ATALUREN - confused about the information given from PTC Therapeutics and Genzyme


Hi Sharon and Pat

or anyone else who can help


Can someone PLEASE help me understand the information given from PTC Therapeutics and Genzyme, regards to Ataluren. Our son can use Ataluren, and he is about to stop walking. He didn’t participate in the
previous clinical trials, because the enrollment was closed before our son
could enter the trial. I know there are many other boys ”out there” in the same

I am asking for several other parents coming from Norway,but also parents coming from other contries.


First we had this article from the Annual Meeting of the American Academy of Neurology, published

April 13th. This article didn’t say anything that this is going to be a follow-on clinical study of Ataluren, so I thought ohhhhh finally Ataluren will be on the market in the USA (if approved by the FDA):



AAN 2011: Ataluren Reduces Decline in Ambulation in Duchenne Muscular Dystrophy

Based on these results, PTC Therapeutics, the company that developed ataluren, is planning to seek approval for its use in DMD from the United States Food and Drug Administration. Because of
the mechanism by which the drug overcomes the effects of the mutation, it would
be appropriate for only about 13% of DMD patients, according to study presenter
Ted Abresch, Research Associate in Neuromuscular Disease at the University of
California at Davis.


The whole article published April 13th 2011


Then today, this article was publised by Genzyme. They are talking about a follow-on open label clinical study for previous trial participants, in Europe.


Ataluren update from Genzyme

Follow-on open label clinical study announced for previous trial participants

As part of our continuing assessment, Genzyme plans to initiate a follow-on clinical study of ataluren in nmDBMD patients who previously participated in the clinical trials in Europe, Israel and Australia.
All patients who have previously participated in the clinical trials with
ataluren in nmDBMD, irrespective of their current clinical status, will be
eligible to participate.

We believe that this clinical study will allow for the collection of additional information on ataluren in nmDBMD while providing access to ataluren to all patients who have been involved in earlier clinical trials.
Currently we are working to develop the timelines and design for this clinical
study and we plan to update the community, with these additional details in the
very near future. We are reaching out to the original trial investigators to
make them aware of this new development and they may be in touch with eligible
families directly as well.

The whole article posted May 2nd 2011:


When/if Ataluren is approved by the FDA in the USA, is this an approval for all Stop-codon-boys in the USA ? Also those who didn’t participate in the previous clinical trials ?

When/if Ataluren is approvad by the European regulatory authorities, is this an approval for all Stop-codon-boys in Europe, also those who didn’t participate in the previous clinical trials ?


Can someone please help.



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Hello Berit,

As you might imagine, nothing is simple.

In theory, IF FDA approves ataluren, it COULD be available to all boys with nonsense mutations.  But we need to keep in mind that nothing is simple and that sometimes drugs are sometimes approved for a certain group of individuals and not another under certain conditions (conditional approval)   We have no information about what will likely happen, but sometimes FDA grants a conditional approval, setting certain conditions for using the drug and potentially recommending additional studies to understand or better understand the drug's safety of efficacy.   

With regard to EMA, things are a bit different, each country having specific regulatory requirements as well as laws related to access and reimbursement.




Hello Pat,


Thanks for your quick reply.


Being in the DMD-community for almost 9 years now, I certainly know nothing is simple. Its a roller coaster turning from hope one day, and to disappointment the next day. We just have to deal with it, and try to stay positive to our boys. Its hard though.


Just one more question; Do you know if PTC Therapeutics applied to FDA for a certain group (conditional approval), or not ?



Hi any one know how the extended trial is going for Ataluren??:

Hi Clare,


Our son is in the open label study but I don't know very much other than that.  It is 36 weeks, visits every 12 weeks, low dose, of course :)  Don't know what happens after the 36 weeks. 



How far along into the 36 weeks are you, Angela?

Angela Bourgeois said:


I read the translation from our parentproject from Action Duchenne conference London in the end of last yaer. Mr. Peltz said there that PTC will try to get approval for Ataluren in July this year. So I hope that will fill NDA in this month because they got fast track for dystrofinopathy. And if I understood this well they can fill it in phase 3 after 6 month of clinical trial.

I trying to get some information from internet but nothing...


Our son is in the open label study but I don't know very much other than that.  It is 36 weeks, visits every 12 weeks, low dose, of course :)  Don't know what happens after the 36 weeks. 



Hi Tracey,


Jacob has been back on since June 3rd. 



Tracey Hartz said:

How far along into the 36 weeks are you, Angela?

Our son was back on the drug since Feb and we just returned from a MD for the trial at the U of MN visit with 90 more days of drug so we are past the 36 weeks.


@Cheri,so how is your son doing on the extended trial???


He is doing well.  Jacob is 19 and so I prefer not discuss private issues about him in a public forum, if you'd like

 you can email me at

Is this old news just being recycled? When I saw it I wondered why there was no chatter from PPMD or parents. Seems quite significant.


26 - (Clinical Neuropathology, 2012;123(6):e64) Improvements in muscle function and accidental falling in ataluren-treated patients with nonsense mutation dystrophinopathy (Duchenne/Becker musculardystrophy)

J. Barth, C.M. McDonald, E. Henricson, T. Abresch, A. Reha, G. Elfring, S. Peltz - USA

Introduction: Duchenne and Becker muscular dystrophy (DBMD) patients progressively lose muscle function and become susceptible to accidental falling. Ataluren is an investigational drug designed to overcome the deleterious effects of nonsense mutations, which are responsible for 13% of DBMD cases. In a pivotal trial in nonsense mutation DBMD (nmDBMD), ataluren 10, 10, 20 mg/kg provided clinical benefit as demonstrated by the primary endpoint of change in 6-min walk distance (6MWD), a measure of global patient function and endurance (p = 0.0584; post hoc analysis).

Objectives: Assess secondary endpoints including timed function tests and patient/caregiver-reported accidental falling, which are discrete measures of patient function.

Methods: Males (5 years old) with nmDBMD were randomized 1:1:1 to placebo; ataluren 10, 10, 20 mg/kg; or ataluren 20, 20, 40 mg/kg orally three times a day and evaluated every 6 weeks for 48 weeks.

Results: The study enrolled 174 subjects (median age 8 years, range 5–20 years; corticosteroid use 123/174 [71%]; median baseline 6MWD 360 m, range 75–554 m). Favorable trends in mean changes from baseline to week 48 for ataluren 10, 10, 20 mg/kg versus placebo were −2.40 s for stair ascend, −1.62 s for stair descend, and −1.35 s for 10-m walk/run. Over 48 weeks, accidental falling declined in the ataluren 10, 10, 20 mg/kg arm relative to placebo (odds ratio = 0.37, p = 0.0239; post hoc analysis). Data from all treatment arms will be presented.

Conclusion: Ataluren 10, 10, 20 mg/kg slowed the loss of muscle function and decreased the frequency of accidental falling relative to placebo. These important findings support the primary endpoint results showing a positive treatment effect for ataluren 10, 10, 20 mg/kg in this population.

I have not seen that study, David. It seems hugely significant to me. I don't see how the FDA would not consider that clinically meaningful benefit...

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