Hi all PTC124 followers. A very good friend just send me the abstracts of the European CF conference in Belek, Turkey this year where results of PTC124 were presented. Below the abstract, I was very happy to see that also mutations with single X and delF508 were included and not only double X mutations. Encouraging news. If anyone else finds some other materials please share here!!
Regards
Jeanpaul
"PTC124 activity in CF pts carrying stop mutations: results of a phase 2 study" E. Kerem et al., various hospitals in Israel
Aim: PTC 124 is a molecule that promotes ribosomal read-through of nonsense mutations in mRNA. The pharmacological activity of PTC124 was determined in CF pts carrying stop mutations. Methods: Pts receiving 2 cycles of oral PTC124 comprising 3 times per say (TID) dosing at 4,4, and 8 mg/kg for 14 days, then no treatment for 14 days, then
TID dosing at 10, 10, and 20 mg/kg for 14 days, and no treatment for 14 days. Nasal potential difference (NPD), pulmonary function, weight and CF symptoms were assessed before and at the end of treatment in each cycle. Results: 23 pts, mean age 25, range 18-57 years, genotypes included: G542X/W1282X; G542X.delF508, G542X/N1303K, W1282X.W1282Xl W1282X/3849+10C to T; 3849+10C to T/delF508; W1282X.delF508 received both dose levels. At both doses, mean chloride conductance (avg of the 2 nostrils) improved from +1.1 to -5.8mV (p<.0001), and from -0.3 to -3.9mV (p=0.032), and normalized to >-5mV in 56% (13/23) and 35% (8/23) of patients, respectively. At the end of low-dose treatment, mean FEV1 increased from 63.6 to 66.7% of normal (p=0.02), FVC increased from 77.0 to 80.1% of normal (p=0.01) and mean body weight increased from 57.0 to 57.7 kg (p<0.001). Side effects were minimal. Conclusions: Treatment with PTC124 in CT pts carrying stop mutations is associated with improvements in NPD, pulmonary functions, and weight. Longer term studies are in progress.
