SPK-GAA-100
Research type
Research Study
Full title
A Multi-Centre, Low Interventional Study with a Retrospective Component in Participants with Late Onset Pompe Disease
IRAS ID
261386
Contact name
Mark Eldon Roberts
Contact email
Sponsor organisation
Spark Therapeutics
Clinicaltrials.gov Identifier
Duration of Study in the UK
2 years, 0 months, 1 days
Research summary
Pompe Disease is an inherited glycogen storage disorder caused by a deficiency in activity of acid alpha glucosidase enzyme (GAA), which helps to break down a type of sugar in your cells called glycogen. If there is not enough active GAA protein in the body, it will have difficulty breaking down glycogen, which then accumulates in your cells. While many types of cells are affected by Pompe Disease, the damage is most notable in muscles, leading to difficulty breathing and moving.
AAV (adeno-associated virus) is a virus which exists in the environment and commonly can infect people but not cause illness. Many types of medications known as Gene therapy vectors are made using modified versions of AAV. Therapy using AAV genes is being investigated for the potential to transfer normal genes into individuals who have abnormal genetic information which cause disease.
Medications currently under investigation use AAV to give the body normal genetic information to be able to make GAA protein to treat Late onset Pompe Disease (LOPD). This works by overcoming the deficiency in activity of GAA that causes LOPD. These types of medications have not been tested in humans with LOPD however treatment of other diseases using this type of gene therapy has indicated that if a person has antibodies against AAV then a medication made using the virus may not be effective. It is unclear whether it is common for individuals with LOPD to have antibodies against AAV or not.
The purpose of this research study is to obtain information about the occurrence of antibodies AVV to GAA as well as to help gain a better understanding of Pompe Disease by reviewing medical history related to this disease.
REC name
London - West London & GTAC Research Ethics Committee
REC reference
19/LO/1297
Date of REC Opinion
18 Sep 2019
REC opinion
Further Information Favourable Opinion