An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and Pediatrics
Purpose
To obtain short-term and long-term clinical safety information, in pediatric and adult patients with PA and MMA treated with Carbaglu®.
Conditions
- Hyperammonemia
- Methylmalonic Acidemia
- Propionic Acidemia
Eligibility
- Eligible Ages
- All ages
- Eligible Genders
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- Provision of signed and dated informed consent/assent form 2. Prescribed and treated with Carbaglu® 3. 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 - Confirmation by molecular genetic testing
Exclusion Criteria
- None
Study Design
- Phase
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Other
Arm Groups
| Arm | Description | Assigned Intervention |
|---|---|---|
| Male and Female Adult and Pediatric Participants | Patients treated with Carbaglu for the treatment for hyperammonemia due to Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA) |
|
Recruiting Locations
Children's National and nearby locations
Washington, District of Columbia 20010
More Details
- NCT ID
- NCT05040178
- Status
- Recruiting
- Sponsor
- Recordati Rare Diseases
Detailed 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.