Long-Term Observational Study of Carglumic Acid Treatment in Patients With Methylmalonic or Propionic Acidemia

What this Trial Is About

Researchers are conducting a prospective observational study to understand the long-term management of propionic aciduria PA and methylmalonic aciduria MMA using maintenance therapy with carglumic acid NCG. This study collects detailed data on treatment characteristics, clinical outcomes, and healthcare use among patients who have been treated with carglumic acid for more than six months. Additionally, qualitative interviews with adult patients and caregivers gather insights about the disease and treatment burden. The study includes up to 85 patients diagnosed with MMA or PA from several European countries who have used carglumic acid for at least six months. Data is collected at baseline, 12, 18, 36, and 54 months to track changes over time. Participants or their caregivers may also take part in one-on-one phone interviews to discuss symptoms, treatment experiences, preferences, and satisfaction. During the study, researchers review medical charts and record demographic and treatment history information through a web-based system. The interviews are audio-recorded, transcribed, and analyzed to identify patient experiences and treatment impacts. The main outcome measured is the change in the number and duration of metabolic decompensation events over 54 months, along with secondary outcomes like healthcare use, caregiver burden, satisfaction, and maintenance dosage. Participants remain involved for up to 54 months with ongoing data collection and interviews.

Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach