Not recruitingRare 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

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What is this trial about?

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

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.

The research process

The trial runs in 5 steps – from screening to follow-up. Each step says what happens and what the team monitors.

Step 1
Joining the study
Participation begins after signing a written informed consent. This confirms understanding and agreement to participate in the study.
Eligibility requires previous participation in the Niemann-Pick trial (EudraCT: 2019-004498-18) and being over 18 years of age.
Step 2
Medication administration
The medication used in this study is efavirenz (EFV).
The dosage is 25 mg per day, taken orally.
This medication is administered in addition to the standard treatment for Niemann-Pick disease.
Step 3
Monitoring and assessments
The primary focus is on the number of adverse events, changes in liver function, and cognitive performance over 52 weeks.
Cognitive performance is assessed using various tests, including CDR-SoB, FCSRT, and executive function tests.
Step 4
Secondary assessments
Secondary assessments include changes in scores such as SARA, EAT-10, and PDS at 52 weeks.
Additional evaluations involve brain scans, oculography, and plasma level measurements.
Step 5
Study duration
The study is expected to conclude by January 30, 2025.
Recruitment for the study is estimated to start on January 30, 2024.

Who can join the trial?

6 criteria

Patients must be over 18 years old.
Patients must have been part of a previous study on Niemann-Pick disease.
Patients must be diagnosed with **Type C Niemann-Pick Disease**. This is a rare genetic disorder that affects the body's ability to transport cholesterol and other fatty substances inside cells.
Patients must have **cognitive impairment**, which means they have difficulties with thinking, memory, or learning.
Patients must agree to participate by signing a written consent form.
Both male and female patients are eligible to participate.

Who cannot join the trial?

6 criteria

Patients who do not have a diagnosis of **Type C Niemann-Pick Disease**. This is a rare genetic disorder that affects the body's ability to transport cholesterol and other fatty substances inside cells.
Patients who do not have **cognitive impairment**. This means having difficulties with thinking, memory, or learning new things.
Patients who are not within the specified age range for the study. The study is for adults or those with late-onset juvenile Type C Niemann-Pick Disease.
Patients who are not receiving the standard treatment for Type C Niemann-Pick Disease.
Patients who are not able to take the study medication, **efavirenz (EFV)**, which is given as a 25 mg oral dose.
Patients who are part of a vulnerable population, which means they might need special protection or care.

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Verified sites

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Verified
Bellvitge University Hospital
L'hospitalet De Llobregat, Spain

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Investigated drugs

Efavirenz is a medication being studied for its safety and long-term effectiveness in patients with adult or late-onset juvenile type C Niemann-Pick disease who have cognitive impairment. It is taken orally and is being evaluated to see how well it works in addition to the standard treatment these patients are already receiving.

Aprepitant

What is already known about the treatment

Efavirenz – This medication is administered orally and is currently being studied for its safety and long-term effectiveness in treating adult or late-onset juvenile Type C Niemann-Pick Disease, particularly in patients with cognitive impairment. Efavirenz is well-documented in medical literature as an antiretroviral drug primarily used in the treatment of HIV. Its mechanism of action involves inhibiting the reverse transcriptase enzyme, which is crucial for viral replication. In this context, it is being explored for its potential benefits beyond its traditional use, aiming to improve neurological symptoms associated with Niemann-Pick Disease.

Investigated diseases

Type C Niemann-Pick Disease – This is a rare genetic disorder that affects the body's ability to metabolize cholesterol and other lipids properly within cells. These lipids accumulate in various tissues, including the brain, liver, and spleen, leading to progressive neurological and visceral symptoms. The disease often presents in childhood or adolescence, but adult-onset cases can occur. Symptoms may include difficulty with movement, cognitive decline, and problems with speech and swallowing. Over time, the accumulation of lipids can lead to more severe neurological impairments. The progression of symptoms varies widely among individuals, making the disease challenging to predict.