Active not recruitingPHASE1INTERVENTIONAL

Administration of MELPIDA to Determine the Safety and Efficacy for Patients With Spastic Paraplegia Type 50

This study focuses on a new treatment called MELPIDA for a rare genetic condition known as Spastic Paraplegia Type 50 (SPG50), which mainly affects muscle control. This is the very first time this treatment is being given to a person. Researchers want to see if MELPIDA is safe and well-tolerated. They will also start to explore if it helps improve the condition. MELPIDA is given through a special injection into the fluid surrounding the spinal cord. The study will involve one young child aged under 5 with SPG50 and will last for five years. Regular check-ups will monitor the child's health and any changes in their condition.

At a glance

Status

Active not recruiting

Phase

PHASE1

Sponsor

The Hospital for Sick Children

Enrolment target

Start

11 Mar 2022

Estimated completion

01 Mar 2027

Spastic Paraplegia Type 50

What is this study about?

Imagine your body has a tiny instruction book, your genes, that tells it how to work. In Spastic Paraplegia Type 50 (SPG50), there's a specific mistake in one of these instructions (called the AP4M1 gene). This mistake leads to problems with muscle control, causing stiffness and weakness, especially in the legs. It's a very rare condition, and currently, there isn't a specific treatment to fix the underlying gene problem.

This study is looking at a new approach called MELPIDA. Think of MELPIDA as a special delivery system designed to carry a correct copy of the AP4M1 gene into the body. The hope is that by replacing the faulty instruction, the body's cells might start working properly again. This treatment is given gently into the fluid surrounding the spinal cord, which is like the body's main electrical cable.

Because this is the very first time MELPIDA is being used in people, the main goal is to make sure it's safe and doesn't cause any serious side effects. The medical team will be watching closely to see how the participant's body reacts. They will also begin to see if the treatment has any positive effects on the condition itself. This type of study, called a Phase 1 trial, is a crucial first step in developing new medicines for rare diseases.

Key takeaways

This is a first-in-human trial of MELPIDA for SPG50.
The main goal is to test the safety of MELPIDA.
It aims to deliver a correct gene copy into the spinal fluid.
The study involves a single boy under 5 years old.
Participation includes a single treatment and 5 years of follow-up.
It's an early-stage study for a rare genetic condition.

Who may be eligible?

To be considered for this study, the participant must be a boy under 5 years old. He needs to have received a clear diagnosis of SPG50, confirmed by genetic tests showing specific changes in his AP4M1 gene, and also show signs of the condition that affect his brain and nerves.

Parents or legal guardians must be willing to give permission for their child to take part and make sure they can attend all the necessary appointments and follow the study's instructions.

There are also reasons why someone might not be able to join. These include having other health problems that could make the procedure risky, such as issues with blood clotting or infections. If the child can't safely have specific medical tests or procedures like an MRI or the spinal injection, or is already taking part in another study, they wouldn't be able to join this one.

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 the child currently under 5 years old?
Has a doctor confirmed the child has SPG50 through genetic testing?
Are you able to agree to all study visits and procedures for five years?
Does the child have any other serious medical conditions or infections?
Has the child recently taken part in another research study involving new medicines?

Answer every question to see your result.

What does participation involve?

If your child takes part, they will receive a single dose of the MELPIDA treatment. This will be given through a special injection into the fluid around their spinal cord, similar to an epidural, while they are carefully sedated.

Before the treatment, there will be a screening visit (up to 28 days before and at least 7 days before the treatment) to ensure everything is safe to proceed. After the treatment, there will be regular check-ups, some quite close together at 7, 30, 60, 90, 180, 270, and 360 days post-treatment. Then, the visits will become less frequent, with appointments at 540 and 720 days, and finally yearly visits for three more years. The total study will last for five years after the treatment is given. These visits will involve various tests and assessments to monitor your child's health and the effects of the treatment.

Potential risks and benefits

The potential benefit of this study is the possibility that MELPIDA could help to improve the symptoms of SPG50 or slow down its progression, though this is the first time it's being tested in humans, so we don't know for sure. As with any medical procedure, there are potential risks. Giving the treatment might cause side effects, either from the injection itself (like headaches or discomfort) or from the MELPIDA treatment. The medical team will monitor your child very closely for any issues, and you have the right to withdraw your child from the study at any time, for any reason, without it affecting their ongoing healthcare.

Locations (1)

The Hospital for Sick Children
Verified postcode
Toronto, Canada

Common questions

What is SPG50?

SPG50 is a rare genetic condition causing muscle stiffness and weakness, mostly in the legs, due to a faulty gene.

What is MELPIDA?

MELPIDA is a new experimental treatment designed to deliver a correct copy of the faulty gene that causes SPG50.

How is the treatment given?

The treatment is given as a single injection into the fluid that surrounds the spinal cord, called an intrathecal injection.

How long does the study last?

The study lasts for a total of five years from when the treatment is given, with regular follow-up visits.

Who can participate?

This study is for a boy under 5 years old with a confirmed diagnosis of SPG50.

How to find out more

Official trial record

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