Gene Therapy with TTX-381 in CLN2 disease
Research type
Research Study
Full title
A First-in-Human, Open-Label, Dose-Escalation Study to Evaluate the Safety and Tolerability of Gene Therapy with RGX-381 for the Ocular Manifestations Associated with Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Disease
IRAS ID
1005501
Contact name
Becky Robinson-Zeigler
Contact email
Sponsor organisation
REGENXBIO Inc.
Eudract number
2021-000173-92
Clinicaltrials.gov Identifier
Research summary
This study involves children who have been diagnosed with Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) disease, also called Batten disease. In children with CLN2 disease, the protein called TPP1 is either missing or does not work properly because the gene (instructions in the DNA) for making TPP1 is not completely correct. Scientists believe vision loss in CLN2 disease is due to the lack of TPP1.
The purpose of this study is to learn whether RGX-381 (the “study drug”) is safe and can help slow vision loss in children with CLN2. It is the first time it has been used in humans.
Gene therapy is a way of treating genetic conditions, like CLN2 disease, by placing a working copy of the gene into cells that are either missing the gene or have a gene that is not working.
RGX-381 contains a healthy gene for TPP1. RGX-381 is designed to deliver the gene through an injection to the eye. This will be done in the operating room by an experienced study surgeon.
The study drug’s effects will be measured by examining and taking images (photos) of the eyes and testing samples of the child’s blood, urine, cerebrospinal fluid (CSF) (the fluid found in the brain and spinal cord), tears, and the fluid in the child’s eyes. The study staff will also watch for physical and behavioural changes before and after the child is given the study drug.
Approximately 16 children will be enrolled in 2 dose cohorts of RGX-381, with 3 participants from the Main Treatment Arm in Cohort 1, 3 participants in Cohort 2, and an expansion cohort of up to 10 participants comprised of Main, Late, and Early Stage Treatment Arms.
If the child is assigned to the Main or Late Stage Treatment Arm, they will have 10 study visits over about 1 year, visits lasting 1 to 3 days. If the child is assigned to the Early Stage Treatment Arm, they may participate in the study for longer than 1 year.
The study will take place at up to 3 centres in the UK.REC name
London - West London & GTAC Research Ethics Committee
REC reference
22/LO/0412
Date of REC Opinion
9 Aug 2022
REC opinion
Further Information Favourable Opinion