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

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03484767
• Other study ID #: mRNA-3704-P001
• Status: Completed
• Start date: March 20, 2018
• Est. completion date: May 29, 2021

Study information

• Verified date: July 2021
• Source: ModernaTX, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical 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.

Recruitment information / eligibility

• 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

Related Conditions & MeSH terms

• Acidosis
• Methylmalonic Acidemia
• Propionic Acidemia

Locations

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

Sponsors (1)

Lead Sponsor	Collaborator
ModernaTX, Inc.

Countries where clinical trial is conducted

United States,  France,  Spain,  United Kingdom, 

Outcome

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