Not recruitingRare disease

Trial of Ataluren for Severe Common Variable Immunodeficiency with Autoimmunity in Patients with LRBA Deficiency

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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 genetic disorder called LRBA deficiency. This condition affects the immune system and is caused by specific genetic mutations. People with this disorder often have too many immune cells, known as lymphocytes, which can lead to various symptoms such as chronic diarrhea, low levels of antibodies, and frequent infections. The disease can also increase the risk of developing lymphoma, a type of cancer. The trial will use a treatment called Ataluren, also known by its code name PTC-124, which is taken as an oral suspension.

The purpose of the study is to evaluate how effective Ataluren is in reducing the symptoms associated with LRBA deficiency, such as lymphocyte overgrowth and chronic diarrhea, and to assess how well the patient tolerates the treatment. The study will involve a single patient with this condition, and the treatment will be administered over a period of time to observe any improvements in symptoms and overall quality of life.

Throughout the study, the patient's health will be monitored to see if there are improvements in their quality of life, weight, and frequency of diarrhea episodes, as well as a reduction in hospital visits. Additionally, the study will look at specific markers in the blood to see if there are changes in the expression of certain proteins related to the immune system. The trial aims to provide valuable insights into the potential benefits of Ataluren for individuals with LRBA deficiency.

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 trial
The trial is designed for a single patient with a specific genetic condition known as LRBA deficiency. This condition affects the immune system and can lead to various symptoms, including an excess of immune cells called lymphocytes, chronic diarrhea, and other complications.
Step 2
Medication administration
The medication used in this trial is called Ataluren. It is provided in the form of granules for oral suspension, available in two dosages: 1000 mg and 250 mg.
The medication is taken orally. The specific dosage and frequency will be determined by the healthcare provider based on individual needs and response to treatment.
Step 3
Monitoring and evaluation
The main objective of the trial is to assess the clinical efficacy of Ataluren in reducing symptoms associated with LRBA deficiency, such as lymphoproliferation and chronic diarrhea.
The trial also aims to evaluate the tolerability of Ataluren in the patient.
Step 4
Assessment of outcomes
Primary outcomes include improvements in quality of life, weight, frequency of diarrhea episodes, and the number of hospitalizations compared to a five-year period before treatment.
Secondary outcomes involve the expression of specific proteins and cells related to the immune system, such as LRBA and CTLA4, as well as the normalization of certain immune cell levels.
Step 5
Trial duration
The trial is expected to continue until August 1, 2027. The duration allows for comprehensive monitoring and assessment of the treatment's effects over time.

Who can join the trial?

4 criteria

The patient must have LRBA deficiency. This is a rare genetic disorder affecting the immune system, caused by changes in the LRBA gene.
The patient must have homozygous nonsense mutations. This means that both copies of a specific gene have changes that stop the gene from working properly.
The patient must be a male.
The patient must be at least 3 years old.

Who cannot join the trial?

4 criteria

Individuals who do not have a confirmed diagnosis of LRBA deficiency. This is a rare genetic disorder affecting the immune system.
Individuals who are not male. The study is only open to male participants.
Individuals who are under the age of 3. The study is only open to those who are 3 years old or older.
Individuals who are part of a vulnerable population. This means people who might need special protection or care.

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Verified
Centre hospitalier universitaire de Liege
Liege, Belgium

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Investigated drugs

Ataluren is a medication being studied for its potential to help patients with a specific genetic condition called LRBA deficiency. This condition can cause problems with the immune system, leading to symptoms like excessive growth of lymph tissue, chronic diarrhea, and fluid buildup in the abdomen. The trial aims to see if Ataluren can reduce these symptoms and to check if the medication is safe and well-tolerated by the patient.

Ataluren

What is already known about the treatment

Ataluren – Ataluren is administered orally in the form of tablets. It is currently being studied in clinical trials for its potential use in treating LRBA deficiency, a rare genetic disorder affecting the immune system. The main therapeutic indication for Ataluren in this context is to address symptoms such as excessive lymphocyte proliferation, chronic diarrhea, and ascites associated with LRBA deficiency. At the molecular level, Ataluren works by enabling the ribosome to read through premature stop codons in the mRNA, allowing for the production of full-length, functional proteins. It is classified pharmacologically as a protein synthesis modulator.

Investigated diseases

LRBA Deficiency – LRBA deficiency is a rare genetic disorder affecting the immune system, caused by mutations in the LRBA gene. This condition leads to an excessive number of immune cells called lymphocytes, resulting in autoimmunity, low levels of antibodies, and recurrent infections. The overproduction of lymphocytes can cause various symptoms, with infiltration commonly occurring in the gut, lungs, and brain. Individuals with LRBA deficiency may experience chronic diarrhea and other gastrointestinal issues. The disease is also associated with an increased risk of developing lymphoma, a type of cancer.