CompletedInterventional

Investigating 4’PPT for pantothenate kinase associated neurodegeneration (PKAN)

This study is looking into a new treatment for a serious, rare brain condition called Pantothenate Kinase-Associated Neurodegeneration (PKAN). Children with PKAN gradually lose the ability to walk and talk and develop painful twisting movements. This happens because their bodies can't properly use vitamin B5. The study will test a special form of vitamin B5 called UK-PKAN-B5D. The main goal is to find out if this new medicine is safe for young people aged 1 to 25 with PKAN and if their bodies tolerate it well. There are currently no treatments that can stop this progressive disease, so this research is very important for finding new ways to help those affected.

At a glance

Status

Completed

Sponsor

Great Ormond Street Hospital for Children NHS Foundation Trust

Enrolment target

Start

29 Apr 2025

Estimated completion

16 Jan 2026

Pantothenate kinase-associated neurodegeneration (PKAN)

What is this study about?

PKAN, or Pantothenate Kinase-Associated Neurodegeneration, is a very rare but severe condition that affects the brain. It means that children, who are usually born perfectly healthy, slowly lose their abilities to walk and talk. They also often develop painful, uncontrolled twisting movements of their body, known as dystonia. This happens because their bodies have trouble converting regular vitamin B5 into a crucial molecule needed for healthy brain function. Currently, there are no effective treatments that can change the course of PKAN, which often leads to significant disability and can be life-threatening during childhood. This is why finding new treatments is so important.

This study is investigating a new potential treatment designed to correct the underlying problem in PKAN. This treatment is a specially modified form of vitamin B5, called 4’-phosphopantetheine (or UK-PKAN-B5D). Researchers believe that by providing this 'partially processed' form of vitamin B5, they might be able to bypass the body's difficulty in converting it, thereby helping the brain get what it needs. This is a crucial step towards finding a way to manage or even improve the lives of people with PKAN.

The main purpose of this particular study is to check if UK-PKAN-B5D is safe and well-tolerated by people with PKAN. It's an important first step. If it proves to be safe, the researchers hope to develop it further as a special food supplement to help manage the diet of patients with PKAN in the future. This research could open doors to new treatment options for this very challenging condition.

Key takeaways

It's a study testing a new form of vitamin B5 (UK-PKAN-B5D) for the rare brain condition PKAN.
The main aim is to check if the medicine is safe and well-tolerated in young people (1-25 years old).
There are currently no treatments that can stop PKAN from getting worse.
Participants will take the medicine daily for 24 weeks, followed by another 24 weeks where everyone gets the medicine.
The study is low risk, and researchers hope to eventually develop this into a dietary supplement.
It's being run by Great Ormond Street Hospital and funded by charities.

Who may be eligible?

This study is looking for young people with a confirmed diagnosis of PKAN. This means a doctor has officially identified the condition, either through specific gene tests or by looking at their medical history, examination results, and brain scans.

To join, participants need to be between 1 year and 25 years old. They must be able to take the study medicine, either by mouth or through a feeding tube. It's also important that they can travel for the study visits and complete the necessary tests.

There are also some reasons someone might not be able to join. This includes if they have recently tried other similar experimental treatments, are taking part in another drug study, are pregnant or breastfeeding, or have certain other medical conditions that might make the study difficult or unsafe. Participants must also be a UK resident for the duration of the study.

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.

Do I have a confirmed diagnosis of PKAN?
Am I between 1 and 25 years old?
Can I take medicine by mouth or through a feeding tube?
Am I a UK resident and able to travel for study visits?
Am I currently pregnant or breastfeeding?
Have I recently participated in another medical study or tried other experimental PKAN treatments?

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, you will be assigned by chance (like flipping a coin) to one of two groups. One group will receive the new medicine, UK-PKAN-B5D, and the other will receive a dummy pill (placebo) that looks the same but contains no active medicine. You will take this medicine daily, either by mouth or through a feeding tube, for 24 weeks (about 6 months).

After these 24 weeks, everyone in the study will then receive the UK-PKAN-B5D for another 24 weeks. During the study, you will have regular safety blood tests, and the medical team will keep a close eye on any side effects you might experience. They will also use special daily activity and disease rating scales to see how you are doing. Exploratory tests will include blood samples for 'biomarkers,' eye tests to check for eye problems related to PKAN, and assessments of your quality of life and twisting movements (dystonia). The study is expected to run from September 2020 to March 2027.

Potential risks and benefits

The main goal of this study is to ensure that the new potential medicine, UK-PKAN-B5D, is safe and well-tolerated by participants, meaning it doesn't cause significant unwanted side effects. Researchers believe this study medicine is low risk, as there has been no evidence of harm from animal or other human studies. While there's no guarantee of direct benefit for participants in this first safety study, the long-term aim is to develop this medicine into a useful tool for managing PKAN. You have the right to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (1)

Great Ormond Street Hospital for Children
Approximate
London, England

Common questions

What is PKAN?

PKAN is a rare and serious brain condition where the body can't properly use vitamin B5, leading to problems with movement, speech, and can cause painful twisting movements.

What is UK-PKAN-B5D?

It's a special, modified form of vitamin B5 being tested to see if it can help correct the underlying problem in people with PKAN.

Is this a cure for PKAN?

No, there is currently no cure for PKAN. This study is aimed at finding out if UK-PKAN-B5D is safe and well-tolerated, which is the first step towards developing a new treatment.

Will I definitely get the new medicine?

For the first 24 weeks, you will be randomly assigned to either receive the new medicine or a dummy pill. After that, everyone in the study will receive the new medicine for another 24 weeks.

Where is the study taking place?

The study is being run from Great Ormond Street Hospital for Children in the UK.

How to find out more

Manju Kurian

manju.kurian@ucl.ac.uk 1.1 extension Official trial record

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