Skip to content
Clinical Trials – home

Rare diseases

Investigational molecules

Locations

Our offerNewsroom

RecruitingRare disease

Study on N-Acetyl-L-Leucine for Patients with Niemann-Pick Disease Type C

Verified siteInvestigational
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 clinical trial is focused on studying the effects of a treatment called N-Acetyl-L-Leucine on a rare genetic disorder known as Niemann-Pick disease type C (NPC). NPC is a condition that affects the body's ability to transport cholesterol and other fatty substances inside cells, leading to neurological problems. The treatment being tested is in the form of an oral suspension, which means it is a liquid medicine taken by mouth.

The purpose of the study is to evaluate how effective N-Acetyl-L-Leucine is in treating NPC. Participants in the study will be randomly assigned to receive either the treatment or a placebo, which is a substance with no active medication. The study is designed to be double-blind, meaning neither the participants nor the researchers will know who is receiving the actual treatment or the placebo. This helps ensure that the results are not biased. The study will also use a crossover design, which means that participants will switch from the treatment to the placebo, or vice versa, at a certain point during the study.

Throughout the study, participants will be monitored to assess the impact of the treatment on their condition. The main focus will be on changes in their ability to perform certain movements and tasks, as measured by a tool called the Scale for the Assessment and Rating of Ataxia (SARA). Other aspects of the participants' health and quality of life will also be evaluated. The study is expected to continue until the end of 2026.

The research process

The trial runs in 6 steps – from screening to follow-up. Each step says what happens and what the team monitors.

  1. Step 1

    Joining the study

    Upon joining the study, the patient must have a confirmed diagnosis of Niemann-Pick disease type C (NPC) and meet specific criteria, including age and weight requirements.

    The patient or their legal representative must provide written informed consent.

  2. Step 2

    Initial assessment

    The patient undergoes an initial assessment using the Scale for the Assessment and Rating of Ataxia (SARA) to evaluate their condition.

    Additional tests may include the Gait subtest and the 9-Hole Peg Test with Dominant Hand (9HPT-D).

  3. Step 3

    Treatment period I

    The patient receives N-Acetyl-L-Leucine in the form of granules for oral suspension.

    The medication is administered orally, with the dosage and frequency determined by the study protocol.

    This period is part of a randomized, placebo-controlled, double-blind, crossover study.

  4. Step 4

    Mid-study evaluation

    At the end of treatment period I, the patient's progress is evaluated using the SARA scale and other assessments such as the Spinocerebellar Ataxia Functional Index (SCAFI) and Quality of Life measures.

    The Clinical Global Impression of Improvement (CGI-I) is also assessed.

  5. Step 5

    Treatment period II

    The patient continues with the second phase of treatment, which may involve switching from the active medication to a placebo or vice versa, as per the crossover study design.

    The same administration method and monitoring continue as in the first treatment period.

  6. Step 6

    Final evaluation

    At the end of treatment period II, a final evaluation is conducted using the same scales and assessments as before.

    The results from both treatment periods are compared to determine the efficacy of N-Acetyl-L-Leucine.

Who can join the trial?

5 criteria

  • The patient or their legal representative/parent must sign a written informed consent. This means they agree to participate in the study after understanding all the details.
  • The patient must be male or female and at least 4 years old. They must have a confirmed diagnosis of **Niemann-Pick disease type C** at the time of signing the informed consent.
  • The patient must have a **SARA score** between 7 and 34 points. The SARA score is a way to measure balance and coordination problems.
  • The patient must either have a **Gait subtest** score between 2 and 7 on the SARA scale, which measures walking ability, or be able to complete the **9-Hole Peg Test with Dominant Hand** in 20 to 150 seconds. This test measures hand coordination and speed.
  • The patient must weigh at least 15 kg at the time of screening.

Who cannot join the trial?

5 criteria

  • Patients who have a medical condition other than **Niemann-Pick disease type C**.
  • Patients who are not within the specified age range for the study.
  • Patients who are not part of the specified clinical trial group.
  • Patients who are not male or female, as both genders are included in the study.
  • Patients who are considered part of a vulnerable population that is not selected for this 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 being studied for its potential benefits in treating Niemann-Pick disease type C (NPC). This medication is being evaluated to see if it can help improve symptoms related to ataxia, which is a condition that affects coordination and balance. The study aims to determine how effective this treatment is for people with NPC by using a specific scale to measure changes in their symptoms.

What is already known about the treatment

N-Acetyl-L-Leucine – This medication is administered orally and is currently being studied in clinical trials for its potential use in treating Niemann-Pick disease type C. It is in the experimental phase, with ongoing research to determine its effectiveness and safety. The main therapeutic indication is to alleviate symptoms associated with this rare genetic disorder, particularly focusing on improving motor function. At the molecular level, N-Acetyl-L-Leucine is believed to work by modulating cellular processes that are disrupted in Niemann-Pick disease type C, although the exact mechanism is still under investigation. It is classified pharmacologically as a modified amino acid derivative.

Investigated diseases

Niemann-Pick disease type C – This is a rare genetic disorder that affects the body's ability to transport cholesterol and other fatty substances inside cells. These substances accumulate in various tissues, including the brain, liver, and spleen, leading to progressive neurological and physical symptoms. The disease often begins in childhood, but symptoms can appear at any age. Common signs include difficulty with movement coordination, problems with speech, and learning difficulties. As the disease progresses, individuals may experience worsening motor skills and cognitive decline. The progression and severity of symptoms can vary widely among affected individuals.
Trial detailsLast updated 7 Oct 2026
Age18+ yearsPhasePhase IIITrial ID2023-510278-14-00Protocol codeIB1001-301Estimated enrolment120 patientsSponsorIntrabio Limited

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.