Skip to content
Clinical Trials – home

Rare diseases

Investigational molecules

Locations

Our offerNewsroom

RecruitingRare disease

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

Verified siteInvestigationalNo placebo
Clinical Trials Concierge

Prefer not to search? Our Concierge searches the trials for you.

What is this trial about?

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

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.

The research process

The trial runs in 4 steps – from screening to follow-up. Each step says what happens and what the team monitors.

  1. Step 1

    <b>treatment period one</b>

    You will receive either the test medication, which is n-acetyl-l-leucine, or a placebo, which is an inactive substance that looks like the medicine but contains no active ingredients.

    If assigned the test medication, you will take 4 grams of the oral suspension (a liquid medicine taken by mouth).

  2. Step 2

    <b>assessment of symptoms</b>

    Your ataxia, which refers to a lack of muscle control or coordination, will be measured using the scale for the assessment and rating of ataxia (sara). this is a tool used to check the severity of coordination issues.

    Other measurements include the spinocerebellar ataxia functional index (scafi) and a scale to check how much the condition affects your daily life and quality of life.

  3. Step 3

    <b>crossover period</b>

    This is a crossover study, meaning that after the first period is finished, the groups are switched.

    If you were taking the test medication during the first period, you will switch to the placebo during the second period. if you were taking the placebo, you will switch to the test medication.

  4. Step 4

    <b>treatment period two</b>

    You will complete a second period of taking the assigned substance to compare the effects of the n-acetyl-l-leucine against the placebo.

    The 4 gram dose of the oral suspension will be administered as directed during this stage.

Who can join the trial?

15 criteria

  • 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 trial?

9 criteria

  • 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.
Clinical Trials Concierge

Prefer not to search? Our Concierge searches the trials for you.

Tell us about your condition – we search every trial in Europe and connect you with the right site.

We usually reply within a few days

Verified sites

All sites with verified contact details – recruitment status may not be available; ask directly

Trial locations

Where you can join this trial

Countries are shaded by recruitment status. Click a recruiting country to ask about joining there.

Recruiting
Not finding your country?

Not sure what to do next?

Joining a clinical trial can seem overwhelming. We guide you step by step, so you know exactly what to expect and how we support you through the process.

See the full process and FAQ

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.

What is already known about the treatment

N-Acetyl-L-Leucine - This medication is taken orally in the form of a liquid suspension. It is currently being studied in advanced clinical trials to treat rare genetic conditions called CACNA1A disorders, which often cause balance and coordination issues. As an amino acid derivative, it works at a molecular level by helping to protect and stabilize nerve cells in the brain. It is classified as a nutritional or metabolic supplement used for neurological support.

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 detailsLast updated 2 Oct 2026
Age18+ yearsPhasePhase IIITrial ID2025-523828-51-00Estimated enrolment60 patientsSponsorIntraBio Inc

sourced from the EU Clinical Trials Register and site verification

Want to learn more about this trial or check if you can participate?

Clinical Trials Concierge

Prefer not to search? Our Concierge searches the trials for you.

Tell us about your condition – we search every trial in Europe and connect you with the right site.

ClinicalTrials.eu

Every clinical trial in Europe, in plain language.

Explore the full ecosystem of clinical research in Europe.

Search trials

Legal notice · Published by CTIN POLAND sp. z o.o., ul. rtm. Witolda Pileckiego 67/109, 02-781 Warsaw, Poland · KRS 0001111334 · REGON 528919042 · NIP 9512598637

© 2026 Clinical Trials EU – European Clinical Trials Information Network

GDPR compliance, ISO 9001 and ISO 27001 certified (LL-C Certification)

On this site, “treatment” means an investigational medicine being studied in a clinical trial. Its safety and efficacy for the use being studied have not yet been confirmed, some participants may receive a placebo or a comparator medicine, and taking part does not guarantee any health benefit. The decision to take part is made by the doctor at the research site. This site is for information only and does not replace medical advice.

This service is not affiliated with the European Commission, the EMA, or the official CTIS system. Most information comes from publicly available international clinical-trial registries, supplemented by data from academic sites, national regulators and commercial sponsors. On this site, “treatment” and “therapy” mean a medicine being tested in a clinical trial. Its safety and effectiveness in the use being studied are not yet confirmed, some participants may receive a placebo or a comparator, and taking part does not guarantee a health benefit. The doctor at the research site decides who can take part. This site provides information, not medical advice. Certain content and visual elements on this website have been generated or enhanced using artificial intelligence (AI).