Ongoing Clinical Trials for Niemann-Pick Disease
Currently, there are 3 ongoing clinical trials investigating new treatments for Niemann-Pick disease, specifically focusing on Type C variants. These trials are testing different investigational drugs including N-Acetyl-L-Leucine, hydroxypropylbetadex (Trappsol Cyclo), and efavirenz, and are being conducted across multiple European countries including Germany, Spain, Italy, Poland, Netherlands, Slovakia, and Czechia.
Clinical trial locations
- Czechia
- Germany
- Italy
- Netherlands
- Poland
- Slovakia
- Spain
Study on N-Acetyl-L-Leucine for Patients with Niemann-Pick Disease Type C
This trial is investigating N-Acetyl-L-Leucine, an oral medication taken as a liquid suspension, for treating Type C. The study focuses on evaluating how effectively this treatment can improve coordination and balance problems, which are common symptoms of the condition.
Who can join: Participants must be at least 4 years old and weigh at least 15 kilograms. They need to have a confirmed diagnosis of Type C and demonstrate specific levels of coordination difficulties, measured using the Scale for the Assessment and Rating of Ataxia. Specifically, their SARA score should be between 7 and 34 points, and they must either have walking difficulties with a score between 2 and 7, or be able to complete a hand coordination test within 20 to 150 seconds.
Who cannot join: People with medical conditions other than Type C are excluded. The study requires participants to fall within the specified age and weight requirements and be able to provide informed consent or have a legal representative who can do so on their behalf.
Study design: This is a double-blind, crossover study, meaning neither participants nor researchers will know who receives the active medication or placebo at different stages. Participants will switch between the treatment and placebo during the study period. The main focus is measuring changes in movement ability using the SARA scale, along with assessments of hand coordination, quality of life, and overall clinical improvement. The study is expected to continue until late 2026.
Investigational drug: N-Acetyl-L-Leucine is a modified amino acid derivative being tested for its ability to improve symptoms related to poor coordination and balance. While the exact way it works is still being studied, researchers believe it may help restore cellular processes that are disrupted in Type C.
Study on the Safety and Effectiveness of Hydroxypropylbetadex and Miglustat for Patients with Niemann-Pick Disease Type C1
This trial is evaluating Trappsol Cyclo, which contains hydroxypropylbetadex, administered through intravenous infusion directly into the bloodstream. The study compares this treatment combined with standard care against a placebo combined with standard care over a period of up to 96 weeks.
Who can join: Participants must be at least 3 years old and weigh between 4.5 and 125 kilograms. They need a confirmed diagnosis of Type C1 through genetic testing and must have a specific severity score between 0.5 and 2.0. At least one neurological symptom must be present, such as hearing loss, difficulty with eye movement, balance problems, memory issues, muscle stiffness, seizures, sudden muscle weakness, speech difficulties, or trouble swallowing. If participants are taking miglustat, the dose must be stable for at least 3 months. Those who have previously received hydroxypropyl-β-cyclodextrin treatment can join if their last treatment was at least 3 to 6 months ago. Participants must be able to travel to the study site and follow all study procedures.
Who cannot join: People without a confirmed diagnosis of Type C1 or those unable to follow study procedures or provide informed consent are excluded.
Study design: After initial assessments establishing baseline health status, participants are randomly assigned to receive either Trappsol Cyclo at a dose of 2000 mg/kg through intravenous infusion or a placebo, both alongside standard care. Regular follow-up visits throughout the study monitor health changes using specific severity scales that evaluate improvements in walking ability, fine motor skills, speech, and swallowing. The study also continues monitoring those already taking miglustat as part of standard care.
Investigational drug: Trappsol Cyclo belongs to a class of compounds called cyclodextrins. It works by helping remove cholesterol and other fatty substances that accumulate in cells of people with Type C1, addressing one of the fundamental problems caused by the disease.
Study on the Safety and Long-Term Effects of Efavirenz for Adults and Late-Onset Juvenile Niemann-Pick Type C Disease with Cognitive Impairment
This trial is testing efavirenz, an oral medication typically used as an antiviral treatment, for its potential benefits in treating Type C in adults and those with late-onset juvenile forms who experience cognitive impairment affecting memory, thinking, and understanding.
Who can join: Participants must be over 18 years old and have a confirmed diagnosis of Type C with cognitive impairment. They must have previously participated in a specific earlier study on this condition. Written informed consent is required from all participants.
Who cannot join: People without a diagnosis of Type C, those without cognitive impairment, and those who cannot take the study medication are excluded. The study is specifically designed for adults or those with late-onset juvenile forms receiving standard treatment.
Study design: Participants take a daily oral dose of 25 mg of efavirenz in addition to their standard treatment. Over 52 weeks, the study monitors the number of adverse events, changes in liver function, and cognitive performance. Various assessments track changes in memory, executive functions, verbal fluency, and brain structure through MRI imaging. The study also measures specific substances in blood and cerebrospinal fluid to gather information about the disease and treatment effects.
Investigational drug: Efavirenz is traditionally an antiretroviral medication that works by inhibiting an enzyme crucial for viral replication. In this study, it is being explored for potential benefits beyond its traditional use, specifically for improving neurological symptoms associated with Type C.
Summary
These three ongoing clinical trials represent important research efforts to find effective treatments for Niemann-Pick disease Type C, a rare genetic disorder affecting the body’s ability to transport cholesterol and fatty substances within cells. The trials are testing three distinct approaches: N-Acetyl-L-Leucine focusing on coordination and balance, Trappsol Cyclo aiming to remove accumulated substances from cells, and efavirenz targeting cognitive symptoms.
Geographically, the research is concentrated in Western and Central Europe, with Germany and Spain participating in multiple trials. This European focus reflects the region’s active research infrastructure for rare diseases. Each trial targets different aspects of the condition, with two trials open to children as young as 3-4 years old, while one specifically focuses on adults and late-onset cases with cognitive impairment.
The diversity of investigational drugs and treatment approaches offers hope that multiple therapeutic options may eventually become available for different patient populations and symptom profiles. Participants and families interested in these trials should discuss eligibility and potential benefits with their healthcare providers.
