Duchenne Muscular Dystrophy News and Research

RSS

Duchenne muscular dystrophy (DMD) is a progressive muscle disorder that causes the loss of both muscle function and independence. DMD is perhaps the most prevalent of the muscular dystrophies and is the most common lethal genetic disorder diagnosed during childhood today. Each year, approximately 20,000 children worldwide are born with DMD (one of every 3,500 male children).

Single-patient pilot study shows the ability of antisense oligonucleotide to suppress mutant ALS gene

Using a short, synthetic chain of chemically modified nucleotides engineered in the RNA Therapeutics Institute at UMass Chan Medical School, Robert H. Brown Jr., DPhil, MD, Jonathan Watts, PhD, and colleagues have shown the ability to suppress mutant forms of an ALS gene known as C9ORF72 in a single-patient pilot study.

24 Dec 2021

New consensus-based recommendations designed to improve quality of life for DMD patients

Many more adults with Duchenne muscular dystrophy (DMD) are living longer thanks to improvements in treatment, however international standards of care have not yet fully addressed the complex needs of these patients.

9 Dec 2021

First pediatric-only guidelines for the use of pacemakers and implantable defibrillators

Children's Hospital Los Angeles cardiologist Michael Silka, MD, helped to pioneer the development of indications for the use of pacemakers and implantable defibrillators in young patients.

6 Dec 2021

Study shows long-term safety and biologic activity of golodirsen in DMD patients

This first-in-human study of golodirsen showed its long-term safety and biologic activity in patients with Duchenne Muscular Dystrophy (DMD). The approved exon-skipping therapy is designed to enable the production of functional dystrophin proteins, as described in the peer-reviewed journal Nucleic Acid Therapeutics.

1 Dec 2021

Researchers illustrate the importance and value of sharing negative research results

In the era of "publish or perish," research results that disprove the hypothesis tested often go unpublished. In addition, many researchers who have been unable to reproduce results from other laboratories have found it difficult to publish their findings.

18 Oct 2021

Parent Project Muscular Dystrophy successfully completes the Newborn Screening Pilot project

Parent Project Muscular Dystrophy (PPMD), a nonprofit organization leading the fight to end Duchenne muscular dystrophy (Duchenne), announced that the organization's Newborn Screening Pilot has successfully reached its completion, screening more than 36,000 babies born in New York State over the last two years.

8 Oct 2021

Specialized cells that keep the heart beating have ability to regenerate after birth, study reveals

Specialized cells that conduct electricity to keep the heart beating have a previously unrecognized ability to regenerate in the days after birth, a new study in mice by UT Southwestern researchers suggests.

7 Oct 2021

Early treatment with ACE inhibitors improves cardiac outcomes of patients with Becker muscular dystrophy

There is no consensus on when to introduce cardioprotective treatment in patients with Becker muscular dystrophy (BMD), and practice varies widely.

20 Sep 2021

New gene-delivering workhorse could make gene therapy safer, more effective for muscle diseases

Genetic muscle diseases lead to progressive muscle wasting and often early death, with few treatment options and no cure.

9 Sep 2021

A path to treat currently untreatable cases of cystic fibrosis is clearly achievable, study suggests

An experimental drug reported in Nature Communications suggests that a "path is clearly achievable" to treat currently untreatable cases of cystic fibrosis disease caused by nonsense mutations.

19 Jul 2021

Dying patients with rare diseases struggle to get experimental therapies

At 15, Autumn Fuernisen is dying. She was diagnosed at age 11 with a rare degenerative brain disorder that has no known cure or way to slow it down: juvenile-onset Huntington's disease.

14 Jul 2021

Anti-inflammatory nanoparticles could be applied to the weakening muscles of DMD patients

Muscular dystrophies are a group of genetic diseases that lead to the progressive loss of muscle mass and function in patients, with the incurable Duchenne Muscular Dystrophy (DMD), which affects all the body's muscles primarily in boys, being particularly severe.

25 Jun 2021

Intranasal COVID-19 therapeutic shows promise in preclinical trials

Researchers from the US and Denmark recently described a novel therapeutic option that targets the SARS-CoV-2 ribonucleic acid (RNA) using locked nucleic acid antisense oligonucleotides (LNA ASOs). They identified an LNA ASO that binds to the 5’ leader sequence of SARS-CoV-2 ORF1a/b. This disrupts a highly conserved stem-loop structure with nanomolar efficacy and inhibits viral replication in host cells.

20 May 2021

New gene therapy restores dystrophin protein in patients with Duchenne muscular dystrophy

UT Southwestern scientists successfully employed a new type of gene therapy to treat mice with Duchenne muscular dystrophy (DMD), uniquely utilizing CRISPR-Cas9-based tools to restore a large section of the dystrophin protein that is missing in many DMD patients.

3 May 2021

C-Path opens access to D-RSC database to accelerate therapy development for DMD

Critical Path Institute announced today that it will open access to the Duchenne Regulatory Science Consortium (D-RSC) database to qualified researchers, through its Rare Disease Cures Accelerator, Data and Analytics Platform.

22 Apr 2021

Genethon announces dosing of first patient at pediatric clinical trial platform for neuromuscular diseases

A first participant was dosed at I-Motion, the pediatric clinical trial platform for neuromuscular diseases located at Trousseau hospital in Paris, as part of the gene therapy trial in Duchenne muscular dystrophy (DMD) conducted by Genethon.

20 Apr 2021

Study may lead to new therapies for patients suffering from Duchenne muscular dystrophy

A new study, led by the University of California, Irvine (UCI), reveals how chronic inflammation promotes muscle fibrosis, which could inform the development of new therapies for patients suffering from Duchenne muscular dystrophy (DMD), a fatal muscle disease.

15 Apr 2021

A new hydrogel for treatment and recovery of muscle injuries

A team from the Universitat Politècnica de València (UPV) and the CIBER Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN) has designed and tested, at a preclinical level, a new biomaterial for the treatment and recovery of muscle injuries.

31 Mar 2021

Chemical cocktail shows promise for producing muscle stem cells

A UCLA-led research team has identified a chemical cocktail that enables the production of large numbers of muscle stem cells, which can self-renew and give rise to all types of skeletal muscle cells.

19 Mar 2021

FDA approval provides targeted treatment option for patients with rare DMD mutation

Today, the U.S. Food and Drug Administration granted approval for Amondys 45 (casimersen) injection for the treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 45 skipping (Exons are pieces of DNA that provide information for making proteins in a person's genome).

25 Feb 2021