CARBAGLU® study in organic acidemia
Research type
Research Study
Full title
Understanding the long-term management of organic acidemia (OA) patients with Carbaglu®: A mixed methods approach.
IRAS ID
243164
Contact name
Sufin Yap
Contact email
Sponsor organisation
Orphan Europe
Duration of Study in the UK
1 years, 6 months, 0 days
Research summary
Organic acidemias (OAs) are a group of rare inherited metabolic disorders. Each OA is associated with a specific enzyme deficiency that causes organic acids to build up in the blood and urine. The accumulated compounds are toxic, resulting in the clinical features of these disorders.
This study looks at 2 specific OA disorders, methylmalonic aciduria (MMA) and propionic aciduria (PA). These are life-long conditions and there is no cure. The disease is mainly managed by a protein restricted diet where compliance is imperative to health, growth and development. Poor control can be catastrophic.
One of the toxic compounds which accumulates in the blood when the condition is poorly controlled is ammonia. The prescription drug CARBAGLU® has ammonia lowering properties.
Patients diagnosed MMA or PA, and who have been receiving CARBAGLU® for a minimum of 6 months, will take part in this observational study. It is being conducted to find out the long-term benefits of using CARBAGLU®, and to help develop guidelines for the future standard of care for patients with OA.
After consent has been given by the patient (or parent, if applicable), data will be collected from the patient’s medical records at 3 timepoints: at baseline, and after 12 and 18 months. There will also be a one-on-one interview with patients and/or their parent/carer. The purpose of the interview is to explore the symptoms of MMA/PA, the impact of the disease on family life and daily, and the impact of non-adherence. There are no protocol required medical procedures and no study related hospital visits.
Investigators from hospitals which specialise in the treatment of metabolic disorders in children and adults, in 6 European countries including the UK, will be asked to identify prospective participants. 40 patients diagnosed with MMA or PA will take part.
REC name
North West - Liverpool Central Research Ethics Committee
REC reference
18/NW/0354
Date of REC Opinion
14 Jun 2018
REC opinion
Further Information Favourable Opinion