Long-term management of organic acidemia with CARBAGLU®

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study focuses on the long-term management of patients with propionic acidemia (PA) and methylmalonic acidemia (MMA) who have been treated with carglumic acid for at least six months. It involves collecting treatment characteristics, clinical outcomes, and healthcare utilization data at multiple time points over a period of 54 months. Additionally, qualitative interviews with patients and caregivers will be conducted to understand the disease and treatment burden. The study aims to gather comprehensive data from up to 85 patients across six European countries.

Why it matters

Who can join: the full rules

Inclusion Criteria:

1. Patient has confirmed diagnosis of an organic acidemia (e.g., MMA or PA)
2. Patient initiated treatment with carglumic acid for long-term management of MMA or PA
3. Patient has been treated with carglumic acid for a minimum of 6 months
4. Patient (or caregiver) is able to comply with all prospective study procedures
5. Patient (or caregiver) is able to provide informed consent

Exclusion Criteria:

* None

Where it's running

• Hopital Des Enfants, CHU de Bordeaux-GH Pellegrin
  Bordeaux, France Recruiting
• Hopital de la Conception
  Marseille, France Recruiting
• Hôpital de la Timone
  Marseille, France Recruiting
• CHU de Nancy - Hopitaux de Brabois
  Nancy, France Recruiting
• Hôpital Necker Enfants Malades
  Paris, France Recruiting
• CHU de Rouen
  Rouen, France Recruiting

Study contacts

• Principal investigator: Sufin Yap, MD — Sheffield Children's NHS Trust
• Study coordinator: Vincenzo Giordano, MD
• Email: giordano.v@recordati.com
• Phone: 33 1 79911282

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Observing the effects of Carbaglu® in treating MMA and PA in patients

  This study is testing how safe Carbaglu® is for treating high ammonia levels in people with Methylmalonic Acidemia and Propionic Acidemia, both kids and adults.

  Recruiting at 5 sites Recordati Group · Washington D.C., District of Columbia and 4 other locations · NCT05040178

• AAV-based gene therapy for Propionic Acidemia in young children

  This trial tests whether an AAVrh10-PCCA gene therapy can be given safely to children with Propionic Acidemia to help their bodies manage the metabolic problem.

  Recruiting Phase 1 Mayo Clinic · Rochester, Minnesota · NCT07643844

• Characterizing people with propionic acidemia using past medical records

  This project collects and reviews medical records to see what health events and outcomes people with propionic acidemia experience.

  Recruiting at 15 sites ModernaTX, Inc. · Stanford, California and 28 other locations · NCT05769621

• Long-term evaluation of mRNA-3705 for treating methylmalonic acidemia

  This study is testing if a new treatment called mRNA-3705 is safe and effective for people with methylmalonic acidemia who have already tried it in previous studies.

  Recruiting at 11 sites Phase 1/2 ModernaTX, Inc. · Los Angeles, California and 11 other locations · NCT05295433

• Long-term safety assessment of mRNA-3927 for propionic acidemia patients

  This study is testing the long-term safety and effectiveness of the mRNA-3927 treatment for people with propionic acidemia who have already participated in a previous study.

  Recruiting at 12 sites Phase 1/2 ModernaTX, Inc. · Los Angeles, California and 21 other locations · NCT05130437

• Treatment for Propionic Acidemia using mRNA-3927

  This study is testing a new treatment called mRNA-3927 to see if it is safe and effective for people with propionic acidemia, including infants and older children.

  Recruiting at 19 sites Phase 1/2 ModernaTX, Inc. · Los Angeles, California and 34 other locations · NCT04159103

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.