Retrospective Cohort Study to Characterize Propionic Acidemia Patients
Research type
Research Study
Full title
A Retrospective Cohort Study to Characterize Propionic Acidemia Patients
IRAS ID
326851
Contact name
Stephanie Grunewald
Contact email
Sponsor organisation
Moderna TX , Inc
Duration of Study in the UK
2 years, 3 months, 24 days
Research summary
Propionic acidemia (PA) is a rare metabolic disorder, caused by changes to one or more genes. This mutation leads to a problem with a specific enzyme made from those genes, called propionyl-CoA carboxylase (PCC), which breakdowns certain proteins and fats. If the enzyme doesn’t work properly, this breakdown doesn’t occur leading to issues with the body not being able to turn food into energy and can result in build-up of substances that can hurt the body’s cells.
Currently PA is treated by lowering the amount of protein eaten daily, taking dietary supplements or antibiotics, or getting a liver transplant. These treatments have been shown to help the symptoms of PA for some patients, but they do not fix the cause. There are no approved drugs that help to address this defect with the PCC enzyme, therefore there's an unmet medical need for treatment options for PA patients.
mRNA-3927-P002 is a non-interventional study collecting health-related information about PA patients from their medical records from 2015 to approximately 2025 to understand:
• How many times per year, and for how long, they experienced symptoms of PA (including metabolic crisis) requiring emergency care or medication.
• How many times per year they visited the A&E department, needed urgent care, been hospitalised (and duration of this hospitalisation), and taken medicines related or not related to PA
• How their blood and urine laboratory test results are related to PA
• How PA has affected their health, including heart, kidney and liver function.
• How their diet is managed during regular and sick days with PA.
The study will be conducted in approximately 35 sites globally, up to 100 participants aged 6 and over will take part.mRNA-3927-P002 is designed to build a comprehensive database to characterise and describe participants with PA in order to support future research studies.
REC name
North East - Tyne & Wear South Research Ethics Committee
REC reference
23/NE/0139
Date of REC Opinion
4 Sep 2023
REC opinion
Further Information Favourable Opinion