PTC 124

[michelle scaglione]

Dear David

I have a question I hope you can answer. On PPMD they posted the Aisan conference report about PTC 124. They spoke of real stop codons and new stop codons. It said PTC 124 reads through new stop codons and not real stop codons. What does that mean? My son has a premature stop codon on exon 10 so Im concerned if the drug would still work for him.

Thank you
Michelle

[David Feder]

The synthesis of proteins is made by reading the DNA. The DNA of every cell and every people has a real stop codon to show where the copy must stop. PTC-124 don't act in real stop codon: this is good information; if the drugs act in real stop codon would change the synthesis of all proteins of the body. The effect is only in new stop codon, related with diseases as DMD, cystic fibrosis, etc.
Real stop codon is end of a sentence as a dot.

[michelle scaglione]

Thank you David for answering my question. I understand now.

Michelle

[varghakata]

Dear David.
I read this arical about Albuterol,what Your opinion ?
Neurology. 2008 Jan 8;70(2):137-43. Epub 2007 Oct 17.Click here to read Links
Albuterol increases lean body mass in ambulatory boys with Duchenne or Becker muscular dystrophy.
Skura CL, Fowler EG, Wetzel GT, Graves M, Spencer MJ.

David Geffen School of Medicine at UCLA, 635 Charles Young Drive South, NRB1 Room 401, Los Angeles, CA 90095-7334, USA.

BACKGROUND: Albuterol is a beta-2 agonist that has been demonstrated to increase muscle strength in studies in animals and humans. Based on a pilot study of extended-release albuterol Repetabs in children with dystrophinopathies, the authors conducted a randomized, double-blind, placebo-controlled study with a crossover design. METHODS: Fourteen boys with Duchenne or Becker muscular dystrophy, 6 to 11 years old, completed two treatment periods (albuterol and placebo), 12 weeks each, separated by a 12-week washout period. As the albuterol Repetab formulation was no longer available, an alternate extended release albuterol was used (Volmax, 12 mg per day). Outcome measurements included 1) lean body mass, 2) fat mass, 3) isometric knee extensor and flexor moments, 4) manual muscle testing, and 5) timed functional tests. RESULTS: Lean body mass was significantly higher for subjects following albuterol treatment compared to placebo treatment, while fat mass was significantly lower. No differences were found in isometric knee moments or manual muscle tests. Time to run/walk 30 feet was improved following albuterol. CONCLUSIONS: Short-term treatment with extended release albuterol may increase lean body mass, decrease fat mass, and improve functional measures in patients with dystrophinopathies. However, the significant change in strength of specific muscle groups found in the pilot study was not observed in the present study. These findings may be attributed to differences in the drug release and kinetics between Repetab and Volmax formulations as they affect the concentration of available beta-2 receptors on the muscle cell surface differently.

[David Feder]

Sincerely I am not very encouraged by the use of albuterol, albuterol is a known drug for treatment of asthma; the increase in muscle strength is not sufficient to replace the steroid, it is not possible to use higher doses because it increases heart rate and can cause cardiac arrhythmias in addition to increasing oxygen consumption which can cause deterioration of cardiac manifestations. Perhaps this drug could have an accessory use in younger children, with the concomitant use of steroids