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

Brief Title

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

Official Title

A Longitudinal, Exploratory, Natural History Study to Further Characterize and Describe the Signs and Symptoms of Patients With Organic Acidemias

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.
    



Study Type

Observational


Primary Outcome

Change in plasma methylmalonic acid levels (MMA only)


Condition

Methylmalonic Acidemia


Study Arms / Comparison Groups

 Methylmalonic Acidemia Participants
Description:  Individuals with isolated MMA (mut0 and mut-)

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

97

Start Date

March 20, 2018

Completion Date

May 29, 2021

Primary Completion Date

May 29, 2021

Eligibility 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
      

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

No

Contacts

, , 

Location Countries

France

Location Countries

France

Administrative Informations


NCT ID

NCT03484767

Organization ID

mRNA-3704-P001


Responsible Party

Sponsor

Study Sponsor

ModernaTX, Inc.


Study Sponsor

, , 


Verification Date

July 2021