A Phase 1-2, Double-Blind, MAD Study of ION440 in MDS
Research type
Research Study
Full title
A Phase 1-2, Double-Blind, Sham-Controlled Multiple Ascending Dose Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Intrathecally-Administered ION440 in Patients with MECP2 Duplication Syndrome
IRAS ID
1009486
Contact name
Mehul Tank
Contact email
Sponsor organisation
Ionis Pharmaceuticals Inc
Clinicaltrials.gov Identifier
Research summary
The primary aim of this study is to investigate how safe and well-tolerated ION440 is for the treatment of Methyl CpG Binding Protein 2 (MeCP2) duplication syndrome (also known as MDS) in male children and adults aged 2-65 years.
MDS is a rare genetic disorder affecting neurological development. It almost exclusively affects males, and symptoms include severe developmental delay, intellectual disability, seizures, recurrent respiratory infections, weak muscles and other health issues. MDS has a low survival rate, and there is no cure, and no specific treatment other than management of individual symptoms, highlighting an unmet need for treatments targeted against the disorder.
This study, funded by Ionis Pharmaceuticals Inc., is a phase 1-2, randomised, double-blind, sham-controlled, multiple-ascending dose (MAD) study and will be conducted in 2 parts. In part 1 (MAD), participants will be randomised to receive study drug (ION440) or a sham in a 3:1 ratio. A sham is where the procedure for administering the study drug is carried out, but no study drug is given. Part 1 of the study lasts for 36 weeks and includes a screening period, treatment period and follow-up period. In part 1, participants may also take part in 2 optional sub-studies: a video motor assessment and a genetic sub-study.
Following completion of part 1 of the study, participants may enter part 2, which is an open label extension study (LTE) where they will receive the study drug for up to approximately 156 weeks.
There are multiple dosing cohorts (Dose A, Dose B and Dose C) in the study which are subdivided by age (2-7 years, or 8 years and older).
The study is being run in many countries, including 1 study site in the UK .REC name
London - Hampstead Research Ethics Committee
REC reference
24/LO/0712
Date of REC Opinion
7 Feb 2025
REC opinion
Further Information Favourable Opinion