Quest Magazine

Gentamicin Trial in DMD Shows Mixed Results

An MDA-supported clinical trial of intravenous gentamicin in children and adolescents with a form of Duchenne muscular dystrophy (DMD) caused by so-called "nonsense" mutations (also called "premature stop codon" mutations) found the drug was safe and that levels of the muscle protein dystrophin increased in some, but not all, participants who received the drug for six months.

Health Care Changes Coming

The newly signed Patient Protection and Affordable Care Act, a dramatic reform of the health care system, contains numerous benefits for families living with neuromuscular disease. 

The legislation, approved this week by both Houses of Congress, has features taking effect over the next several months that have implications for people with disabilities. These include expansion of insurance coverage for children and young adults, a ban on insurers' ability to place lifetime caps on coverage, and passage of a long-term care option known as the CLASS Act.

DMD Research: Potential Heart Saver

A synthetic compound that seals cellular membranes has been found to stop the progression of heart-muscle destruction in dogs with a disease closely resembling human Duchenne muscular dystrophy (DMD), MDA-supported researchers have found.

Lumizyme on the Horizon

Biotechnology company Genzyme, of Cambridge, Mass., expects the U.S. Food and Drug Administration (FDA) to rule by June 17, 2010, on Genzyme's application to market its laboratory-developed enzyme Lumizyme (alglucosidase alfa) in the United States.

Lumizyme and its near-twin, Myozyme, replace the acid maltase enzyme deficient in people with Pompe disease (acid alpha-glucosidase deficiency or acid maltase deficiency)

SMA Research: Saving Shortened SMN Protein

A research team at the University of Pennsylvania in Philadelphia has characterized the mechanism responsible for rapid decay of the survival of motor neurons (SMN) protein that is encoded by the human SMN2 gene and which plays a key role in a variety of therapeutic strategies under development for spinal muscular atrophy (SMA)

Rising to the Challenge

In the documentary “Waiting to Rise,” Rob Roozeboom’s small son asks him, “Dad, why do you walk like that?”

“Because I have muscular dystrophy, son,” he answers.

The boy is unconvinced. “Penguins walk like that,” he observes, “but they don’t have muscular dystrophy.”

At this stage of his life, Roozeboom, 33, can laugh uproariously at that assessment. But as a boy himself, and later as a teen, his disability was no laughing matter.

Cash and Counseling Takes Hold

Cash and Counseling, a government program that gives Medicaid recipients in 15 states direct control over their personal-care spending, has been so successful that a majority of states are now adopting it or similar programs. A new report tells why and how.

Get to Work!

The Social Security Administration (SSA) and other service providers have launched several new Web sites for people with disabilities who want to work.

The Choose Work site contains first-person accounts by people who have used the SSA's work incentives; videos, including a seminar on work incentives; help finding local resources; and more. The site can be found at

Gene Therapy Book by MDA Grantee

MDA grantee Dongsheng Duan has published a book on the latest advances in gene therapy for muscle disease, particularly muscular dystrophies.

Duan, a professor of microbiology and immunology at the University of Missouri, served as editor of the book Muscle Gene Therapyand co-authored two of its 15 chapters. Duanis currently researching gene transfer therapy in dogs.

About the new book

ALS SOD1 Trial: A ‘Watershed Moment’

Isis Pharmaceuticals of Carlsbad, Calif., has begun a phase 1 clinical trial of its experimental compound ISIS-SOD1-Rx in people with familial (inherited) ALS caused by toxic SOD1 protein molecules.