Active not recruitingPHASE1, PHASE2INTERVENTIONAL

First-in-Human Study of TSHA-101 Gene Therapy for Treatment of Infantile Onset GM2 Gangliosidosis

This study is exploring a new treatment called TSHA-101 gene therapy for a serious genetic condition in babies called Infantile GM2 Gangliosidosis. This condition causes harmful substances to build up in the brain because the body can't break them down properly. TSHA-101 aims to fix the root cause. This first-of-its-kind study will look at how safe the treatment is and if babies can tolerate it when it's given as an injection into the fluid surrounding the spinal cord. It's an early-stage study, meaning researchers are taking careful steps to understand this new approach for a very challenging condition.

At a glance

Status

Active not recruiting

Phase

PHASE1, PHASE2

Sponsor

Dr. Anupam Sehgal

Enrolment target

Start

12 Mar 2021

Estimated completion

12 Mar 2027

Infantile GM2 Gangliosidosis (Disorder)

What is this study about?

This study is about a very important new treatment called TSHA-101, a type of gene therapy, for babies with a rare genetic condition known as Infantile GM2 Gangliosidosis. For babies with this condition, their bodies are missing a crucial enzyme (a type of protein) that helps clear away waste products in their cells. Without this enzyme, a harmful substance called GM2 builds up, particularly in the brain, leading to serious health problems.

The TSHA-101 gene therapy aims to provide the body with the correct genetic instructions to make this missing enzyme. By doing this, the hope is to prevent the GM2 build-up and help improve the health of these babies. This particular study is the very first time this treatment is being used in humans, so it's a careful step to understand how it works and whether it is safe.

The main goal of this early-stage study is to carefully check the safety of TSHA-101 when it's given directly into the fluid that surrounds the brain and spinal cord (a treatment called an intrathecal injection). Doctors will also be watching closely to see how well the babies tolerate the treatment and if there are any side effects. This research is vital for potentially developing new ways to treat this challenging condition.

Key takeaways

New gene therapy (TSHA-101) for Infantile GM2 Gangliosidosis.
First-in-human study, focused on safety and tolerability.
Treatment is given directly into the fluid around the spine.
Only for babies aged 15 months or younger with confirmed diagnosis.
Aims to provide the body with the missing enzyme.
Early research, benefits are not yet certain.

Who may be eligible?

To be considered for this study, babies must have Infantile GM2 Gangliosidosis. This diagnosis needs to be confirmed by genetic tests and other medical findings. They must also be 15 months old or younger at the time of joining the study.

There are also some reasons why a baby might not be able to join. For example, if they have another brain or development condition that isn't related to GM2 Gangliosidosis, or if they have other serious health problems. Babies needing a breathing tube for support cannot participate.

Also, if a baby cannot be safely sedated for the treatment, or if they have any known allergies or bad reactions to medicines that might be used to help them tolerate the treatment, they would not be able 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 baby has a confirmed diagnosis of Infantile GM2 Gangliosidosis.
My baby is 15 months old or younger.
My baby does not have other serious brain conditions not linked to GM2 Gangliosidosis.
My baby does not need a breathing machine for support.
My baby is not allergic to medicines that might be used during the study (e.g., for sedation).

Answer every question to see your result.

What does participation involve?

Details about what taking part in this study involves, such as the number and type of hospital visits, specific medical tests, medication schedules, and how long you'll be followed by the study team, are not fully provided in this summary. However, as with any gene therapy study, especially a first-in-human trial, it is very likely to involve frequent hospital visits, detailed medical assessments, and regular follow-up over an extended period. The treatment will be given as a single injection into the fluid surrounding the spinal cord (called an intrathecal injection). This procedure often requires sedation for babies. You would receive a full, detailed explanation of the entire study, including all time commitments, before deciding to participate.

Potential risks and benefits

This is an early-stage study, so the potential benefits are not yet fully known. However, the potential benefit is that TSHA-101 could help to treat the underlying cause of Infantile GM2 Gangliosidosis. As with any new treatment, there are potential risks, especially since this is the first time it's being used in humans. These risks could include side effects from the gene therapy itself or from the injection procedure. All possible risks will be fully explained to you before you consider participation, and you will have the right to withdraw your baby from the study at any time, for any reason, without it affecting their future medical care.

Locations (1)

Queen's University/Kingston Health Sciences Centre
Verified postcode
Kingston, Canada

Common questions

What is Infantile GM2 Gangliosidosis?

It's a rare genetic condition where the body can't break down certain waste products, causing them to build up and damage cells, especially in the brain.

What is TSHA-101?

It's a new type of medicine called a gene therapy, designed to help the body make a missing enzyme.

How is the treatment given?

It's given as an injection directly into the fluid around the brain and spinal cord, called an intrathecal injection.

Is this a cure?

This is an early study, so it's too soon to know if it's a cure. The main goal is to check safety and how well it's tolerated.

Who can join the study?

Babies with Infantile GM2 Gangliosidosis, aged 15 months or younger, might be eligible, provided they meet other health criteria.