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

M
Melissa Lah, MD

Primary Investigator

Enrolling By Invitation
All
Phase N/A
20 participants needed
2 Locations

Brief description of study

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

Detailed description of study

This study is being conducted to obtain short-term and long-term clinical safety informationdult 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 dietaryd protein management, plasma ammonia levels, pregnancy and maternal complications, adversehe developing fetus and neonate, adverse effects on the infant through first year.

Eligibility of study

You may be eligible for this study if you meet the following criteria:

  • Conditions: Hyperammonemia, Methylmalonic Acidemia, Propionic Acidemia, Riley
  • Gender: All

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 asvated methylcitric acid and normal methylmalonic acid levels andvidence of biotin related disorders in the organic acid analysis; OR
    • Diagnosed with MMA by semi quantitative urine organic acid analysis, defined asvation of methylmalonic acid and no evidence of vitamin B12 dependent disorderd analysis (vitamin B12 dependency is defined by documentedvitamin B12 responsiveness).
AND/OR
  • Confirmation by molecular genetic testing
Exclusion Criteria:
  • None

Updated on 13 Sep 2024. Study ID: MMGE-RECORDATI-15096, 15096
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