RecruitingRare disease

Study of N-Acetyl-L-Leucine in Patients with Ataxia-Telangiectasia: A Phase III Trial

Fast replyInvestigationalNo placebo

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What is this trial about?

A plain-language summary of the goals, design and what participants do

This study focuses on testing a medication called N-Acetyl-L-Leucine in patients with Ataxia-Telangiectasia (A-T), a rare genetic condition that affects body movements and coordination. The medication is given as an oral suspension, which means it is a liquid medicine taken by mouth.

The purpose of this research is to determine how well N-Acetyl-L-Leucine works in treating the movement problems associated with Ataxia-Telangiectasia. During the study, participants will receive either the study medication or a placebo at different times. The treatment period lasts for 12 months, and the maximum daily dose of the medication is 4 grams.

This is a special type of study called a crossover study, which means participants will switch between receiving the actual medication and placebo during different periods of the study. Neither the patients nor the doctors will know when participants are receiving the actual medication or placebo, as this helps ensure accurate results.

The research process

The trial runs in 5 steps – from screening to follow-up. Each step says what happens and what the team monitors.

Step 1
Initial evaluation
You will undergo evaluation using the Scale for the Assessment and Rating of Ataxia (SARA) to determine your eligibility for the study.
Your SARA score must be between 7 and 34 points, and you must either be able to walk within certain parameters or complete a hand coordination test within 20-150 seconds.
Your weight must be at least 15 kg to participate.
Step 2
Treatment period I
You will receive either N-Acetyl-L-Leucine oral suspension or a placebo (inactive substance).
The medication or placebo will be taken by mouth.
During this period, you must maintain any existing stable treatments that were approved for continuation during the study.
Step 3
Assessment after first period
Your condition will be evaluated using several measures:
The primary assessment will use the SARA scale to measure ataxia symptoms
Additional evaluations will include:
- A functional index test (SCAFI) to assess physical capabilities
- A rating scale (ICARS) to measure coordination
- Quality of life questionnaire appropriate for your age
- Overall improvement assessment by your doctor, caregiver (if applicable), and yourself (if able)
Step 4
Treatment period II
The treatment will switch - if you received the actual medication in the first period, you will now receive placebo, or vice versa.
The oral suspension will continue to be taken by mouth.
Your existing approved treatments will remain unchanged during this period.
Step 5
Final assessment
The same series of evaluations from step 3 will be repeated to assess your condition at the end of the second treatment period.
This will complete your participation in the study.

Who can join the trial?

10 criteria

Must be at least 4 years old with a genetically confirmed diagnosis of A-T
Must weigh at least 15 kilograms at screening
Must have a SARA score (Scale for Assessment and Rating of Ataxia) between 7 and 34 points, and either: - Be able to walk with some difficulty (scoring 2-7 on the walking test), or - Complete a hand coordination test with dominant hand in 20-150 seconds
Must be willing to maintain current medications and therapies at stable doses throughout the study
Must provide written informed consent (parents or legal guardians can provide consent for minors)
For women who can become pregnant: Must use highly effective birth control methods such as: - Intrauterine device (IUD) - Birth control pills, patches, or implants - Partner's surgical sterilization - Complete sexual abstinence
For men: Must agree to use condoms with spermicide during the study and for 90 days after the last dose
Must be willing to attend all required study visits and follow study instructions
Must be willing to disclose all current medications and therapies being used for A-T symptoms
Must have been on stable doses of current medications for at least 42 days before the study begins

Who cannot join the trial?

14 criteria

Age younger than 6 years or older than 75 years
Not having a confirmed diagnosis of Ataxia Telangiectasia (A-T)
Inability to perform required physical assessments due to severe mobility limitations
Participation in another clinical trial within the past 30 days
Known allergies or hypersensitivity to N-Acetyl-L-Leucine or similar compounds
Severe kidney or liver problems that could affect medication processing
Pregnancy or breastfeeding
Use of medications that could interfere with the study drug
Inability to follow study procedures or attend scheduled visits
Major surgery planned during the study period
Significant heart conditions or uncontrolled high blood pressure
Mental health conditions that could affect ability to provide informed consent
History of substance abuse within the past year
Any condition that, in the investigator's opinion, makes participation unsafe

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Verified sites

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Responsive
Fundacion Para La Investigacion Biomedica Del Hospital Universitario La Paz
Madrid, Spain
Verified
Justus-Liebig-Universitaet Giessen
Giessen, Germany
Verified
University Hospital Bratislava
Bratislava, Slovakia

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Investigated drugs

N-Acetyl-L-Leucine is a medication being studied for treating ataxia symptoms in patients with Ataxia-Telangiectasia (A-T). This medication aims to help improve balance, coordination, and movement control in people affected by this rare genetic condition. It works by potentially supporting the function of nerve cells that control movement and balance in the brain.

L-Acetylleucine

What is already known about the treatment

N-Acetyl-L-Leucine – An investigational drug administered orally that is being studied for the treatment of Ataxia Telangiectasia (A-T), a rare genetic disorder affecting movement and coordination. This amino acid derivative acts on the nervous system to help improve balance and reduce ataxia (loss of coordination) symptoms, though its exact molecular mechanism is still being researched through clinical trials. The medication belongs to the class of amino acid derivatives and is currently being evaluated in Phase III clinical trials to determine its effectiveness in the chronic treatment of A-T patients, with assessment based on the Scale for the Assessment and Rating of Ataxia (SARA).

Investigated diseases

Ataxia Telangiectasia
A rare inherited disorder that affects the nervous system, causing progressive difficulty with coordinating movements. The condition typically becomes apparent in early childhood when a child begins to walk. It affects various parts of the body by interfering with the brain's control of movement, causing tiny red spider-like blood vessels called telangiectasias to appear in the eyes and on the skin. Children with this condition often have increasing problems with balance, hand coordination, and speech. The condition also affects the body's immune system, making patients more susceptible to infections.
Spinocerebellar Ataxia
A group of inherited progressive disorders that affect coordination, balance, and speech. It primarily affects the cerebellum, which is the part of the brain responsible for coordination. The condition usually develops gradually, causing increasingly impaired coordination of gait, hand movements, and speech articulation. People with this condition may experience involuntary eye movements and difficulties with swallowing.