Four children not making any acid maltase enzyme tolerated enzyme replacement therapy when also treated with immunosuppressants
posted on January 16, 2012 - 6:00am
Editor's note 2/2/12: This story was updated to reflect the award of a new MDA grant to Eric Sjoberg at Amicus Therapeutics.
Drugs that suppress the immune system can successfully prevent or reverse rejection of enzyme replacement therapy in Pompe disease (acid maltase deficiency), a new study has shown.
Enrollment is open for a trial of AT2220, a drug designed to enhance the effects of enzyme replacement therapy in people with acid maltase deficiency
posted on December 19, 2011 - 1:10pm
The biopharmaceutical company Amicus Therapeutics is testing its experimental drug AT2220 in combination with enzyme replacement therapy in people with Pompe disease (acid maltase disease, or AMD).
Clinical trial testing experimental enzyme replacement drug in people with Pompe disease who are at least 13 years old
posted on November 8, 2011 - 10:08am
BioMarin Pharmaceutical is seeking participants for a clinical trial testing the safety and tolerability of its experimental drug BMN701 in adolescents and adults with late-onset Pompe disease (acid maltase deficiency). The trial is being conducted in California, Kansas and Florida.
Research items about Friedreich's ataxia, myasthenia gravis, mitochondrial myopathies, type 1 myotonic dystrophy, gene therapy and gene modification
posted on July 7, 2011 - 10:28am
Edison drugs target FA, mitochondrial diseases
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.
Short research news items about Friedreich's ataxia; Pompe disease; spinal muscular atrophy; and Becker, Duchenne, Emery-Dreifuss, limb-girdle and oculopharyngeal MDs
posted on May 16, 2011 - 2:41pm
Idebenone may help maintain respiratory function in DMD
Santhera Pharmaceuticals announced May 9, 2011, that its drug Catena (generic name idebenone) appears to slow the decline in respiratory function associated with aging in people with Duchenne muscular dystrophy (DMD). Idebenone may improve energy production in muscle and nerve cells.
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...
