#1 Clinical Trials Search in Europe

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

1 1

What is this study about?

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.

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.

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.

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)

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.

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 Study?

  • 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 Study?

  • 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

Where you can join this trial?

Verified and Recommended Sites

No sites found in this category

Verified Sites

No sites found in this category

Other Sites

Site Name City Country Status
Univerzitna nemocnica L. Pasteura Kosice Kosice Slovakia
Justus-Liebig-Universitaet Giessen Giessen Germany
University Hospital Bratislava Bratislava Slovakia
Fupfamjso Pefn Ll Ihlxzqltxwxfq Byvqalnls Dzf Hirogtpn Ulpnvzozjdltn Lj Pjp Madrid Spain
Umfebkjjlx Huyshrah Ctsfxrw Cologne Germany

Want to learn more about this study or check if you can participate? Contact us.

Trial status

Country Status Recruitment Start
Germany Germany
Recruiting
03.02.2025
Slovakia Slovakia
Recruiting
03.02.2025
Spain Spain
Recruiting
03.02.2025

Trial locations

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.

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.

Trial ID:
2024-517706-29-00
Protocol code:
IB1001-303
NCT ID:
NCT06673056
Trial Phase:
Therapeutic confirmatory (Phase III)

Other Trials to Consider

  • Study on the Effects of EryDex (Dexamethasone Sodium Phosphate) for Children Aged 6-9 with Ataxia Telangiectasia

    Not recruiting

    1 1
    Investigated diseases:
    Investigated drugs:
    Belgium Denmark Germany Italy Norway Poland +1

  • Study on the Safety and Effects of EryDex with Dexamethasone Sodium Phosphate for Patients with Ataxia Telangiectasia

    Not recruiting

    1 1 1
    Investigated diseases:
    Investigated drugs:
    Denmark Germany Italy Norway Poland Spain