An Open-label, Single Arm Study of the Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Leniolisib in Pediatric Patients (Aged 1 to 6 Years) with APDS (Activated Phosphoinositide 3-Kinase Delta Syndrome) Followed by an Open-label Long-term Extension
Activated PI3K Delta Syndrome (APDS) is a rare genetic condition that weakens the immune system. Children with APDS often face repeated infections, poor growth, and swollen lymph nodes, liver, or spleen. This study is testing an oral medicine called leniolisib in children aged 1 to 6 years old. Because this is an open-label study, every child who joins will receive the actual medicine; no one receives a dummy pill (placebo). Researchers want to find out how the body handles the medicine, whether it is safe, and if it helps balance the immune system. Doctors will measure whether leniolisib shrinks swollen glands, reduces the need for antibiotics, and supports normal childhood growth. The study begins with a 12-week monitoring phase, followed by a longer-term period where children can continue taking the treatment while their health is carefully tracked.
At a glance
What is this study about?
Activated PI3K Delta Syndrome (APDS) is a rare genetic condition that affects the body's natural defences. In children with APDS, a specific immune switch is stuck in the 'on' position. This causes the immune system to become unbalanced. Children often suffer from frequent chest and ear infections, extreme tiredness, and swollen lymph nodes, spleen, or liver (known as lymphoproliferation).
Leniolisib is a targeted medicine designed to turn down this overactive switch. By bringing the immune system back into balance, doctors hope it will help the body fight off everyday bugs more effectively and reduce the swelling in the lymph nodes and internal organs. While this medicine has already been studied in older patients, younger children process medicines differently and have unique growth needs.
This study focuses specifically on toddlers and young children aged 1 to 6 years. It aims to confirm the correct dosage, ensure the medicine is safe over time, and see if it helps children grow and develop normally. Finding an effective treatment at an early age could prevent long-term damage caused by repeated infections and organ swelling.
Key takeaways
- Tests whether leniolisib is safe and effective for young children aged 1 to 6 with APDS.
- All participants receive the active study medicine; there is no placebo.
- The initial treatment period lasts 12 weeks, with an option to continue in a longer follow-up study.
- Aims to reduce infections, shrink swollen lymph glands, and support healthy development.
- Participation is entirely voluntary, and parents can withdraw their child at any time.
Who may be eligible?
This trial is specifically for young children aged between 1 and 6 years who have a confirmed genetic diagnosis of APDS (Activated PI3K Delta Syndrome). Both boys and girls can take part.
To be eligible, children must be able to attend planned clinic visits and have parents or guardians who can help them take the medicine as instructed. Children will also need to be able to undergo routine health checks, such as height and weight measurements, blood tests, and scans.
Children may not be able to join if they have other serious medical conditions, certain active infections, or if they are taking specific medications that could interact dangerously with the study drug. The trial doctor will review your child's complete medical history to ensure it is safe for them to take part.
Could this study suit you?
Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.
- My child is between 1 and 6 years of age.
- My child has a confirmed diagnosis of APDS (Activated PI3K Delta Syndrome).
- We are able to attend regular hospital appointments for check-ups and scans.
- My child is able to take medicine by mouth.
- I am willing to give parental consent for my child to take part.
What does participation involve?
Taking part in this study involves giving your child the study medicine, leniolisib, by mouth. The first part of the study lasts for 12 weeks. During this time, you will visit the hospital clinic regularly so the medical team can track your child's progress. Visits will include physical examinations, height and weight checks, heart tracings (ECGs), and blood and urine tests.
To see if the medicine is shrinking swollen glands, your child will also have imaging scans (such as an MRI or low-dose CT scan) at the start and after 12 weeks. If your child tolerates the medicine well, they may be invited to join a long-term extension phase lasting up to a year or longer. During this phase, doctors will continue to monitor your child's growth, infection rates, and general health to see how the medicine works over time.
Potential risks and benefits
Locations (2)
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Common questions
What is APDS?
APDS is a rare inherited condition that makes parts of the immune system overactive. This leaves children vulnerable to frequent infections and causes swollen glands, spleen, or liver.
Will my child definitely receive the medicine?
Yes. This is an 'open-label' study, which means there is no placebo (dummy medicine). Every child who joins will receive leniolisib.
How is the medicine given?
Leniolisib is an oral medication, meaning it is taken by mouth at home as instructed by the study doctor.
How long will my child be in the study?
The main part of the study lasts 12 weeks. After this, children can enter an extended phase that can last for a year or longer to monitor their long-term health.
Can we leave the study if we change our minds?
Yes. Taking part is completely voluntary. You can stop participating at any time, and your child's normal medical care will not be affected.
How to find out more
Always speak to your GP or specialist before deciding to take part in a study.
Interested in taking part?
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