An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and Pediatrics

Recordati

Status

Enrolling

Conditions

Hyperammonemia

Methylmalonic Acidemia

Propionic Acidemia

Treatments

Drug: Carglumic Acid

Study type

Observational

Funder types

Industry

Identifiers

NCT05040178

CARBAGLU-RRDUS-PASS-0573

Details and patient eligibility

About

To obtain short-term and long-term clinical safety information, in pediatric and adult patients with PA and MMA treated with Carbaglu®.

Full description

This study is being conducted to obtain short-term and long-term clinical safety information from adult and pediatric patients treated for hyperammonemia due to Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA). This is an observational/non-interventional study. Patients will be treated per the prescribing information and routine medical practice.

Only available data will be collected as part of the study including developmental outcomes, details of treatment with Carbaglu® and other treatments for hyperammonemia including dietary and protein management, plasma ammonia levels, pregnancy and maternal complications, adverse effects on the developing fetus and neonate, adverse effects on the infant through first year of life.

Enrollment

20 estimated patients

Sex

All

Volunteers

No Healthy Volunteers

Inclusion criteria

Provision of signed and dated informed consent/assent form
Prescribed and treated with Carbaglu®
Have an established diagnosis of PA or MMA defined as follows:
- Diagnosed with PA by semi quantitative urine organic acid analysis, defined as presence of elevated methylcitric acid and normal methylmalonic acid levels and no evidence of biotin related disorders in the organic acid analysis; OR
- Diagnosed with MMA by semi quantitative urine organic acid analysis, defined as elevation of methylmalonic acid and no evidence of vitamin B12 dependent disorder on plasma amino acid analysis (vitamin B12 dependency is defined by documented vitamin B12 responsiveness).

AND/OR