Current Environment:

Alert

ENFit Feeding Tube Adapters

GI Feeding Tube Users: if you do not have ENFit tubes, you may need an adapter to deliver feeds or medications. Contact your pharmacy or home care company.

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.

Conditions

Methylmalonic Acidemia, Propionic Acidemia

Recruitment Status

Completed

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

Min Age

N/A

Max Age

N/A

Download Date

August 2, 2021

Principal Investigator

N/A

Primary Contact Information

For more information on this trial, visit clinicaltrials.gov.

Contact

For more information and to contact the study team: