Not yet recruitingPHASE3INTERVENTIONAL

Study With Batten-1 (Miglustat Liquid Formulation) to Treat Ceroid Lipofuscinosis Neuronal 3 (CLN3) Disease

CLN3 Batten disease is a rare inherited condition that causes gradual sight loss, movement challenges, and seizures in children and teenagers. Currently, there is a strong need for treatments that can protect eyesight. This trial is testing a liquid medicine called Batten-1 (miglustat) to see if it can slow down or stabilise the loss of vision. Around 27 young people aged 4 to 17 will take part. Because this is an open-label study, every participant will receive the study medicine. Treatment lasts for one year (52 weeks). Doctors will start with a low dose and slowly increase it over eight weeks to help avoid tummy upsets. A low-carbohydrate diet is also advised to prevent diarrhoea. Participants will visit the hospital roughly every six months for eye tests, general health checks, blood tests, and heart tracings, while keeping a home diary of symptoms.

At a glance

Status

Not yet recruiting

Phase

PHASE3

Sponsor

Beyond Batten Disease Foundation

Enrolment target

Start

01 Dec 2026

Estimated completion

01 Jun 2028

CLN3

What is this study about?

CLN3 disease, often known as juvenile Batten disease, is a rare genetic disorder that affects the nervous system. Over time, waste materials build up inside the body's cells, particularly in the brain and eyes. One of the earliest and most noticeable signs of the condition is progressive eyesight loss, which eventually leads to blindness, alongside difficulties with coordination, movement, and seizures.

This trial is studying Batten-1, an oral liquid form of a medicine called miglustat. Miglustat is already used for other rare metabolic conditions, where it helps reduce the harmful build-up of cellular waste. Researchers hope that Batten-1 will protect nerve cells in the eyes and brain, helping to slow down or even pause the decline in sight for children and young people living with CLN3.

The study will follow around 27 children for 52 weeks. Since there is no dummy drug (placebo) in this trial, all children enrolled will receive Batten-1. Researchers will compare their vision and general health against existing medical records from people with CLN3 who have not received the treatment, helping doctors understand if the medicine makes a meaningful difference.

Key takeaways

Tests whether a daily liquid medicine (Batten-1) can slow eyesight loss in CLN3 Batten disease.
Open to children and teenagers aged 4 to 17 with a confirmed genetic diagnosis.
Every participant receives the active study medicine; there is no placebo.
Doses are increased slowly over eight weeks alongside a low-carbohydrate diet to reduce tummy side effects.
The trial lasts for 52 weeks, with hospital check-ups scheduled roughly every six months.

Who may be eligible?

This study is open to boys and girls aged between 4 and 17 years old who have a confirmed genetic diagnosis of syndromic CLN3 Batten disease. To take part, children must still have some remaining vision. As a guide, they should be able to at least count fingers held up in front of one eye.

Participants must be able to complete regular eye checks and clinic visits, with the support of a parent or guardian. Teenagers of childbearing potential who are sexually active must agree to use reliable contraception during the study and for one month afterwards.

Children cannot join if they have a rare genetic form of CLN3 that only affects the eyes without any nervous system symptoms. They may also be excluded if they have other eye conditions, such as severe cataracts, that prevent doctors from measuring their vision clearly.

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.

The child is aged between 4 and 17 years old.
There is a confirmed genetic diagnosis of CLN3 Batten disease.
The child still has some vision left (can at least count fingers with one eye).
A parent or guardian is willing to give consent and support study visits.
The family is able to follow the liquid dosing and dietary guidance at home.

Answer every question to see your result.

What does participation involve?

Taking part in the trial lasts for about one year (52 weeks) in total. At the start, the medicine is taken by mouth as a liquid. The doctor will begin with a low dose and gradually increase it over eight weeks. This slow step-up, combined with a special low-carbohydrate diet, helps prevent stomach troubles.

Once the child reaches their target dose, they will continue taking Batten-1 every day for the rest of the year. Families will need to visit the hospital clinic at the beginning, after the dose step-up, and then every 24 weeks (roughly every six months).

During hospital visits, the care team will carry out detailed eye tests, check walking and motor skills, take blood samples, and perform painless heart tracings (ECGs). At home, parents or carers will be asked to keep a simple daily diary to record medication doses and note down any seizures.

Potential risks and benefits

The potential benefit of joining is that the treatment may help protect your child's eyesight or slow down the progression of CLN3 disease, though this cannot be guaranteed. The study also helps scientists learn more about treating this rare condition. The most common risks of miglustat involve digestive problems, such as loose stools, diarrhoea, stomach ache, and weight loss, which the medical team aims to manage using diet and slow dosing. Regular blood tests may also cause brief discomfort. Taking part is completely voluntary, and you can withdraw your child from the trial at any time without giving a reason and without it affecting their normal NHS care.

Locations (10)

Children's Hospital Colorado Anschutz Medical Campus
Verified postcode
Aurora, United States
Kennedy Krieger Institute, Clinical Trials Unit
Verified postcode
Baltimore, United States
Texas Children Hospital
Verified postcode
Houston, United States
Department of Paediatric and Adolescent Medicine Aarhus University Hospital
Verified postcode
Aarhus, Denmark
Service de Neurologie Hôpital Pediatrique Armand Trousseau
Verified postcode
Paris, France
UKE - Universitätsklinikum Hamburg-Eppendorf
Verified postcode
Hamburg, Germany
Meyer Children's Hospital
Verified postcode
Florence, Italy
UMCU-WKZ, Polikliniek Metabole Ziekten
Verified postcode
Utrecht, Netherlands
Sahlgrenska University Hospital, Queen Silvia Children's Hospital
Verified postcode
Gothenburg, Sweden
Great Ormond Street, London
Verified postcode
London, United Kingdom

Common questions

Will my child definitely receive the real medicine?

Yes. This is an open-label study, which means there is no dummy medicine (placebo). Every child who joins will be given Batten-1.

How is Batten-1 taken?

It is a liquid medicine taken by mouth three times a day. The dose is carefully measured using a small oral pipette based on your child's weight.

Why is a low-carbohydrate diet recommended?

Miglustat can cause tummy upsets and watery diarrhoea if it reacts with sugars and starches in the gut. Eating fewer carbohydrates helps the digestive system tolerate the medicine comfortably.

How often will we need to visit the hospital?

After the initial setup and dose adjustments over the first two months, main hospital visits take place roughly every six months (every 24 weeks).

Can we leave the study if we change our minds?

Yes. You have the right to withdraw your child from the study at any point. Your decision will not alter the standard of medical care your family receives.

How to find out more

Marie J Sebille, MD, PhD

marie.sebille@thxpharma.com +33688941976 Official trial record

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