#1 Clinical Trials Search in Europe

Ataluren

Clinical trials are investigating Ataluren in a rare immune system disorder called LRBA deficiency. These studies look at whether Ataluren can improve symptoms, quality of life, and hospital use in affected patients. The trial data here includes a single-patient Phase 2 study.

Table of Contents

Trial overview

The provided trial studied Ataluren in one patient with a rare immune disorder linked to LRBA gene mutations.[1] It was an interventional study, which means the patient received a treatment and the research team measured the results.[1]

Condition and patient group

The condition studied was LRBA deficiency due to homozygous nonsense mutations, also described as severe common variable immunodeficiency with autoimmunity.[1] This rare genetic disorder can cause too many lymphocytes, low antibody levels, recurrent infections, and autoimmune problems.[1]

The trial was a single-patient study, so it included only one person.[1] The source also notes that this disease may affect the gut, lungs, and brain, and may raise the risk of lymphoma, which is a type of cancer.[1]

Study design and phase

This was a Phase 2 trial.[1] Phase 2 studies usually look for early signs that a treatment may help, while also checking how well it is tolerated.[1]

The study status was Completed.[1] The intervention listed two forms of Translarna granules for oral suspension, both given orally.[1]

What the trial measured

The main outcome compared the treatment period with a five-year pre-treatment period.[1] Researchers looked for improvement in quality of life, weight, diarrhea episodes, and the number of hospitalizations.[1]

The brief summary also says the study examined clinical efficacy in normalizing lymphoproliferative symptoms, including lymphoproliferation, chronic diarrhea, and ascites.[1] It also assessed clinical tolerability in the single patient.[1]

What the study aimed to learn

The study aimed to see whether Ataluren could help control immune-related symptoms in a patient with LRBA deficiency.[1] It also aimed to learn whether the treatment could improve daily health measures such as weight, diarrhea, and hospital use.[1]

Because this was a single-patient study, the results can help generate ideas for future research, but they do not prove that the treatment will work for everyone with the same condition.[1]

Trial ID Phase Condition studied Status Enrollment
2024-518919-19-00 Phase 2 LRBA deficiency due to homozygous nonsense mutations; severe common variable immunodeficiency with autoimmunity Completed 1

FAQ

  • What is being studied in Ataluren clinical trials? The trial is studying whether Ataluren can help with symptoms of LRBA deficiency, including lymphoproliferation, chronic diarrhea, and ascites. It also looks at whether the treatment is tolerable in the patient.
  • Who was included in the trial data provided? The trial involved one patient with severe common variable immunodeficiency with autoimmunity due to homozygous stop codon mutations of LRBA. This makes it a single-patient study.
  • What phase is the Ataluren trial? The study is a Phase 2 trial. Phase 2 trials usually look at early signs of benefit and continue to assess safety and tolerability.
  • What outcomes were measured? The main outcomes were quality of life, weight, diarrhea episodes, and the number of hospitalizations. These were compared with a five-year pre-treatment period.
  • What was the goal of the study? The goal was to see whether Ataluren could improve immune-related symptoms and overall well-being in a patient with LRBA deficiency. The study also aimed to see if the treatment could be tolerated.

Ongoing Clinical Trials on Ataluren

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

    Not recruiting

    2 1 1 1
    Investigated drugs:
    Belgium

Glossary

  • LRBA deficiency: A rare genetic disorder of the immune system caused by changes in the LRBA gene. It can lead to too many immune cells, low antibody levels, infections, and autoimmune problems.
  • Autoimmunity: A condition where the immune system attacks the body's own tissues by mistake.
  • Lymphocytes: A type of white blood cell that helps fight infection. Too many of these cells can cause inflammation and tissue problems.
  • Antibodies: Proteins made by the immune system to help fight germs. Low levels can make infections more likely.
  • Lymphoproliferation: An increase in immune cells, especially lymphocytes. This can cause swelling or infiltration in organs.
  • Ascites: A build-up of fluid in the belly area.
  • Chronic diarrhea: Loose or watery stools that last a long time.
  • Quality of life: A measure of how a person's health affects daily living, comfort, and well-being.
  • Hospitalization: A stay in the hospital for treatment or monitoring.
  • Phase 2 trial: A clinical trial stage that looks at whether a treatment may help and continues to assess safety or tolerability.

References

  1. https://clinicaltrials.gov/study/2024-518919-19-00