Propionic Acidemia Clinical Trial
Official title:
A Longitudinal, Exploratory, Natural History Study to Further Characterize and Describe the Signs and Symptoms of Patients With Organic Acidemias
NCT number | NCT03484767 |
Other study ID # | mRNA-3704-P001 |
Secondary ID | |
Status | Completed |
Phase | |
First received | |
Last updated | |
Start date | March 20, 2018 |
Est. completion date | May 29, 2021 |
Verified date | July 2021 |
Source | ModernaTX, Inc. |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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.
Status | Completed |
Enrollment | 97 |
Est. completion date | May 29, 2021 |
Est. primary completion date | May 29, 2021 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A and older |
Eligibility | 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 |
Country | Name | City | State |
---|---|---|---|
France | Hôpital de la Timone | Marseille cedex 15 | Bouches-du-Rhône |
France | Hôpital Necker - Enfants Malades | Paris cedex 15 | Paris |
Spain | Hospital de Cruces | Barakaldo | Vizcaya |
United Kingdom | Birmingham Children's Hospital | Birmingham | |
United Kingdom | Great Ormond Street Hospital | Bloomsbury | Greater London |
United Kingdom | Manchester University Hospitals | Manchester | |
United States | Emory Univeristy | Atlanta | Georgia |
United States | Johns Hopkins University School of Medicine | Baltimore | Maryland |
United States | Boston Children's Hospital | Boston | Massachusetts |
United States | Ann & Robert H. Lurie Children's Hospital of Chicago | Chicago | Illinois |
United States | Duke University Medical Center | Durham | North Carolina |
United States | Vanderbilt University Medical Center | Nashville | Tennessee |
United States | Icahn School of Medicine at Mount Sinai | New York | New York |
United States | Children's Hospital of Philadelphia | Philadelphia | Pennsylvania |
United States | University of Pittsburgh | Pittsburgh | Pennsylvania |
United States | Seattle Children's Hospital | Seattle | Washington |
United States | Stanford Health Services | Stanford | California |
Lead Sponsor | Collaborator |
---|---|
ModernaTX, Inc. |
United States, France, Spain, United Kingdom,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Change in plasma methylmalonic acid levels (MMA only) | Baseline through 12 months | ||
Primary | Frequency of disease related clinical events in enrolled participants (mut0 and mut- MMA patients) | Baseline through 12 months | ||
Primary | Changes in plasma 2-MC levels (PA only) | Baseline through 12 months | ||
Primary | Changes in plasma 3-HP levels (PA only) | Baseline through 12 months | ||
Primary | Frequency of disease related clinical events in enrolled participants (PA patients) | Baseline through 12 months |
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