AAV Gene Therapy Screening Protocol (ECLIPSE)
Research type
Research Study
Full title
Screening Protocol to Determine Patient Eligibility for Inclusion in AAV Gene Therapy Clinical Trials (ECLIPSE)
IRAS ID
249896
Contact name
Derralynn Hughes
Contact email
Sponsor organisation
Freeline Therapeutics Limited
Duration of Study in the UK
7 years, 3 months, 31 days
Research summary
This is a single visit study testing antibodies against different types of virus called adeno-associated virus (AAV) in people with either Fabry disease or Haemophilia B. 100 participants for each disease indication are planned to be enrolled.
Fabry disease is a genetic mutation resulting in an enzyme deficiency. This enzyme deficiency causes a buildup of fat in the body’s cells, which can cause symptoms including pain and burning in hands and feet, small dark red spots between belly button and knees, and cloudy vision, and can lead to kidney failure and a higher chance of heart attack or stroke. Treatment often includes enzyme replacement (intravenous infusions every fortnight) to help prevent the buildup.
People with Haemophilia B have very low levels of Factor IX (needed for making blood clot properly), and those with the most severe form have frequent bleeding episodes. Currently, treatment for Haemophilia B is regular (2-3 times per week) intravenous injection of Factor IX concentrates to prevent bleeding, or on-demand treatment when a bleeding episode occurs.
The modes of treatment for both diseases have associated limitations and inconveniences.
Freeline is developing a new gene therapy using a technology involving AAV to transfer the gene into the body. There are many different types of AAV that occur naturally in the environment and participants may have been infected with one or more of them over their lifetime. If they have been infected, the remaining antibodies in their body will help fight off another infection. This new gene treatment will only be successful if the treated patients do not have antibodies to the AAV that is used.
This study will involve a blood sample being taken to test for these antibodies to get a better understanding of how common the antibodies against AAV are in different parts of the world.REC name
South West - Cornwall & Plymouth Research Ethics Committee
REC reference
18/SW/0199
Date of REC Opinion
12 Oct 2018
REC opinion
Further Information Favourable Opinion