RecruitingPHASE1, PHASE2INTERVENTIONAL

A First-in-Human, Open-Label, Dose-Escalation Study to Evaluate the Safety and Tolerability of Gene Therapy With TTX-381 for the Ocular Manifestations Associated With Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Disease

This study is looking at a new gene therapy called TTX-381 for children who have a condition called CLN2 disease, or Batten disease. Children with CLN2 disease have a missing or faulty gene, which means their bodies can't make a special helper protein called TPP1. Without enough TPP1, harmful substances build up in their bodies, especially in their brain and eyes, leading to problems like seizures and vision changes. This study is the first time TTX-381 has been given to people. The aim is to check if it's safe and if it can help with the eye problems caused by CLN2 disease. Researchers will follow participants for five years to see how they respond.

At a glance

Status

Recruiting

Phase

PHASE1, PHASE2

Sponsor

Tern Therapeutics, LLC

Enrolment target

Start

17 May 2023

Estimated completion

30 Jul 2031

Neuronal Ceroid Lipofuscinosis Type 2

What is this study about?

This study is about a new treatment called TTX-381. It's a type of gene therapy designed for children with a serious condition called Neuronal Ceroid Lipofuscinosis Type 2, or CLN2 disease, which is also known as Batten disease. Children with CLN2 disease have a problem with their genes, which are like instruction manuals for our bodies. This problem means their body can't make enough of a special helper protein, or enzyme, called TPP1.

Without enough TPP1, certain unwanted materials build up inside the cells of their body, especially in the brain and eyes. This build-up causes serious issues like seizures, problems with development, and vision loss. The main goal of this study is to see if TTX-381 can safely help improve or slow down the eye problems that children with CLN2 disease experience. Researchers will give the treatment to one eye and compare it to the other eye, which won't receive the treatment, to see the effects. Your child will be monitored for five years after getting the treatment.

This is the very first time this specific gene therapy, TTX-381, is being tested in humans. Because of this, the study will start with a small number of participants to carefully check its safety and see how different amounts of the treatment are handled by the body. This kind of research is important because it could lead to new ways to help children with CLN2 disease.

Key takeaways

This study is testing a new gene therapy (TTX-381) for eye problems in CLN2 disease.
It's the first time this treatment is being given to people.
The therapy aims to help correct the underlying genetic problem causing CLN2.
Participants will be followed for five years to monitor safety and effectiveness.
Only children with specific signs of CLN2 and within a certain age range can join.

Who may be eligible?

This study is looking for children with CLN2 disease who are between 12 months (1 year old) and 84 months (7 years old). To join, your child must have specific genetic tests showing they have CLN2, and their doctors must have found reduced activity of the 'TPP1' helper protein in their blood.

Your child should also be showing signs of CLN2 disease, like delays in development, seizures, or vision problems. If they have an older sibling already diagnosed with CLN2 disease, that can also help them be considered. It's important that your child is already receiving another CLN2 treatment (Cerliponase Alfa) given every two weeks into the brain fluid.

There are also some specific requirements about your child's eye health. For example, their eyes must not have severe existing problems like cataracts, glaucoma, or major retinal issues that could make it hard to give the treatment or understand the results. Also, the vision in both eyes should be fairly similar. All participants, or if applicable, their parents, must be willing to attend study visits for five years.

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.

Is my child between 1 and 7 years old?
Does my child have a confirmed diagnosis of CLN2 disease (Batten disease)?
Is my child currently receiving the Cerliponase Alfa treatment every two weeks?
Does my child have specific vision changes or other CLN2 symptoms?
Are we able to commit to 5 years of follow-up visits?

Answer every question to see your result.

What does participation involve?

If your child takes part in this study, they will receive the TTX-381 gene therapy in one eye. The other eye will not receive the treatment, acting as a comparison. Before this, they will have several check-ups and tests to make sure they are suitable for the study. These will include blood tests, eye exams, and other medical assessments.

After receiving the treatment, your child will need to attend regular follow-up visits for five years. These visits will involve ongoing eye checks, general health assessments, and possibly blood tests to monitor their progress and safety. It's important to be able to stick to this schedule for the entire five-year period. If participating, sexually active female participants of childbearing potential or fertile male participants will need to use effective contraception for a period around the treatment.

Potential risks and benefits

Participating in this study might offer the potential benefit of a new treatment that could help slow down or improve the eye problems related to CLN2 disease, as current treatments primarily focus on brain symptoms. However, as this is a new gene therapy, there are unknown risks, including possible side effects from the treatment itself, effects on vision, or even allergic reactions. Regular monitoring will be in place to detect any issues early. You and your child are free to withdraw from the study at any time, for any reason, without it affecting their ongoing medical care.

Locations (2)

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

University Medical Center Hamburg-Eppendorf (UKE)- Childrens Hospital
Verified postcode
Hamburg, Germany· Recruiting
Greater Ormond Street Hospital
Verified postcode
London, United Kingdom· Recruiting

Common questions

What is CLN2 disease?

CLN2 disease, also called Batten disease, is a rare genetic condition where the body can't make enough of a special helper protein, leading to harmful substances building up in the brain and eyes.

What is gene therapy?

Gene therapy is a new type of treatment that aims to fix or replace faulty genes in a person's body to help treat a disease.

How is the treatment given?

The gene therapy, TTX-381, will be given directly into one of your child's eyes during a medical procedure.

How long will the study last?

Participants will be followed closely for five years after receiving the treatment to see how they are doing.

Can my child withdraw from the study?

Yes, you can choose to withdraw your child from the study at any time, for any reason, and it won't affect their ongoing medical care.

How to find out more

Tern Therapeutics Patient Advocacy

patientadvocacy@terntx.com 202-644-8488 Official trial record

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