RecruitingPHASE3INTERVENTIONAL

A Study of Sepiapterin in Participants With Phenylketonuria (PKU)

This study is investigating a new medicine called sepiapterin for children who have Phenylketonuria, or PKU. PKU is a rare condition where the body can't properly break down a substance called phenylalanine, which can build up and affect the brain. The main goal of this research is to see if giving sepiapterin to children with PKU from an early age can help keep their brain and thinking skills working well as they grow up. The study will look at how effective the medicine is over a longer period. It's a 'Phase 3' study, which means it's one of the final steps before a medicine might be considered for wider use.

At a glance

Status

Recruiting

Phase

PHASE3

Sponsor

PTC Therapeutics

Enrolment target

Start

04 Mar 2024

Estimated completion

28 Feb 2031

Phenylketonuria

What is this study about?

This research is looking into a new medicine called sepiapterin for children living with Phenylketonuria, often called PKU. PKU is a condition that affects how the body processes certain foods. If not treated, a substance called phenylalanine can build up in the body and could affect brain development and learning abilities over time. Current treatments usually involve a special diet and sometimes other medicines.

The main aim of this study is to find out if giving sepiapterin to children with PKU when they are very young can help protect their brain development and thinking skills in the long run. Researchers want to see if it can help them maintain their learning and problem-solving abilities as they get older. This is important because finding effective ways to support children with PKU is a key focus for doctors and scientists.

The study has two main parts. The first part will test how well each child responds to sepiapterin. The second part will involve taking the medicine for a longer period to see its ongoing effects. This is a crucial step in understanding if sepiapterin could be a helpful new treatment option for children with PKU.

Key takeaways

Tests a new medicine (sepiapterin) for PKU in children.
Aims to protect brain development when started early.
Participants continue their special PKU diet.
Involves regular clinic visits and health assessments.
It's a long-term study to look at ongoing effects.

Who may be eligible?

To join this study, children need to have a confirmed diagnosis of PKU. For toddlers and young children aged between 2 and a half years and 9 years, their thinking and learning skills (measured by an IQ test) should be within a certain range.

There are also some requirements for blood tests: participants must have certain levels of phenylalanine in their blood before joining, both high enough to confirm PKU, but also showing they can get it below a certain level with their current management. For very young babies (under one month), a high phenylalanine level found during newborn screening is important.

Some things might prevent someone from joining. This includes having allergies to similar medicines, having other serious medical or mental health conditions that aren't well controlled, or if they've recently taken certain other study medicines or treatments for PKU.

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.

Does your child have a confirmed diagnosis of PKU?
Is your child currently less than 10 years old?
If your child is between 2 and a half and 9 years old, have they had a recent IQ score of 80 or higher?
Has your child's phenylalanine level been both high (showing PKU) and sometimes lower (showing good diet management) recently?
Has your child avoided other similar PKU medicines or research drugs recently?
Are there any serious ongoing medical conditions not well-controlled?

Answer every question to see your result.

What does participation involve?

If a child takes part in this study, they will have check-ups and tests at the study clinic. The study is split into two parts. In the first part, doctors will check how your child responds to the study medicine, sepiapterin. This involves taking the medicine and having blood tests to see how their phenylalanine levels change. The second part involves taking the study medicine for a longer period.

Throughout the study, children will continue their prescribed special diet for PKU. There will be regular visits to the clinic for medical examinations, blood tests, and assessments of their brain functions and development. The total duration of participation will depend on the specific part of the study and the child's age, and will be explained fully by the study team. Girls and women who could become pregnant will need to use effective birth control during the study and for 90 days after their last dose of medicine.

Potential risks and benefits

Taking part in this study may offer potential benefits, such as access to a new medicine (sepiapterin) that could help manage PKU and support brain development. However, there are also potential risks, including possible side effects from the medication. The study team will explain all known side effects and monitor participants closely for any new issues. You have the right to withdraw your child from the study at any time, for any reason, without it affecting their regular medical care.

Locations (8)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

Indiana University School of Medicine
Verified postcode
Indianapolis, United States· Recruiting
Women and Children Hospital
Verified postcode
North Adelaide, Australia· Recruiting
The Royal Children's Hospital
Verified postcode
Parkville, Australia· Recruiting
Centre Hospitalier Régional Universitaire (CHRU) de Tours - Hôpital Clocheville
Verified postcode
Tours, France· Recruiting
Children's Health Ireland (CHI)
Verified postcode
Dublin, Ireland· Recruiting
Pomorski Uniwersytet Medyczny w Szczecinie
Verified postcode
Szczecin, Poland· Recruiting
Instytut Matki i Dziecka
Verified postcode
Warsaw, Poland· Recruiting
Birmingham Women's and Children's NHS Foundation Trust
Verified postcode
Birmingham, United Kingdom· Recruiting

Common questions

What is PKU?

Phenylketonuria (PKU) is a rare genetic condition where the body can't properly process a substance called phenylalanine, which can build up and affect the brain.

What is sepiapterin?

Sepiapterin is the name of the new medicine being tested in this study for treating PKU.

How long will the study last for my child?

The study has two parts, and the length of time your child participates will be discussed in detail by the study team, varying by age and response.

Will my child still need their special PKU diet?

Yes, all children in the study will continue to follow their prescribed special diet for PKU.

What if we change our minds about participating?

You can withdraw your child from the study at any time, for any reason, without it affecting their normal medical care.

How to find out more

Patient Advocacy

medinfo@ptcbio.com 1-866-562-4620 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.