A single patient trial with Ataluren in one case of severe common variable immunodeficiency with autoimmunity due to homozygous stop codon mutations of LRBA
This study, called a Phase II trial, is investigating a medicine called Translarna for a very rare immune system condition known as LRBA deficiency. This condition happens when a specific gene, LRBA, isn't working properly, leading to too many immune cells, tummy problems, infections, and other issues. In severe cases, it can increase the risk of certain cancers. The researchers want to see if Translarna can make a real difference in the lives of adult men with this condition. They will compare health improvements over five years, focusing on things like quality of life, weight, diarrhoea, and hospital visits. This is an early-stage study, exploring potential treatments for a condition where options are currently limited.
At a glance
What is this study about?
This study is looking into a new medicine for a very rare genetic condition that affects the immune system, called LRBA deficiency. Our immune system is incredibly important; it protects us from infections and diseases. In people with LRBA deficiency, a specific gene isn't working correctly. This causes problems like having too many immune cells (lymphocytes), which can attack the body's own healthy tissues (this is called autoimmunity). It can also lead to low levels of antibodies, making people more prone to infections. These extra immune cells can gather in different parts of the body, and often affect the gut, lungs, and even the brain, causing a range of symptoms. Unfortunately, LRBA deficiency can also increase the risk of a type of cancer called lymphoma.
The medicine being tested is called Translarna. This study is an early-stage trial (Phase II), which means researchers are still exploring how well it works and if it's safe for this specific condition. They want to see if it can help improve the daily lives of people with severe LRBA deficiency. This is important because there aren't many treatments available for this rare condition, so finding something that can help improve symptoms and quality of life would be a big step forward.
The main aim of this study is to compare how people's health changes over five years while taking Translarna, compared to the five years before they started the medicine. They will be looking for improvements in things like overall quality of life, whether they gain weight if they were underweight, if they have fewer episodes of diarrhoea, and if they need to be hospitalised less often. They will also be doing some blood tests to see if the medicine affects certain immune markers, which could give them more clues about how it works.
Key takeaways
- This is a study for a rare immune system condition called LRBA deficiency.
- It's testing a medicine called Translarna in adult men with severe forms of the condition.
- The study aims to see if Translarna improves daily life, weight, and reduces illness.
- It will track progress over five years, comparing it to the five years before treatment.
- This is an early-stage study, exploring new treatment options.
Who may be eligible?
This study is looking for specific participants. To be considered, you must be an adult, 18 years old or older, and you must be male.
The study is specifically for individuals who have been diagnosed with a severe form of LRBA deficiency caused by a particular genetic change called 'homozygous nonsense mutations'. This is a very specific type of genetic problem that your doctor would need to confirm.
It's important to remember that this study has very precise requirements given the rare nature of the condition and the early stage of the research. Not everyone with LRBA deficiency will be suitable for this particular trial.
- Are you 18 years old or older?
- Are you male?
- Have you been diagnosed with LRBA deficiency caused by 'homozygous nonsense mutations'?
- Is your LRBA deficiency considered severe?
This is a guide only — the research team will confirm whether you can take part.
What does participation involve?
Taking part in this study would involve regular visits to the clinic for assessments. You would be given the study medicine, Translarna, which comes as granules to be mixed and taken by mouth. This medicine will be given in specific doses (either 1000 mg or 250 mg). The study will compare your health over a five-year period *after* you start the medicine, with your health over the *five years before* you started. This means researchers will be collecting information about your health before the study started, and then throughout the five years you are taking the medicine. Assessments will include checking your quality of life, weight, frequency of diarrhoea, and hospital admissions, as well as blood tests to look at immune markers. The total duration of active participation, including taking the medication and having assessments, would span five years.
Potential risks and benefits
Locations (1)
- —Belgium
Common questions
What is LRBA deficiency?
It's a rare genetic condition where your immune system doesn't work properly, leading to problems like infections, tummy troubles, and too many immune cells.
What is Translarna?
Translarna is a medicine being tested in this study to see if it can help people with severe LRBA deficiency.
Who can join this study?
This study is for adult men (18 years or older) with a severe form of LRBA deficiency caused by very specific genetic changes.
What will researchers be looking for?
They'll be checking if Translarna helps improve your quality of life, weight, diarrhoea, and reduces hospital visits over five years.
Is this a new medicine?
Translarna is already approved for other conditions, but this study is to explore if it can help with LRBA deficiency, so it's new for this specific condition.
How to find out more
Always speak to your GP or specialist before deciding to take part in a study.
Discussion
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