John Crowley talks about what's needed in the "golden age" of drug development
posted on December 31, 2009 - 1:19am
John Crowley is the father of two children with Pompe disease (acid maltase deficiency). His quest to develop a drug to save their lives is chronicled in the movie "Extraordinary Measures," to be released by CBS Films in January 2010.
Crowley was interviewed for the Quest article "Heroes, Hope & Hollywood." Below are more of his thoughts on the "golden age" of drug development and how...
Thirty-eight new grants support research in ALS, central core disease, spinal muscular atrophy, muscular dystrophy, and other diseases in MDA's program
posted on August 17, 2010 - 6:39pm
MDA has awarded 38 new research grants totaling more than $14 million and covering more than a dozen neuromuscular diseases.
MDA's Board of Directors met in Los Angeles July 16, where it reviewed and approved the new grants based on recommendations from the MDA Scientific and Medical Advisory Committees. Grants were scored and recommended for approval based on the capabilities of the...
Researchers seek adults with nonspecific diagnoses of muscular dystrophy or myopathy, who might have late-onset Pompe disease
posted on August 27, 2010 - 2:30pm
A study to determine the early features of late-onset Pompe disease (acid maltase deficiency) is seeking 250 adults who have a clinical diagnosis of unclassified limb-girdle muscular dystrophy (LGMD), an uncertain diagnosis of other forms of muscular dystrophy (MD), or an unclassified myopathy (muscle disease) who do not carry any biochemical, metabolic, enzymatic, serologic (blood), molecular or
News about research in Charcot-Marie-Tooth disease, congenital myasthenic syndromes, Duchenne/Becker MDs, Friedreich's ataxia, Pompe disease and spinal-bulbar muscular atrophy
posted on February 10, 2011 - 11:09am
Charcot-Marie-Tooth disease
News briefs about research in Charcot-Marie-Tooth disease, hereditary inclusion-body myositis, limb-girdle muscular dystrophy, myotubular/centronuclear myopathies and Pompe disease
posted on March 31, 2011 - 10:20am
Charcot-Marie-Tooth disease
A two-year, large-scale trial of ascorbic acid (vitamin C) in people with type 1A Charcot-Marie-Tooth disease (CMT1A) conducted in Italy and the United Kingdom has found the substance had no significant effect on the disease compared with a placebo. Ascorbic acid was taken orally at 1.5 grams per day in this study. An ongoing U.S.-based trial (now closed to recruitment...
Some consensus, much controversy about diet in three metabolic diseases
posted on November 1, 2007 - 2:09pm
Mark Tarnopolsky, a professor of pediatrics and medicine at McMaster University in Hamilton, Ontario, remembers clearly a patient he saw more than a decade ago, when he first began specializing in metabolism and nutrition.
The patient was an 8-year-old boy who had rapidly become weak and eventually almost completely paralyzed after exercising. His muscles were breaking down, spilling a protein...
posted on March 1, 2003 - 12:58pm
You may never have heard of Pompe’s disease. It affects just 5,000 to 10,000 people in the United States, making it exceedingly rare and of little interest to the general public. But what it lacks in notoriety, it makes up for in personal devastation to those who have it.
"Lumizyme has stopped the progression of my disease," says one of first to receive the drug since the FDA granted commercial approval
posted on June 21, 2010 - 4:25pm
Monique Griffin of Orlando, Fla., was one of the first in the nation to receive the commercially available treatment Lumizyme for acid maltase deficiency (AMD, or Pompe disease).
MDA's research program in 2010
posted on December 31, 2009 - 1:10am
As MDA's research program heads into 2010, new directions, strategies and partnerships are under way.
All have the ultimate goal of moving research through the “pipeline” from basic science discoveries in university laboratories, to biotechnology development, and ultimately into viable therapies that can be prescribed in the clinic.
Below are examples of how this “pipeline” research approach is...
Quest takes a look at gene therapy, 'antisense' and other cutting-edge scientific approaches and how they're being applied to diseases in MDA's program
posted on July 1, 2011 - 4:15pm
Antisense oligonucleotides block flawed genetic instructions
Antisense oligonucleotides — also called antisense, oligos, or simply AONs — are pieces of genetic code that keep other genetic code from being processed. Designed to pair up with a particular sequence of DNA or RNA, AONs can change, block or destroy targeted genetic instructions in a variety of ways.
