Active not recruitingPHASE2INTERVENTIONAL

A Study of Intrathecal SHP611 in Children With Metachromatic Leukodystrophy

This study is investigating a new medicine called SHP611 for children diagnosed with Metachromatic Leukodystrophy (MLD). The main goal is to find out if SHP611, when injected directly into the fluid surrounding the brain and spinal cord, can help children keep their ability to walk and move around for a longer time. Researchers will also be observing how this medicine affects a child's movement and speech. Another important aim is to understand how well children tolerate the medicine and if there are any side effects. Children taking part in the study will receive SHP611 for around two years, with the possibility of continuing treatment for longer if the study shows it to be helpful.

At a glance

Status

Active not recruiting

Phase

PHASE2

Sponsor

Shire

Enrolment target

Start

13 May 2019

Estimated completion

01 May 2026

Metachromatic Leukodystrophy (MLD)

What is this study about?

This study is looking at a new approach to treating Metachromatic Leukodystrophy (MLD) in children. MLD is a rare genetic condition that affects the brain and nervous system, making it difficult for children to move, speak, and learn over time. Currently, there isn't a cure, so researchers are constantly working to find treatments that can help.

The medicine being tested in this study is called SHP611. It's given through an injection directly into the fluid that surrounds the brain and spinal cord, which is known as 'intrathecal' delivery. This method is used because it helps the medicine reach the areas where it's needed most to hopefully slow down the progression of the disease.

The main purpose of this study is to see if SHP611 can help children with MLD keep their ability to move around independently for a longer period. The researchers will also be carefully monitoring other important aspects of a child's health, such as their ability to speak and their overall movement. It's also very important to find out if SHP611 is safe and well-tolerated by children.

Key takeaways

This study explores a new medicine (SHP611) for children with MLD.
The medicine is given by injection into the spinal fluid.
The main goal is to help children keep their ability to move for longer.
Researchers will also check its effects on speech and safety.
Participation lasts about two years, with possible extension.

Who may be eligible?

To join this study, children must have a formal diagnosis of Metachromatic Leukodystrophy (MLD). This means tests would have shown specific changes in their blood (low ASA activity) and urine (high sulfatides).

Children need to be within a specific age range, generally between 6 months and 6 years old, depending on their specific MLD symptoms. They must also have certain levels of symptoms. For some, this means having difficulty walking due to MLD by 2 and a half years old. Others might be very young (6 to under 18 months), showing very few symptoms, but having the same MLD gene changes as an older child in their family. Another group might be between 12 and under 18 months old, showing early MLD symptoms, but having previously been able to walk steadily.

Finally, parents or legal guardians must be able to follow the study schedule and must give their written permission for their child to take part.

Quick self-check

Does my child have a confirmed MLD diagnosis?
Is my child between 6 months and 6 years old (age varies by specific MLD symptoms)?
Does my child meet certain criteria for MLD symptom severity or progression?
Can I commit to following the study's schedule of appointments and procedures?
Am I able to give informed consent for my child to participate?

This is a guide only — the research team will confirm whether you can take part.

What does participation involve?

If your child takes part in this study, they will receive the study medicine, SHP611, for about two years. There might be a chance to continue receiving the medicine for a longer time after this initial period. The medicine will be given by injection directly into the fluid around the brain and spinal cord.

Throughout the study, there will be regular visits to the clinic so that doctors can carefully monitor your child's health, track their movement and speech, and check for any changes or side effects. These assessments help the research team understand how the medicine is working and how your child is responding. You'll be given a detailed schedule of visits and what each visit will involve.

Potential risks and benefits

Taking part in any medical study has both potential benefits and risks. While SHP611 is being studied to see if it can help slow down the progression of MLD and improve movement and speech, there's no guarantee it will work for every child. There might also be side effects from the medicine or the procedures, like the spinal injections. The study team will explain all known risks to you. You have the right to withdraw your child from the study at any time, for any reason, without affecting their future medical care.

Locations (30)

Los Angeles Biomedical Research Institute at Harbor-UCLA
Torrance, United States
Childrens Hospital Colorado
Aurora, United States
Rare Disease Research, LLC
Atlanta, United States
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, United States
University of Iowa Stead Family Children's Hospital
Iowa City, United States
Mayo Clinic - PPDS
Rochester, United States
New York University Langone Medical Center
New York, United States
Cincinnati Children's Hospital Medical Center
Cincinnati, United States
Children's Hospital of Philadelphia
Philadelphia, United States
Children's Hospital of Pittsburgh
Pittsburgh, United States
University of Utah
Salt Lake City, United States
Hospital Universitario Austral - PIN
Ciudad Autónoma Buenos Aires, Argentina

+18 more sites — see the official record for the full list.

Common questions

What is Metachromatic Leukodystrophy (MLD)?

MLD is a rare genetic disease that affects the brain and nervous system, leading to problems with movement, speech, and other abilities over time.

What is SHP611?

SHP611 is the experimental medicine being tested in this study. It's hoped it can help children with MLD.

How is SHP611 given?

It's given as an injection into the fluid that surrounds the brain and spinal cord, similar to a lumbar puncture.

How long will my child be in the study?

Children will receive the medicine for about two years, and there might be an option for longer treatment.

Is this medicine available to everyone?

No, SHP611 is an investigational medicine, which means it's still being studied and is not yet available outside of clinical trials.