An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and Pediatrics
Sponsored by Recordati Rare Diseases
About this trial
Last updated 3 years ago
Study ID
CARBAGLU-RRDUS-PASS-0573
Status
Recruiting
Type
Observational
Placebo
No
Accepting
All
All
Not accepting
Healthy Volunteers
Trial Timing
Started 3 years ago
What is this trial about?
To obtain short-term and long-term clinical safety information, in pediatric and adult
patients with PA and MMA treated with Carbaglu®.
What are the participation requirements?
Inclusion Criteria
1. 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