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



Status:Recruiting
Conditions:Other Indications
Therapuetic Areas:Other
Healthy:No
Age Range:Any
Updated:9/20/2018
Start Date:March 20, 2018
End Date:March 2021
Contact:Moderna Clinical Trials
Email:clinicaltrials@modernatx.com
Phone:855-663-6762

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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.


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
We found this trial at
6
sites
300 Longwood Ave
Boston, Massachusetts 02115
(617) 355-6000
Boston Children's Hospital Boston Children's Hospital is a 395-bed comprehensive center for pediatric health care....
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4200 Fifth Ave
Pittsburgh, Pennsylvania 15260
(412) 624-4141
University of Pittsburgh The University of Pittsburgh is a state-related research university, founded as the...
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Atlanta, Georgia 30329
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733 North Broadway
Baltimore, Maryland 21205
(410) 955-3182
Johns Hopkins University School of Medicine Johns Hopkins Medicine (JHM), headquartered in Baltimore, Maryland, is...
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Birmingham, 35233
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4800 Sand Point Way NE
Seattle, Washington 98105
(206) 987-2000
Seattle Children's Hospital Seattle Children’s Hospital specializes in meeting the unique physical, emotional and developmental...
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Seattle, WA
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