R1162X and PTC124

H

henryb

New member
Hi Jean Paul, Kelly and all others in this forum who are interested in PTC 124!
At the moment I have no further information or news regarding PTC 124. What I know about PTC124 I have found on the internet or directly from the PTC Therapeutics website: <a target=_blank class=ftalternatingbarlinklarge href="http://www.ptcbio.com/3.1.1_generic_disorders.aspx
">http://www.ptcbio.com/3.1.1_generic_disorders.aspx
</a>I hope PTC 124 will work for our kids! Fingers crossed...
Best to you all,
Henry
 
H

henryb

New member
Hi Jean Paul, Kelly and all others in this forum who are interested in PTC 124!
At the moment I have no further information or news regarding PTC 124. What I know about PTC124 I have found on the internet or directly from the PTC Therapeutics website: <a target=_blank class=ftalternatingbarlinklarge href="http://www.ptcbio.com/3.1.1_generic_disorders.aspx
">http://www.ptcbio.com/3.1.1_generic_disorders.aspx
</a>I hope PTC 124 will work for our kids! Fingers crossed...
Best to you all,
Henry
 
S

StevenKeiles

New member
Just to clarify, the mutation that is common in Israel, is actually a common mutation in Askenazi (eastern european) Jews and the mutation is W1282X.

Also I am not aware of any issue with a particular mutation such as R1162X.


Steve
 
S

StevenKeiles

New member
Just to clarify, the mutation that is common in Israel, is actually a common mutation in Askenazi (eastern european) Jews and the mutation is W1282X.

Also I am not aware of any issue with a particular mutation such as R1162X.


Steve
 
S

StevenKeiles

New member
Just to clarify, the mutation that is common in Israel, is actually a common mutation in Askenazi (eastern european) Jews and the mutation is W1282X.

Also I am not aware of any issue with a particular mutation such as R1162X.


Steve
 
S

StevenKeiles

New member
Just to clarify, the mutation that is common in Israel, is actually a common mutation in Askenazi (eastern european) Jews and the mutation is W1282X.

Also I am not aware of any issue with a particular mutation such as R1162X.


Steve
 
S

StevenKeiles

New member
Just to clarify, the mutation that is common in Israel, is actually a common mutation in Askenazi (eastern european) Jews and the mutation is W1282X.

Also I am not aware of any issue with a particular mutation such as R1162X.


Steve
 
S

StevenKeiles

New member
Just to clarify, the mutation that is common in Israel, is actually a common mutation in Askenazi (eastern european) Jews and the mutation is W1282X.

Also I am not aware of any issue with a particular mutation such as R1162X.


Steve
 
H

hardclubber

New member
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.
 
H

hardclubber

New member
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.
 
H

hardclubber

New member
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.
 
H

hardclubber

New member
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.
 
H

hardclubber

New member
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.
 
R

rarab43

Guest
I am not positive about the answer to your question but my son whos mutations are E60X and 621+1G->T was in the last phase of the study. He was the first person in the US to receive the drug- he was seen at UAB in Birmingham Alabama. We are waiting to be enrolled in the next phase- the dr told us in June that the FDA had ordered more toxicity studies before the next phase. My understanding is that it is supposed to work for all stop mutations but I could be wrong. That phase was just for safety and dosage purposes but there was a difference in the NPD tests. Susan
 
R

rarab43

Guest
I am not positive about the answer to your question but my son whos mutations are E60X and 621+1G->T was in the last phase of the study. He was the first person in the US to receive the drug- he was seen at UAB in Birmingham Alabama. We are waiting to be enrolled in the next phase- the dr told us in June that the FDA had ordered more toxicity studies before the next phase. My understanding is that it is supposed to work for all stop mutations but I could be wrong. That phase was just for safety and dosage purposes but there was a difference in the NPD tests. Susan
 
R

rarab43

Guest
I am not positive about the answer to your question but my son whos mutations are E60X and 621+1G->T was in the last phase of the study. He was the first person in the US to receive the drug- he was seen at UAB in Birmingham Alabama. We are waiting to be enrolled in the next phase- the dr told us in June that the FDA had ordered more toxicity studies before the next phase. My understanding is that it is supposed to work for all stop mutations but I could be wrong. That phase was just for safety and dosage purposes but there was a difference in the NPD tests. Susan
 
R

rarab43

Guest
I am not positive about the answer to your question but my son whos mutations are E60X and 621+1G->T was in the last phase of the study. He was the first person in the US to receive the drug- he was seen at UAB in Birmingham Alabama. We are waiting to be enrolled in the next phase- the dr told us in June that the FDA had ordered more toxicity studies before the next phase. My understanding is that it is supposed to work for all stop mutations but I could be wrong. That phase was just for safety and dosage purposes but there was a difference in the NPD tests. Susan
 
R

rarab43

Guest
I am not positive about the answer to your question but my son whos mutations are E60X and 621+1G->T was in the last phase of the study. He was the first person in the US to receive the drug- he was seen at UAB in Birmingham Alabama. We are waiting to be enrolled in the next phase- the dr told us in June that the FDA had ordered more toxicity studies before the next phase. My understanding is that it is supposed to work for all stop mutations but I could be wrong. That phase was just for safety and dosage purposes but there was a difference in the NPD tests. Susan
 
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