Active not recruitingPHASE1, PHASE2INTERVENTIONAL

Safety, Tolerability, Pharmacodynamic, Efficacy, and Pharmacokinetic Study of DYNE-251 in Participants With Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping

This research study is investigating a new medication called DYNE-251 for boys between 4 and 16 years old who have Duchenne Muscular Dystrophy (DMD). Specifically, it's for boys whose particular type of DMD might benefit from a treatment approach called 'exon 51 skipping'. The main goals are to check if DYNE-251 is safe, how well people tolerate it, and if it helps increase levels of an important muscle protein called dystrophin. Participants will receive either DYNE-251 or a dummy medicine (placebo) first, followed by a period where everyone gets DYNE-251, and then a possible long-term treatment period. This helps researchers understand the medicine's effects over time.

At a glance

Status

Active not recruiting

Phase

PHASE1, PHASE2

Sponsor

Dyne Therapeutics

Enrolment target

Start

12 Aug 2022

Estimated completion

01 Nov 2029

Duchenne Muscular Dystrophy (DMD)

What is this study about?

Duchenne Muscular Dystrophy (DMD) is a genetic condition that causes muscles to weaken over time. It's caused by a change in a gene that's responsible for making a protein called dystrophin, which is vital for keeping muscle cells healthy. Without enough dystrophin, muscles get damaged and become weaker.

This study is looking at a new medicine called DYNE-251. It's designed for boys with a specific type of DMD where the gene fault means their body could benefit from a special genetic 'editing' process called 'exon 51 skipping'. The idea behind exon 51 skipping is to teach the body how to make a shorter, but still working, version of the dystrophin protein, which could help protect muscles.

The main purpose of this study is to carefully check if DYNE-251 is safe to use and if people can take it without too many problems. Researchers also want to see if this medicine actually helps the body produce more dystrophin protein in muscle tissue. This research is a 'Phase 1/2' study, which means it's an early-stage study that focuses on safety and how the body reacts to the medicine, while also looking for early signs of how well it works. Understanding these things is a crucial step in developing new treatments for DMD.

Key takeaways

This study investigates a new medicine, DYNE-251, for Duchenne Muscular Dystrophy.
It's for boys aged 4-16 with a specific genetic fault (amenable to exon 51 skipping).
Main goals are to check safety, tolerability, and dystrophin protein levels.
Participants will receive either DYNE-251 or a dummy medicine first, then DYNE-251 for longer.
Regular clinic visits, blood tests, and muscle biopsies are part of the study.
Participation is voluntary, and you can withdraw at any time.

Who may be eligible?

To join this study, participants must be male and between 4 and 16 years old. They need to have a confirmed diagnosis of Duchenne Muscular Dystrophy (DMD) with a specific genetic change that shows their condition could potentially benefit from 'exon 51 skipping' treatment. They also need to have healthy enough heart function and have been taking a stable dose of steroid medication for at least 12 weeks.

There are also some reasons why someone couldn't join. For example, if they have uncontrolled heart failure, have had major surgery recently, or need help breathing with a ventilator during the day. Also, if they've recently taken other experimental DMD medicines or have ever received gene therapy, they wouldn't be able to participate. Researchers will also need to be able to safely take a small muscle sample (biopsy) from the arm.

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.

Are you male and between 4 and 16 years old?
Do you have a confirmed diagnosis of DMD that could benefit from 'exon 51 skipping'?
Have you been on a stable dose of steroid medicine for at least 12 weeks?
Do you have healthy enough heart function?
Are you able to have a small muscle sample taken from your arm?
Have you *not* had gene therapy or certain other experimental DMD medicines recently?

Answer every question to see your result.

What does participation involve?

If you join this study, it's split into three main parts. First, for 24 weeks, you'll either receive DYNE-251 or a dummy medicine (placebo) given directly into a vein. Neither you nor your doctor will know which you are getting during this part. After that, everyone will receive DYNE-251 for another 24 weeks. Finally, there's an option to continue receiving the medication for a longer period, up to about four years.

Throughout the study, you'll have regular visits to the clinic for check-ups, blood tests, and other assessments like heart scans and muscle biopsies. These help the doctors monitor your health, how you're reacting to the medicine, and if it's having any effect. The total duration of participation if you complete all parts could be quite long, possibly over four years, but each period has a set length.

Potential risks and benefits

Participating in a study like this could offer potential benefits, such as access to a new experimental medicine that might help increase dystrophin levels and improve muscle health. However, there's no guarantee that you will personally benefit. As with any medicine, there are potential risks, including side effects from the study drug itself, discomfort from clinic visits, injections, blood tests, and muscle biopsies. The study team will closely monitor your health for any problems. Remember, joining a study is always voluntary, and you have the right to withdraw at any time, for any reason, without it affecting your medical care.

Locations (30)

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

University of California San Diego
Verified postcode
La Jolla, United States
UCLA University California of Los Angeles
Verified postcode
Los Angeles, United States
Children's Hospital Colorado
Verified postcode
Aurora, United States
Rare Disease Research, LLC
Verified postcode
Atlanta, United States
UMass Memorial Medical Center
Verified postcode
Worcester, United States
Nationwide Children's Hospital
Verified postcode
Columbus, United States
Shriners Hospitals for Children Portland
Verified postcode
Portland, United States
Children's Hospital of Philadelphia
Verified postcode
Philadelphia, United States
UPMC Children's Hospital of Pittsburgh
Verified postcode
Pittsburgh, United States
University of Utah - PPDS
Verified postcode
Salt Lake City, United States
Virginia Commonwealth University
Verified postcode
Richmond, United States
Children's Hospital at Westmead
Verified postcode
Westmead, Australia

Common questions

What is 'exon 51 skipping'?

Exon 51 skipping is a way to 'edit' the genetic instructions in your body to help make a slightly shorter, but still working, version of the dystrophin protein that muscles need.

What is a placebo?

A placebo is a dummy medicine that looks exactly like the real study drug but contains no active ingredients. It helps researchers compare the effects of the actual medicine.

How will the medicine be given?

The study medicine (DYNE-251) will be given directly into a vein, usually in your arm. This is called an intravenous (IV) infusion.

Will I have to have a muscle biopsy?

Yes, part of this study involves taking small muscle samples (biopsies) from your arm to see how the medicine is affecting dystrophin levels.

Can I still take my regular steroids?

Yes, you generally need to be on a stable dose of your regular steroid medication for at least 12 weeks before joining, and you'll continue taking it during the study.