Recipient organisationNIHR Wellcome Trust Cambridge Clinical Research Facility
NIHR supportRecorded as supported by this research centre
PeriodMar 2025 — Ongoing
In plain English
AI plain-English summary
Children with a rare, fatal genetic disease that destroys coordination and immunity are about to receive an experimental drug in a final-stage clinical trial across six countries, including the UK. Ataxia-telangiectasia (A-T) progressively damages the cerebellum—the brain region controlling movement—and cripples the immune system. Most children lose the ability to walk by age ten and die in their teens or twenties. No approved treatment exists. This Phase III trial tests N-Acetyl-L-Leucine, a modified amino acid that earlier Phase II studies suggest can rapidly improve neurological symptoms, daily functioning, and quality of life in both children and adults with A-T. The drug has already shown a favourable safety profile, with no drug-related serious adverse events. If the trial confirms efficacy, N-Acetyl-L-Leucine could become the first therapy for A-T, offering families a treatment that slows neurological decline and extends independent movement. The same drug is also being tested for Niemann-Pick Type C, another untreatable neurodegenerative disease, so success here could accelerate development for multiple rare conditions. The trial runs at approximately nine sites, including NHS hospitals in the UK, with a 56-day screening period followed by 168 days of treatment.
View original technical description
There are currently no available treatments for Ataxia-Telangiectasia (A-T). Therefore, there is a need for the development of novel and more effective therapies to treat these intractable diseases. N-Acetyl-L- Leucine (study drug) has been studied in Phase II trials, in patients with A-T and Niemann-Pick Type C disease (NPC), as well as in a Phase III study in patients with NPC. The study design for this Phase III study (in A-T) is the same as the IB1001-301 study (in NPC).The goal of this study is to demonstrate that N-Acetyl-L-Leucine is efficacious in improving symptoms, functioning, and quality of life in patients with A-T. Phase II and III clinical trials have demonstrated rapidly improved neurological signs and symptoms, functioning, and quality of life following treatment with N-Acetyl-L- Leucine (IB1001) in paediatric and adult patients, with A-T and NPC. N-Acetyl-L-Leucine was observed to be safe and well-tolerated, with no drug-related serious adverse events, establishing a very favourable risk- benefit profile for IB1001.Based on these findings, IntraBio is conducting a Phase III, placebo-controlled, double-blind, randomized, crossover study investigating the efficacy and safety of N-Acetyl-L-Leucine for the treatment of A-T. Patients will only be included in the study if they meet the inclusion and exclusion criteria described in the study protocol approved by the relevant ethics committees and the regulatory authorities and informed consent is obtained. To further minimize risks, patients will be monitored closely throughout the study. The study will occur in approximately 9 sites in Germany, Slovakia, Spain, Switzerland, the United Kingdom and the United States. The sites in the UK will be NHS sites. There will be a screening period of up to 56 days. This will be followed by the treatment period, which is expected to be approximately 168 days (from the first day of dosing [Visit 2] to the final day of dosing [at the end of Period 2/Visit 6]).
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