Ongoing Clinical Trials for Ataxia Telangiectasia
There are currently 3 clinical trials investigating new treatments for Ataxia Telangiectasia, a rare genetic disorder affecting movement and coordination. These trials are testing two different investigational drugs – N-Acetyl-L-Leucine and EryDex – across multiple European countries including Germany, Spain, Italy, Poland, Norway, Denmark, Belgium, and Slovakia.
Clinical trial locations
- Belgium
- Denmark
- Germany
- Study on the Effects of EryDex (Dexamethasone Sodium Phosphate) for Children Aged 6-9 with Ataxia Telangiectasia
- Study of N-Acetyl-L-Leucine in Patients with Ataxia-Telangiectasia: A Phase III Trial
- Study on the Safety and Effects of EryDex with Dexamethasone Sodium Phosphate for Patients with Ataxia Telangiectasia
- Italy
- Norway
- Poland
- Slovakia
- Spain
- Study on the Effects of EryDex (Dexamethasone Sodium Phosphate) for Children Aged 6-9 with Ataxia Telangiectasia
- Study of N-Acetyl-L-Leucine in Patients with Ataxia-Telangiectasia: A Phase III Trial
- Study on the Safety and Effects of EryDex with Dexamethasone Sodium Phosphate for Patients with Ataxia Telangiectasia
Study of N-Acetyl-L-Leucine in Patients with Ataxia-Telangiectasia: A Phase III Trial
This Phase III trial is testing N-Acetyl-L-Leucine, an oral liquid medication that aims to improve balance, coordination, and movement control in people with Ataxia-Telangiectasia. The medication is thought to support nerve cells in the brain that control movement and balance.
Who can participate: Participants must be at least 4 years old with a genetically confirmed diagnosis and weigh at least 15 kilograms. They need to have a SARA score (a measurement of coordination problems) between 7 and 34 points and be able to either walk with some difficulty or complete a hand coordination test within a specific timeframe. Current medications must be kept at stable doses throughout the study. Women who can become pregnant must use effective birth control methods such as an IUD, birth control pills, or partner sterilization. Men must use condoms with spermicide during the study and for 90 days after.
Who cannot participate: People younger than 6 or older than 75 years cannot join. Those with severe mobility limitations that prevent required physical assessments, severe kidney or liver problems, known allergies to the study medication, or those who are pregnant or breastfeeding are excluded. Participants cannot have taken part in another clinical trial within the past 30 days or have major surgery planned during the study period.
What happens during the study: This is a crossover study lasting 12 months, where participants will switch between receiving the actual medication and a placebo at different periods. Neither the patients nor doctors will know when the actual medication is being given, which helps ensure accurate results. The maximum daily dose is 4 grams. Participants will be evaluated using various scales to measure coordination, physical capabilities, quality of life, and overall improvement as assessed by doctors, caregivers, and the participants themselves.
Study on the Safety and Effects of EryDex with Dexamethasone Sodium Phosphate for Patients with Ataxia Telangiectasia
This trial is studying EryDex, a unique treatment that involves encapsulating dexamethasone sodium phosphate (a steroid medication) into the patient’s own red blood cells, which are then infused back into the body. The goal is to deliver the medication slowly over time to help manage symptoms.
Who can participate: This study is specifically for patients who have previously completed another study called IEDAT-04-2022, including all final assessments, and have no safety concerns that would prevent continuing treatment. Participants must weigh at least 15 kilograms. The study is open to both males and females and includes vulnerable populations who may need special protection or care.
Who cannot participate: People without a confirmed diagnosis, those outside the specified age range, those unable to follow study procedures or attend required visits, and those with other medical conditions or taking medications that might interfere with the study cannot participate. Pregnant or breastfeeding women, those who have participated in another recent clinical trial, and those with a history of allergic reactions to the study medication are also excluded.
What happens during the study: The treatment is delivered through an intravenous infusion directly into the bloodstream. Throughout the study, participants will undergo regular monitoring to check for side effects or adverse events. This includes assessments of vital signs like blood pressure and heart rate, laboratory tests, and physical and neurological examinations. Mental well-being is also monitored using the Columbia Suicide Severity Rating Scale. The study is expected to continue until October 31, 2026, allowing researchers to gather comprehensive long-term data on the treatment’s safety and effectiveness.
Study on the Effects of EryDex (Dexamethasone Sodium Phosphate) for Children Aged 6-9 with Ataxia Telangiectasia
This double-blind, placebo-controlled trial is specifically designed for children aged 6 to 9 years to evaluate whether EryDex can provide meaningful improvements in neurological symptoms and quality of life. The study involves delivering dexamethasone encapsulated in red blood cells to help reduce inflammation and improve neurological function.
Who can participate: Children must be at least 6 years old and weigh at least 15 kilograms. They need a confirmed diagnosis with specific neurological signs like trouble coordinating head and eye movements or difficulty walking. A genetic test confirming the diagnosis is required. The child should be able to walk on their own or with occasional help, as measured by the ICARS score. Written consent must be provided by the parent, caregiver, or legal representative, and the child should agree to participate as much as they are able.
Who cannot participate: Children outside the age range of 6 to 9 years cannot participate. Those unable to follow study procedures or attend all required visits, those with other medical conditions or taking medications that might affect results, and those who have participated in another recent clinical trial are excluded. Children who are pregnant, breastfeeding, or have a history of allergic reactions to the study medication also cannot join.
What happens during the study: After confirming eligibility and establishing a baseline for neurological symptoms using the RmICARS score (which evaluates coordination and movement), participants will receive the medication through intravenous infusion at specific intervals. Participants will be randomly assigned to receive either EryDex or a placebo, with neither the participants nor researchers knowing who receives which treatment. Regular assessments will monitor changes in symptoms, with the primary evaluation occurring at Day 168 of the study. The study uses CGI-S and CGI-C scales to evaluate the overall clinical effect compared to placebo. The trial is estimated to end by July 31, 2025, with recruitment having started on April 30, 2024.
Summary
These three clinical trials represent important research efforts to find effective treatments for Ataxia Telangiectasia, a rare genetic disorder that currently has limited treatment options. The studies are testing two different approaches: N-Acetyl-L-Leucine, which is taken as an oral liquid, and EryDex, which involves delivering medication through specially treated red blood cells.
Germany and Spain are participating in all three trials, indicating these countries have established research centers for this rare condition. The trials span a total of eight European countries, providing broader access to these investigational treatments. Two of the trials focus specifically on the EryDex treatment, with one targeting children aged 6 to 9 years and another serving as a continuation study for patients who completed previous research. The N-Acetyl-L-Leucine trial uses a crossover design where participants receive both the medication and placebo at different times, while the EryDex trials compare the treatment directly against placebo.
All trials require genetic confirmation of the diagnosis and use standardized scales to measure improvements in coordination and movement. The studies are designed to gather comprehensive safety data while evaluating whether these treatments can meaningfully improve the quality of life for people living with this challenging condition.
