Active not recruitingPHASE3INTERVENTIONAL

A Study to Compare Safety and Efficacy of High Doses of Eteplirsen in Participants With Duchenne Muscular Dystrophy (DMD) (MIS51ON)

This study, called MIS51ON, is exploring new, higher doses of a medication called eteplirsen for boys aged 4 to 13 with Duchenne muscular dystrophy (DMD). The first part will test the safety of two higher doses (100mg/kg and 200mg/kg) in a small number of participants. The second part will then compare how well these higher doses work and their safety against the standard 30mg/kg dose in a larger group of boys. The aim is to see if these increased doses can more effectively help boys whose DMD is caused by a specific genetic change (exon 51 skipping) to maintain muscle strength and function.

At a glance

Status

Active not recruiting

Phase

PHASE3

Sponsor

Sarepta Therapeutics, Inc.

Enrolment target

160

Start

13 Jul 2020

Estimated completion

31 Oct 2026

Muscular Dystrophy, Duchenne

What is this study about?

This study is investigating a medication called eteplirsen, which is used to treat Duchenne muscular dystrophy (DMD). DMD is a serious genetic condition that causes muscles to become weaker over time. Eteplirsen works by helping the body produce a more complete version of a protein called dystrophin, which is vital for healthy muscles. For eteplirsen to be helpful, a boy must have a specific type of genetic change in his DMD gene, known as an 'exon 51 skipping amenable' mutation.

The researchers want to see if giving higher doses of eteplirsen – specifically 100 milligrams per kilogram (mg/kg) and 200 mg/kg – is both safe and more effective than the current standard dose of 30 mg/kg. The study is divided into two main parts. The first part is a smaller safety check of the higher doses, while the second part will compare these higher doses to the standard dose in more participants to see if they make a real difference in managing the condition.

The overall goal of this research is to potentially improve the treatment options available for boys with DMD. By understanding if higher doses of eteplirsen can lead to better outcomes, the study hopes to offer new possibilities for slowing the progression of this challenging condition and helping boys maintain a better quality of life.

Key takeaways

This study is testing higher doses of eteplirsen for Duchenne muscular dystrophy (DMD).
It's for boys aged 4-13 with a specific genetic type of DMD.
The aim is to see if higher doses are safer and work better than the current dose.
Participation involves receiving medication and regular check-ups.
Potential benefits include access to new dose levels; risks include potential side effects.
You can withdraw from the study at any time.

Who may be eligible?

Most importantly, this study is for boys between 4 and 13 years old who have a clear diagnosis of Duchenne muscular dystrophy (DMD). Crucially, their DMD must be due to a specific type of genetic change that eteplirsen is designed to help, often called 'amenable to exon 51 skipping'. They also need to be able to walk by themselves without any walking aids and be able to get up from the floor in 10 seconds or less. They should also be taking a steady dose of a steroid medication.

There are also some important rules about other medications; for instance, participants shouldn't have recently used other experimental DMD treatments, with some specific exceptions. They also shouldn't have had major surgery recently, or have other significant muscle or genetic conditions. Participants need to have healthy kidney function, and no serious heart problems like weak heart muscles.

For those aged 7 and older, their breathing should be stable, and they shouldn't need a breathing machine at night. For younger boys (4-6 years), they shouldn't need any breathing support at all when they start the study.

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 a boy aged between 4 and 13?
Does your child have a definite diagnosis of DMD with a specific genetic change that can be treated by 'exon 51 skipping'?
Can your child walk independently without help?
Can your child stand up from the floor in 10 seconds or less?
Has your child been on a stable dose of steroids for at least 12 weeks?
Does your child have good general health, including healthy kidneys and no major heart problems?

Answer every question to see your result.

What does participation involve?

If you decide to take part, your child will receive regular doses of eteplirsen, likely through an infusion, over a period of time. This study is split into two parts: the first part focuses on checking the safety of the new higher doses, involving about 10 boys. The second part will then compare how effective and safe these higher doses are against the usual dose in around 144 boys. This will involve regular visits to the clinic for various assessments, such as physical examinations, tests of muscle function (like timing how long it takes to stand up from the floor), and potentially blood tests or heart checks. The total duration of participation in the study is not specified in this summary, but clinical trials typically involve several months to a year or more of active treatment and follow-up.

Potential risks and benefits

Taking part in a clinical trial may offer potential benefits, such as access to a new dose of medication that could be more effective in managing Duchenne muscular dystrophy than current treatments. However, there are also potential risks, as higher doses of any medication could lead to new or more intense side effects. These risks will be carefully monitored by the study team. You will be fully informed of all known side effects and risks before making a decision. It is important to remember that participation is completely voluntary, and you have the right to withdraw your child from the study at any time, for any reason, without it affecting their future medical care.

Locations (59)

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

University of Alabama at Birmingham
Verified postcode
Birmingham, United States
University of Florida
Verified postcode
Gainesville, United States
Rare Disease Research, LLC
Verified postcode
Atlanta, United States
Hospital Universitario San Ignacio
Verified postcode
Bogotá, Colombia
Instituto Neurologico de Colombia (INDEC)
Verified postcode
Medellín, Colombia
Hospital Pablo Tobón Uribe
Verified postcode
Medellín, Colombia
Brno Klinika detske neurologie
Verified postcode
Brno, Czechia
Fakultni nemocnice v Motole
Verified postcode
Prague, Czechia
Rigshospitalet Copenhagen University Hospital
Verified postcode
Copenhagen, Denmark
Hopital Femme Mere Enfant
Verified postcode
Bron, France
Hopital Armand Trousseau
Verified postcode
Paris, France
CHRU de Strasbourg
Verified postcode
Strasbourg, France

Common questions

What is Duchenne muscular dystrophy (DMD)?

DMD is a genetic condition that causes muscles to weaken over time, leading to difficulties with movement and other health issues.

What is eteplirsen?

Eteplirsen is a medication approved to treat some cases of DMD. It works by targeting a specific genetic fault to help the body make a crucial muscle protein.

What does 'exon 51 skipping amenable' mean?

This refers to the specific genetic mutation in DMD that eteplirsen is designed to treat. If a boy's DMD is due to this particular mutation, eteplirsen might be suitable for him.

Why are higher doses being studied?

Researchers want to see if giving a higher amount of the medication could lead to better outcomes or slow down the progression of DMD more effectively.

Are there other treatment options for DMD?

Yes, there are other treatments and supportive care available for DMD. This study is exploring a specific aspect of eteplirsen treatment.