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

Launched by RECORDATI RARE DISEASES · Sep 9, 2021

Keywords

ClinConnect Summary

This clinical trial is studying the safety of a medication called Carbaglu® for people of all ages who have certain metabolic disorders known as Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA). These conditions can cause a dangerous buildup of ammonia in the blood, which can lead to serious health problems. The trial aims to gather information on how well Carbaglu® works both in the short term and long term for patients diagnosed with these conditions.

To participate in the study, individuals need to have a signed consent form and must be currently prescribed Carbaglu®. They must also have a confirmed diagnosis of either PA or MMA through specific tests. There are no exclusions based on other health conditions, which means a wide range of patients could be eligible to join. Participants will be monitored throughout the study to ensure their safety and to collect valuable information about the treatment's effects. This trial is currently open for recruitment and welcomes both children and adults.

Gender

ALL

Eligibility criteria

• 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