Investigation of individualised ASOs in people with unique, severe genetic CNS conditions
Research type
Research Study
Full title
Investigation of individualised antisense oligonucleotides (ASOs) in people with unique genetic variants causing severely debilitating, life threatening (SDLT) central nervous system (CNS) conditions
IRAS ID
1012261
Contact name
Deb Gouveia
Contact email
Sponsor organisation
EveryONE Medicines, Inc.
Research summary
This study is testing new medicines, called antisense oligonucleotides (ASOs), for people aged one year and older who have very rare genetic conditions. These conditions are caused by unique changes in a person’s DNA that affect how proteins are made and work. When proteins don’t function normally, it can cause serious problems with the brain and nervous system.
An ASO is a short piece of genetic material that can help adjust how proteins are made. Each ASO will be specially created for the individual condition of a participant. The same ASO may be used in up to three people. Altogether, about 10 people will join this study.
The study will look at how safe the ASO is and whether there are any side effects. It will also measure how much of the ASO is found in the blood and in the fluid around the brain and spinal cord, called cerebrospinal fluid or CSF. In addition, the study will examine how repeated treatments affect signs of the disease, movement, and overall quality of life.
The study will last at least 60 weeks and will have four parts: screening, a pre-treatment “run-in” period, treatment, and a follow-up period to check safety. The run-in period will last at least 4 weeks. During this time, information will be collected to use as a baseline for later comparisons.
During the treatment period, each participant will receive five doses of their ASO, given directly into the CSF through a hospital procedure. The treatments will be spaced 4 to 16 weeks apart. For the first three treatments, participants will stay in the hospital for at least 24 hours. After each treatment, participants will be monitored closely, have tests done, and the next treatment will be planned. The treatment period will last up to 48 weeks.
At least 28 days after the last treatment, participants will return for a follow-up visit to check safety. At the end of the study, patients may be given the option to continue receiving treatment.REC name
Yorkshire & The Humber - Leeds West Research Ethics Committee
REC reference
25/YH/0153
Date of REC Opinion
3 Oct 2025
REC opinion
Further Information Favourable Opinion