Active not recruitingPHASE1, PHASE2INTERVENTIONAL

Gene Therapy with Modified Autologous Hematopoietic Stem Cells for Patients with Mucopolysaccharidosis Type IIIA

This study is exploring a new type of gene therapy for very young children (aged 3 to 24 months) with a serious genetic condition called Sanfilippo syndrome type A (MPS IIIA). Children with MPS IIIA have a faulty gene that leads to a build-up of certain waste products in their bodies, especially in the brain, causing severe and progressive brain damage. Currently, there's no effective treatment. This therapy involves taking some of the child's own blood stem cells, modifying them in the lab to include a working copy of the missing gene, and then giving them back to the child. The aim is for these corrected cells to produce the missing enzyme, helping to clear the waste products and prevent further brain damage. Researchers will closely monitor the children for at least three years to see if the treatment is safe and effective.

At a glance

Status

Active not recruiting

Phase

PHASE1, PHASE2

Sponsor

University of Manchester

Enrolment target

Start

07 Jan 2020

Estimated completion

30 Oct 2026

Mucopolysaccharidosis Type IIIA

What is this study about?

Sanfilippo syndrome type A, also known as MPS IIIA, is a rare but very serious genetic condition that mainly affects the brain. It's caused by a problem with a specific gene that means the body can't produce an important enzyme. Without this enzyme, certain waste products, called glycosaminoglycans, build up inside the body's cells, particularly in the brain. This build-up leads to severe and progressive brain damage, causing significant learning and developmental difficulties. Sadly, there is currently no cure or effective treatment that can stop this progression.

This study is a pioneering step to see if a new gene therapy can help. The idea is to correct the genetic fault using the child's own cells. Small children with MPS IIIA who are between 3 and 24 months old might be able to take part. The study will carefully choose 3 to 5 young patients who meet specific health requirements.

The treatment involves taking some of the child's own blood-forming stem cells. These cells are then sent to a lab where scientists introduce a healthy copy of the missing gene into them. After this modification, the cells are given back to the child. The hope is that these 'corrected' cells will then produce the missing enzyme, which can break down the harmful waste products and prevent further brain damage. After receiving the treatment, the children will be carefully monitored for at least three years to check its safety and how well it works.

Key takeaways

This is a new gene therapy study for young children with Sanfilippo syndrome type A (MPS IIIA).
It aims to correct the genetic fault using the child's own modified cells.
The main goal is to check if the treatment is safe and can help improve symptoms.
Children aged 3-24 months with rapidly progressing MPS IIIA may be eligible.
Participants will be closely monitored for at least three years after treatment.

Who may be eligible?

This study is looking for a small number of very young children with Sanfilippo syndrome type A (MPS IIIA). To be considered, a child must be between 3 months and 24 months old. They should have normal or only slightly delayed development at the start of the study, as assessed by specific tests. Importantly, the child must have a form of MPS IIIA that is known to progress quickly, or have strong signs that it will be rapid.

There are also some medical requirements. The child must have very low levels of the enzyme that causes MPS IIIA and have a specific genetic diagnosis for the condition. They need to be generally healthy enough to take part in the study and able to travel for appointments. Their legal guardian(s) must also be able to understand and agree to all aspects of the study.

However, some children won't be able to join. This includes those who have already had stem cell therapy, gene therapy, or enzyme replacement therapy. Children currently in other medical research studies, those with certain medical conditions like poorly controlled seizures, or specific genetic patterns linked to slower forms of MPS IIIA will also be excluded. Also, if a child is taking medications that might interfere with the study results, or has certain infections, they wouldn't be eligible.

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 your child between 3 and 24 months old?
Does your child have Sanfilippo syndrome type A (MPS IIIA) that is expected to progress quickly?
Has your child *not* had other stem cell, gene therapy, or enzyme treatments for MPS IIIA?
Are you able to travel for regular hospital visits and appointments?
Is your child's general health stable enough to take part?

Answer every question to see your result.

What does participation involve?

If your child takes part in this study, they will receive a gene therapy treatment using their own modified cells. This is a one-time treatment, but it involves several procedures. Before the treatment, your child will have various tests and assessments to make sure they are suitable for the study. This includes developmental checks, blood tests, and potentially MRI scans (if medically appropriate).

During the treatment phase, some of your child's blood stem cells will be collected. These cells will then be sent to a special lab for modification, which can take some time. Once modified, the cells will be given back to your child. After the treatment, your child will have regular check-ups and assessments, including follow-up visits, blood tests, and developmental assessments for at least three years. The total commitment will involve frequent visits, especially in the initial period, and continued monitoring for the full three years.

Potential risks and benefits

As this is a first-time use of this therapy in humans, the potential benefits and risks are not fully known. A potential benefit is that the gene therapy could provide the missing enzyme, slowing or stopping the progression of brain damage in MPS IIIA. However, there are potential risks, including side effects from the cell collection and administration procedures, risks associated with the genetic modification process, and potential long-term safety concerns that are not yet understood. You would be fully informed of all known and potential risks before deciding to participate. Crucially, taking part in any study is always voluntary, and you have the right to withdraw your child from the study at any time, without giving a reason, and without affecting their future medical care.

Locations (1)

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

Manchester University NHS Foundation Trust
Verified postcode
Manchester, United Kingdom

Common questions

What is Sanfilippo syndrome type A?

It's a serious genetic condition where the body can't break down certain waste products, which then build up, especially in the brain, causing progressive brain damage.

Why use the child's own cells for therapy?

Using their own cells means the body is less likely to reject the treatment, making it potentially safer and more effective.

What does a 'gene therapy' mean in simple terms?

It's a new type of treatment that aims to fix the underlying genetic problem by adding a working copy of the missing gene to the body's cells.

How long will my child be followed up after treatment?

Children who receive the gene therapy will be closely monitored by the study team for at least three years to check their health and the effects of the treatment.

Is this a cure for Sanfilippo syndrome type A?

This is an early-stage study to investigate the safety and potential effectiveness of a new treatment. It's not yet known if it will be a cure, but it aims to address the root cause of the condition.