Quest Magazine

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.

Sizing Up Early Enzyme Replacement for Pompe Disease

A study of 11 children with infantile-onset Pompe disease (acid maltase deficiency) who started enzyme replacement therapy by the time they were 6 months old has shown the treatment can markedly improve the course of the disease, but that residual deficits persist.

ALS, SMA Share a Biochemical Pathway

New evidence links the motor neuron diseases ALS (amyotrophic lateral sclerosis) and spinal muscular atrophy (SMA), an international team of scientists has reported. The researchers say the findings could lead to the identification of therapeutic targets common to both disorders.

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.

SMA: Repligen Launches Phase 1b Trial of RG3039

The experimental drug RG3039, being developed by Repligen Corp. of Waltham, Mass., as a potential treatment for spinal muscular atrophy (SMA), has moved into its next phase of testing.

RG3039 previously was tested in a phase 1a trial, in which healthy adult volunteers received a single dose of the drug. Now, in a phase 1b trial, healthy volunteers will receive multiple doses of the drug.

ALS-FTD Research Briefs: P62 Gene’s Role and Screening Tool for ALS-FTD

The most visible symptom in amyotrophic lateral sclerosis (ALS) is progressive weakness and loss of muscle control due to the loss of nerve cells called motor neurons. But approximately half of all people with ALS also exhibit some symptoms of cognitive impairment and associated behavioral symptoms (frontotemporal dementia, or FTD) at some stage of their disease.

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