Muscular Dystrophies

DMD: Reformulated Utrophin Upregulator Looks Good in Healthy Volunteers

Update (Nov. 7, 2012): In a Nov. 7, 2012, press release, Summit PLC announced that twice-daily oral dosing of SMT C1100 in healthy volunteers appears safe and well-tolerated, and results in blood levels of the drug that would be expected to increase utrophin production.

CMD, LGMD: 'Conditional Knockout' Mouse Will Help Researchers Study Fukutin Deficiency

By disrupting the fukutin gene at different time points in mice embryo, researchers have been able to develop research models of two types of human muscle disease: Fukuyama congenital muscular dystrophy (Fukuyama CMD)  and type 2M limb-girdle muscular dystrophy (LGMD2M).

DMD Imaging Study Open at Three Sites

A multicenter study of the use of magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) to measure the progression of Duchenne muscular dystrophy (DMD) is open at sites in Florida, Oregon and Pennsylvania for boys with DMD who meet study criteria.

A Closer Look at the 48-Week Eteplirsen Trial Results

Editor's note (Oct. 26, 2012): This story has been modified to note that it's possible for the U.S. Food and Drug Administration to give conditional approval to a promising rare-disease drug prior to a larger confirmatory trial being performed.

DMD: Eteplirsen Results Very Encouraging at 48 Weeks

Editor's note (Oct. 3, 2012): Please read A Closer Look at the 48-Week Eteplirsen Trial Results for a more in-depth discussion of the phase 2b trial in boys with Duchenne MD.

Study of Tadalafil in BMD Revised, Reopened

Update (Nov. 9, 2012): This story has been updated to reflect that recruitment for this study ends Dec. 31, 2012.

An MDA-supported, short-term trial of the vasodilating drug tadalafil (Cialis) in teens and men with Becker muscular dystrophy (BMD) has undergone some minor restructuring and is now open to 12 additional participants.

Study Recruiting People with LGMD2B or Miyoshi Myopathy

A new, multinational study of type 2B limb-girdle muscular dystrophy (LGMD2B) and Miyoshi myopathy— both of which result from mutations in the gene for the muscle protein dysferlin and are known as dysferlinopathies or dysferlin deficiency — is inviting people with either disorder to participate.

MDA Muscle Symposium: Newborn Screening in DMD

Update (Feb. 8, 2013): Longtime MDA grantee Jerry Mendell, who directs the Center for Gene therapy at Nationwide Children's Hospital in Columbus, Ohio, published Report of MDA Muscle Disease Symposium on Newborn Screening for Duchenne Muscular Dystrophy in Muscle & Nerve, Feb. 8, 2013.

DMD Briefs: Stopping Inflammation on Earth and in Space

Inflammation— the immune system's first line of defense in tissue that's been damaged by injury or infection — is a good example of a process that's a good thing up to a point and under certain circumstances and a bad thing in excess or under the wrong circumstances.

IGF1 Shows Benefit in SBMA Mice

Mice with a disease resembling spinal-bulbar muscular atrophy (SBMA, or Kennedy disease) that were treated with a compound based on insulin-like growth factor 1 (IGF1) had better motor function, slower weight loss, healthier muscles and longer survival time than mice that received an inactive substance, an MDA-supported research team has reported.

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