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A study to evaluate the effects of N-Acetyl-L-Leucine in patients with CACNA1A disorders

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What is this study about?

This study focuses on individuals living with CACNA1A Disorders, which are rare genetic conditions that affect how certain parts of the body function. One common symptom of these disorders is ataxia, a condition that causes problems with muscle coordination, balance, and walking. The purpose of this study is to evaluate the effectiveness of N-Acetyl-L-Leucine for the long-term treatment of this condition.

Participants in this research will receive either the active treatment, N-Acetyl-L-Leucine, or a placebo. The study uses a crossover design, which means that participants will switch between receiving the actual medication and the placebo at different points during the trial. This approach allows for a comparison of how the body responds to the treatment versus the inactive substance over time.

Who Can Join the Study?

  • The patient or their legal guardian must provide written informed consent, which is a signed document showing they understand and agree to take part in the study.
  • The patient must understand the details of the study and agree to follow all instructions and attend all scheduled visits.
  • The patient must be male or female aged 4 years or older.
  • The patient must have a genetically confirmed diagnosis of a CACNA1A disorder, which means a medical test has proven they have a specific genetic condition affecting their body.
  • Females who are still able to become pregnant must either avoid sexual activity for a specific period or use highly effective contraception, which is a method used to prevent pregnancy.
  • Females who cannot become pregnant must have had a permanent procedure to prevent pregnancy, such as a hysterectomy (removal of the uterus) or salpingectomy (removal of the fallopian tubes), at least 6 months before the study begins, or be in postmenopause (the stage of life after a woman’s menstrual periods have permanently stopped).
  • Males who have not had a vasectomy (a procedure to prevent pregnancy) must agree to use a condom with spermicide (a substance that kills sperm) until 90 days after the last dose of the study medicine.
  • Males who have had a vasectomy must use a condom during sexual intercourse.
  • Males must agree not to donate sperm from the first dose until 90 days after the last dose of the study medicine.
  • The patient must show specific levels of ataxia, which refers to a lack of muscle control or coordination during voluntary movements, measured by a tool called the SARA scale.
  • The patient must have a SARA score (a rating of movement coordination) between 7 and 34 points.
  • The patient must either have a specific score on the Gait subtest (a test of how a person walks) or be able to complete the 9-Hole Peg Test, which measures how quickly a person can place pegs into holes, within a specific time range.
  • The patient must weigh at least 15 kg.
  • The patient must be willing to list all current medications or treatments they are using for their condition.
  • If the patient is using treatments that are not forbidden, they must have used the same amount for at least 42 days and agree not to change the dose or type of treatment during the study.

Who Cannot Join the Study?

  • You cannot participate if you have a known hypersensitivity, which is an extreme allergic reaction, to Acetyl-Leucine or any of the excipients, which are the inactive ingredients used to make the medicine (such as isomalt, hypromellose, strawberry flavor, citric acid, microcrystalline cellulose, lactose, or denatonium benzoate).
  • You cannot participate if you are currently in another clinical study or if you have taken an investigational medicinal product, which is an experimental study drug, within the last 42 days.
  • Depending on the doctor’s decision, you may be excluded if you have a physical, mental, or psychiatric (mental health) condition that could put you at risk, make the study results unclear, or make it difficult for you to complete the study tasks.
  • You cannot participate if there is a known or ongoing problem with the use, misuse, or dependency (addiction) of medications, drugs, or alcohol.
  • Women who are currently pregnant or planning to become pregnant, or those who are breastfeeding, cannot join the study.
  • You may be excluded if you have severe vision or hearing loss that cannot be fixed with glasses or hearing aids and prevents you from completing study tests.
  • You cannot participate if you have arthritis (inflammation of the joints) or other musculoskeletal disorders, which are problems involving the muscles, bones, joints, or ligaments, that affect how you move and interfere with the study.
  • If you are at a study site outside of the European Union, you cannot participate if you are unable or unwilling to stop taking certain prohibited medicines, such as N-Acetyl-DL-Leucine or N-Acetyl-L-Leucine, for at least 42 days before the first visit and for the duration of the study.
  • If you are at a study site within the European Union, you cannot participate if you have taken prohibited medicines like N-Acetyl-DL-Leucine or N-Acetyl-L-Leucine within 42 days before the first visit and cannot remain without them through the end of the study.

Where you can join this trial?

Verified and Recommended Sites

No sites found in this category

Verified Sites

Site Name City Country Status
Medizinische Universitaet Innsbruck Innsbruck Austria

Other Sites

Site Name City Country Status
Justus-Liebig-Universitaet Giessen Giessen Germany
Ospedale Pediatrico Bambino Gesu’ Rome Italy
ASST FBF-Sacco Ospedale dei Bambini “V.Buzzi” Milan Italy
University General Hospital Attikon General Hospital Of West Attica H Agia Varvara Chaidari Greece
Uyiwmnjafr Hgovihff Copttjf Cologne Germany

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

Trial status

Country Status Recruitment Start
Austria Austria
Not yet recruiting
01.08.2026
Germany Germany
Not yet recruiting
01.08.2026
Greece Greece
Not yet recruiting
01.08.2026
Italy Italy
Not yet recruiting
01.08.2026

Trial locations

Investigated drugs:

N-Acetyl-L-Leucine is an oral liquid suspension being studied to see if it can help manage symptoms in people with CACNA1A disorders, specifically focusing on its effect on coordination and balance.

Investigated diseases:

CACNA1A disorders – These are a group of rare genetic conditions caused by mutations in a specific gene that controls how calcium moves into brain cells. These disorders primarily affect the cerebellum, which is the part of the brain responsible for coordinating movement. As the condition progresses, individuals often experience increasing difficulty with balance and coordination. This can lead to a shaky gait or unsteady walking patterns. Muscle control and fine motor tasks may also become more challenging over time.

Trial ID:
2025-523828-51-00
NCT ID:
NCT07221292
Trial Phase:
Therapeutic confirmatory (Phase III)

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