Ongoing, recruitingPhase I and Phase II (Integrated)- OtherInterventional

An Open-Label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients with Metachromatic Leukodystrophy

This study is continuing to look at a new treatment called rhASA for a rare genetic condition in children and young people called Metachromatic Leukodystrophy (MLD). Specifically, this part of the study is checking how safe the treatment is over a long period. Researchers are also seeing if it helps improve or slow down the symptoms of MLD, particularly problems with movement and everyday skills. This treatment is given directly into the fluid around the brain and spinal cord. It's an important step in finding better ways to manage this serious condition, making sure that any benefits outweigh potential risks.

At a glance

Status

Ongoing, recruiting

Phase

Phase I and Phase II (Integrated)- Other

Sponsor

Shire Human Genetic Therapies Inc.

Enrolment target

Start

02 Oct 2024

Late Metachromatic Leukodystrophy (MLD)

What is this study about?

This research study is about a condition called Metachromatic Leukodystrophy, or MLD for short. MLD is a rare genetic disease that mainly affects children and young people. It causes damage to the protective covering around nerves, leading to problems with movement, thinking, and other important body functions over time. Currently, there aren't many effective treatments, so finding new options is really important.

The study is testing a new medication called rhASA. It's an 'open-label extension' study, which means that all patients taking part will receive the active treatment, and the study is continuing on from an earlier trial. Researchers want to see if this treatment is safe to use for a long time and if it can help improve or slow down the progression of MLD symptoms. This particular treatment is given directly into the fluid that surrounds the brain and spinal cord, which is thought to be the best way to get the medicine to where it's needed most.

The main focus of the study is to carefully watch for any side effects or unwanted reactions to the treatment. They will also be checking to see if the treatment has any positive effects on things like how well patients can move, their daily living skills, and how their bodies are responding to the medication.

Key takeaways

This study is testing a new treatment (rhASA) for Metachromatic Leukodystrophy (MLD).
It aims to understand the long-term safety and effects of the treatment.
The treatment is delivered directly to the fluid around the brain and spinal cord.
Regular health checks and assessments of movement and daily skills will be part of the study.
Only people with late-onset MLD who were in the previous study may be suitable.
Participation is voluntary, and you can withdraw at any time.

Who may be eligible?

This study is specifically for children and young people who have been diagnosed with a type of Metachromatic Leukodystrophy (MLD) that starts later in childhood or adolescence.

There are no specific age limits mentioned beyond having MLD, so people of various ages with this diagnosis might be able to take part. Both boys and girls can join the study.

To be eligible, you would likely need to have taken part in the previous study (HGT-MLD-070) that looked at this treatment, as this is an extension of that research. The study team would carefully check all your medical information to make sure this study is the right fit for you.

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 you have a diagnosis of Metachromatic Leukodystrophy (MLD)?
Is your MLD considered 'late-onset' (meaning it started later in childhood or adolescence)?
Did you participate in the previous study (HGT-MLD-070) for this treatment?
Are you able to attend regular appointments for tests and assessments?
Are you comfortable with the idea of having regular blood tests and samples taken of fluid from around your spine?

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, you would primarily be monitored closely to see how the rhASA treatment affects you. This involves regular check-ups where doctors will look for any side effects and check your general health through blood and urine tests. They will also regularly check your vital signs like heart rate and blood pressure, and do physical examinations.

Part of the assessment will involve taking samples of the fluid from around your brain and spinal cord (called CSF) at certain times, though one specific test (CSF albumin) will no longer be collected. They will also look for how your body reacts to the medicine in your blood and CSF.

Throughout the study, your movement skills and daily abilities will be regularly assessed. However, some of these assessments might stop if your condition progresses to a certain point where those specific tests are no longer suitable. The visits will be spread out over a long period, as this study is about long-term effects, and the total duration would be explained by the study team.

Potential risks and benefits

Taking part in a study like this might offer the potential benefit of possibly improving or slowing down the progression of MLD symptoms with a new treatment. However, as with any new medication, there are potential risks, including side effects from the treatment itself and from the procedures involved, like regular blood tests or collecting fluid from around the spine. The research team will carefully monitor you for any such effects. It is very important to remember that participating is entirely voluntary, and you have the right to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (5)

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

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Unverified
Czechia
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Unverified
Denmark
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Unverified
Germany
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Unverified
France
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Unverified
Italy

Common questions

What is Metachromatic Leukodystrophy (MLD)?

MLD is a rare genetic condition that damages the nerves in the brain and body, leading to problems with movement and other body functions.

What is rhASA, the treatment being studied?

rhASA is a new medication that this study is testing to see if it can help treat MLD. It's given directly into the fluid around the brain and spinal cord.

Will I definitely get the active treatment?

Yes, this is an 'open-label' study, which means everyone taking part will receive the active study medication, rhASA.

What kind of tests will I have if I join the study?

You'll have regular blood and urine tests, physical check-ups, and samples of the fluid around your brain and spinal cord (CSF) taken to check your health and how the treatment is working.

How long will the study last?

This is an 'extension' study, meaning it's checking long-term effects. The exact duration would be discussed by the study team, but it's designed to monitor participants over an extended period.