Doctor Talking to Boy in Wheelchair_edited.jpg

Duchenne
muscular dystrophy

Duchenne Muscular Dystrophy (DMD) is a devastating genetic condition characterized by the absence of the muscle protein dystrophin. This absence triggers a relentless progression of muscle degeneration and weakness. By the age of 12, most DMD patients find themselves confined to a wheelchair, facing immense challenges in their daily lives. Despite the best efforts of palliative care, DMD has historically resulted in a tragically shortened lifespan.

However, the landscape is shifting. Thanks to ongoing research and the development of innovative treatments, there is newfound hope. Some individuals with DMD are now defying the odds, living into their 20s and beyond, a testament to the progress being made in this field.

Researchers are actively exploring a range of promising strategies. These include groundbreaking approaches such as gene therapy, exon skipping, stop codon read-through, and gene repair. Each avenue represents a beacon of hope for individuals and families affected by DMD, offering the potential for extended and improved quality of life.

HOW YOU CAN HELP

treatments and research news

EDG-5506: In November 2023, the FDA granted EDG-5506 Orphan Drug Designation (ODD) for the treatment of DMD. DEDG-5506 is an investigational orally administered small molecule designed to prevent contraction-induced muscle damage in dystrophinopathies.

AGAMREE: In October 2023, the FDA approved AGAMREE® (vamorolone) a dissociative steroid indicated for individuals diagnosed with Duchenne Muscular Dystrophy from age 2 years and older.

ELEVIDYS: In June 2023, through the Accelerated Approcal Pathway, the FDA granted approval of ELEVIDYS to treat people with Duchenne who are 4-5 years of age, able to walk, and do not have antibodies to AAVrh74.

AMONDYS 45: In February 2021, FDA granted accelerated approval to AMONDYS 45™ (casimersen), as a treatment of Duchenne in patients who have a confirmed mutation of the DMD gene that is amenable to exon 45 skipping.

VILTEPSO: In August 2020, Viltepso, an "exon skipping" drug that targets a section of DNA called exon 53. was approved by the FDA for treatment of individuals who have a confirmed mutation of the DMD gene that is amenable to a therapeutic strategy called exon 53 skipping and may help up to 8% of individuals with DMD.

VYONDYS 53: In December 2019, Vyondys 53, an "exon skipping" drug that targets a section of DNA called exon 53 was approved by the FDA for treatment of individuals who have a confirmed mutation of the DMD gene that is amenable to a therapeutic strategy called exon 53 skipping and may help up to 8% of individuals with DMD.

EMFLAZA: In February 2017, the FDA approved deflazacort (brand name Emflaza) to treat DMD.

EXONDYS 51: In September 2016, the FDA granted accelerated approval to eteplirsen (brand name Exondys 51) as the first disease-modifying drug for DMD.

For more information, Parent Project Muscular Dystrophy maintains an updated drug development pipeline web page.

What causes DMD?

The genetic change that causes Duchenne, a mutation in the DMD gene, happens before birth and can be inherited, or new mutations in the gene can occur spontaneously. This mutation prevents the body from producing dystrophin, a protein that muscles need to work properly. The dystrophin protein is the largest protein in the body, is found dispersed throughout the skeletal, cardiac and smooth muscle tissue. Without this protein, the muscles become increasingly weaker, until the body can no longer survive.

Why does DMD affect mostly boys?

Since the dystrophin gene is carried on the X-chromosome, the disease is either passed on by a mother who is a genetic carrier of the mutated dystrophin gene or is caused by a spontaneous mutation in the dystrophin gene after conception. This means that a mother carrying a healthy gene can give birth to a child with DMD. Because the dystrophin gene is carried on the X-chromosome, this disease usually affects boys, since girls have two X-chromosomes and can fall back on one if the other carries a faulty gene.

What are the signs of DMD
in infants?

An infant with DMD may appear to be floppy, with poor muscle control of the head and neck. He will present delayed motor milestones such as sitting up, crawling, standing, and walking. Other signs include using his hands to push on his legs to go from sitting to standing; a waddling gait; difficulty running, jumping, and climbing stairs; difficulty with motor skills; abnormal hypertrophy of calf muscles; and learning disabilities.

My child was diagnosed with DMD.
What should I do?

Although there is no cure yet, it's important to see a neurologist who is well versed in DMD and begin the treatment, delaflazacort (Emflaxa), as soon as the diagnosis is established.

Find out the exact genetic mutation. Based on the mutation, your child may be able to start on new treatments to slow the disease.

resources

There are many excellent resources for valuable information on daily living with DMD and clinical trials including:

JETT FOUNDATION: Empowers people and families impacted by DMD through the development of transformative programming, educational opportunities, and ongoing support for every stage of a Duchenne journey.

CHARLEY'S FUND: Supports the most compelling medical research and drives new solutions to translate promise into results.

CURE DUCHENNE: Funds groundbreaking research, early diagnosis and treatment access.

PARENT PROJECT MUSCULAR DYSTROPHY: Accelerates research, impacts policy, demands optimal care for every single family, and strives to ensure access to approved therapies.

Duchenne muscular dystrophy