Mar 2018
- Last updated
- 2 Aug 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Aug 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Longitudinal, Exploratory, Natural History Study to Further Characterize and Describe the Signs and Symptoms of Patients With Organic Acidemias
- ClinicalTrials.gov ID
- NCT03484767
- Acronym / sponsor ID
- mRNA-3704-P001
- Conditions
- Methylmalonic Acidemia, Propionic Acidemia
- Keywords
- methylmalonic acidemia, MMA, organic acidemia, mut deficiency, inborn errors of metabolism, mut0, mut-, PA
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 97 participants (actual)
- Lead sponsor
- ModernaTX, Inc.Industry (pharma, biotech, devices)
- Study start
- 20 Mar 2018 (actual)
- Primary completion
- 29 May 2021 (actual)
- Study completion
- 29 May 2021 (actual)
- First posted
- 2 Apr 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Methylmalonic Acidemia Participants | – | –Individuals with isolated MMA (mut0 and mut-) |
| Propionic Acidemia Participants | – | –Individuals with isolated PA |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals of any age with confirmed diagnosis of isolated MMA due to MUT deficiency (mut0 or mut-) or isolated PA
Key inclusion criteria (12 listed)
- 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
Key exclusion criteria (4 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Aug 2021.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
17 sites in 4 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Methylmalonic Acidemia and Propionic Acidemia, run by ModernaTX, Inc. at 17 sites in 4 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 12 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 2 Aug 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 17 sites in United States, United Kingdom, France, Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in plasma methylmalonic acid levels (MMA only) (time frame: Baseline through 12 months). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Aug 2021.