PTC 124

Question

MY 8 YEARS OLD DAUGHTER HAS THE FOLLOWING MUTATIONS, DELTA F 508 AND W1282X.
IS PTC 124 EFFECTIVE FOR THIS KIND OF MUTATION?
AND WHICH ARE THE RESULTS OF THE LAST CLINICAL TRIALS?
DO I HAVE SOMETHING TO HOPE FOR?

Answer

Dear friend,
The PTC124 has been found to be effective for stopping mutation in the group of mutations, whose name ends in X (e.g. W1282X & G542X). The first results are encouraging and come from USA and Israel and the research is under progress. Certainly there is great hope for the definitive approach of the problem.
Yours friendly,
S. Doudounakis

18.06.2009

18.06.09
As a phase III study will soon begin for PTC124, we asked Mrs. Goetz, the responsible Director of Patient and Professional Advocacy about the possibility of e.g. a greek patient to participate in that study.
Here is information from her:

Dear Dr. d'Alquen,
Thank you for your inquiry about ataluren (formerly referred to as
PTC124). I apologize for the delay in responding to you. We have not yet
opened the Phase 3 study, although we expect to do that in the next few
months. At this time we are planning to have sites in a number of
European countries but unfortunately not in Greece. Once the trial opens
we will be listing all of the sites on our website and also on
www.clinicaltrials.gov. Then as each individual site opens we will add
contact information.

I assume that the patient who inquired about the trial has a nonsense
mutation (one of the ones that ends in X). If this patient can speak
English or the language spoken at any of the trial sites well enough to
be consented in that language, he or she might contact that trial site
and inquire about participation. The decision will be up to the trial
site.

I hope this information is useful. Please feel free to contact us again
should you have additional questions.
Sincerely,

Diane M Goetz
Director of Patient and Professional Advocacy
PTC Therapeutics
100 Corporate Court
South Plainfield, NJ 07080
Tel: 908 912-9256
Fax: 908 222-7231
Mobile: 908 251-0837
dgoetz@ptcbio.com
www.ptcbio.com

D. d'Alquen