Niemann-Pick disease – European Clinical Trials Information Network https://clinicaltrials.eu Bridging Patients with Clinical Trials Sun, 14 Jun 2026 04:01:00 +0000 en-US hourly 1 https://wordpress.org/?v=7.0 https://clinicaltrials.eu/wp-content/uploads/2024/12/cropped-EU_icon-32x32.png Niemann-Pick disease – European Clinical Trials Information Network https://clinicaltrials.eu 32 32 A Study to Evaluate the Safety of Olipudase Alfa in Children and Adults with Niemann-Pick Disease Who Completed Previous Treatment Studies https://clinicaltrials.eu/trial/a-study-to-evaluate-the-safety-of-olipudase-alfa-in-children-and-adults-with-niemann-pick-disease-who-completed-previous-treatment-studies/ Wed, 29 Apr 2026 15:07:41 +0000 https://clinicaltrials.eu/trial/a-study-to-evaluate-the-safety-of-olipudase-alfa-in-children-and-adults-with-niemann-pick-disease-who-completed-previous-treatment-studies/ This study involves patients with Niemann-Pick disease, a rare inherited condition where a specific substance builds up in various organs of the body because the body lacks an enzyme needed to break it down. The treatment being studied is Xenpozyme, also known by its active ingredient name olipudase alfa or code name GZ402665, which is given as an infusion into a vein. This medication is designed to replace the missing enzyme in patients with acid sphingomyelinase deficiency, which is the underlying cause of this form of Niemann-Pick disease.

The purpose of this study is to assess safety and tolerability of the treatment in patients who have already completed previous studies with this medication in France. The study will continue until the medication receives reimbursement approval in France or for a maximum of five years, whichever happens first. Patients will receive the medication through intravenous use, meaning it will be delivered directly into the bloodstream through a vein.

During the study, participants will continue receiving regular infusions of the medication, and doctors will monitor them for any unwanted effects or health changes. The study is following patients who were already receiving this treatment in earlier research studies to gather more information about how safe the medication is when used over a longer period of time. The medication comes as a powder for concentrate for solution for infusion, which means it needs to be mixed with liquid before being given to the patient.

]]> Study on the Safety and Long-Term Effects of Efavirenz for Adults and Late-Onset Juvenile Niemann-Pick Type C Disease with Cognitive Impairment https://clinicaltrials.eu/trial/study-on-the-safety-and-long-term-effects-of-efavirenz-for-adults-and-late-onset-juvenile-niemann-pick-type-c-disease-with-cognitive-impairment/ Wed, 29 Apr 2026 14:29:23 +0000 https://clinicaltrials.eu/trial/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 clinical trial is focused on studying a rare condition known as Niemann-Pick Disease Type C, which can affect both adults and those with late-onset juvenile forms. This disease is characterized by difficulties in cognitive functions, which means it can impact memory, thinking, and understanding. The trial is testing the safety and long-term effectiveness of a medication called efavirenz, which is taken orally. Efavirenz is typically used as an antiviral medication, but in this study, it is being explored for its potential benefits in treating Niemann-Pick Disease Type C.

The purpose of the study is to evaluate how safe and effective efavirenz is when used alongside standard treatments for patients with Niemann-Pick Disease Type C who experience cognitive impairment. Participants in the study will take a daily dose of 25 mg of efavirenz. The study will monitor the number of adverse events, which are any unwanted effects that might occur, and will also look at changes in liver function and cognitive performance over a period of 52 weeks.

Throughout the study, various assessments will be conducted to track changes in the participants’ health and cognitive abilities. These assessments include tests for memory, executive functions, and verbal fluency, as well as imaging techniques like MRI to analyze brain structures. Additionally, the study will measure certain substances in the blood and cerebrospinal fluid to gather more information about the disease and the effects of the treatment. The study aims to provide valuable insights into the potential benefits of efavirenz for individuals with Niemann-Pick Disease Type C.

]]> Study on the Safety and Effectiveness of Hydroxypropylbetadex and Miglustat for Patients with Niemann-Pick Disease Type C1 https://clinicaltrials.eu/trial/study-on-the-safety-and-effectiveness-of-hydroxypropylbetadex-and-miglustat-for-patients-with-niemann-pick-disease-type-c1/ Wed, 29 Apr 2026 14:22:30 +0000 https://clinicaltrials.eu/trial/study-on-the-safety-and-effectiveness-of-hydroxypropylbetadex-and-miglustat-for-patients-with-niemann-pick-disease-type-c1/ This clinical trial is focused on studying a rare genetic disorder called Niemann-Pick Disease Type C1. This disease affects the body’s ability to transport cholesterol and other fatty substances inside cells, which can lead to a variety of symptoms, including problems with movement, speech, and swallowing. The study will evaluate the safety and effectiveness of a treatment called Trappsol Cyclo, which contains the active substance hydroxypropylbetadex. This treatment is given through an intravenous infusion, which means it is administered directly into the bloodstream. The study will compare the effects of Trappsol Cyclo combined with standard care to a placebo combined with standard care.

Participants in the study will receive either Trappsol Cyclo or a placebo, along with the usual care for Niemann-Pick Disease Type C1. The study will last for a period of up to 96 weeks, during which participants will be monitored for any changes in their symptoms. The goal is to see if Trappsol Cyclo can improve the symptoms of the disease, such as movement, speech, and swallowing abilities. The study will also look at how well participants tolerate the treatment and any side effects they may experience.

In addition to Trappsol Cyclo, the study will also involve the use of Zavesca, a medication containing miglustat, which is taken orally in the form of hard capsules. Zavesca is already used in the treatment of Niemann-Pick Disease Type C1, and the study will consider its effects when used alongside Trappsol Cyclo. Participants who are already taking Zavesca will continue their treatment, while those who are not will be monitored for any changes in their condition. The study aims to provide valuable information on the potential benefits of Trappsol Cyclo in managing Niemann-Pick Disease Type C1.

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