Monday, September 19, 2016

DMD Treatment approved by FDA

Yesssss,  indeed... the treatment for DMD is now available....

How long have we been waiting.... decades... almost 3; after the discovery of underlying gene mutation called DYSTROPHIN by Louis Kuenkel and his group (1987).

Let us hear the good news from the horse's mouth... FDA report link

But hold on.... it is not available for the entire group of patients suffering due to Duchenne. Presently, it is kind of fix ONLY for those suffering due to mutation of dystrophin gene at Exon location 51.

To be able to follow the above statement; one need to understand that DMD is caused due to mutation in dystrophin gene; which could occur at few notable exon locations i.e,. 12, 13, 17, 19-22, 42-45, 47-53, 55, 60 . How about all those other patients who are having mutations other than exon-51; as a "common man" my guess is...... they just have to wait.... how long??? again... a crude guess is 2-3 years.

At present let us celebrate the moment of joy for all those who are suffering due to exon-51 can knock the doors of the respective state health providers and will have to check out the availability of medicine. I am sure the cost implications are going to be really really huge; as per the press report, Sarepta (the manufacturer) said "the drug would cost about $300,000 dollars a year in USA", this would translate to around TWO crore Indian rupees.

Deep from my heart... I congratulate the entire Muscle Dystrophy community (I being one among them) and today, I am going to have a peaceful sleep... at least for TODAY....

Would be glad to clarify the doubts: smahmedhyd@gmail.com , +91 94 9204 2609 (S.M. Ahmed)

Friday, February 26, 2016

DMD Treatment; So close, but bit Far

News Update:

(April end week, 2016):
It is all a SHUT case for the treatment options to the  DMD patients, as of now. The FDA held its meeting to seek approval from the committee which would decide whether the drug, Eteplirsen would cross the bar for the FIRST time ever. The committee thought IT WOULD NOT. It gave a 8-5 verdict that Eteplirsen does NOT meet the minimum standard for accelerated approval based on inadequate efficacy.

(April 2nd week, 2016):
In an open letter to FDA, David Grainger ( appearing in FORBES ) argued as a taxpayer how the decision making of FDA on either side of the coin (YES / NO approval of drug) would affect people. He does share the views of positive effects of Eteplirsen and its vitality to the patient (& families); but cautions that the approval would also means end of the road for a better drug in future.

(March 3rd week, 2016):
A huge boost to Sarepta's Eteplirsen drug for the upcoming FDA Review of approval (April-25th) has taken place due to a letter written by an accomplished group of 36-doctors lead by Dr. Carrie Miceli of Centre of Muscular Dystrophy, UCLA urging the approval to FDA. (News Report LINK)


Along the entire globe, the DMD affected families were waiting for the Dawn of 2016 which would end the Clinical trials (3 + years) of Exon skipping drugs: 1. BioMarin's  DRISAPERSEN and 2. Sarepta's ETEPLIRSEN. Post Christmas holidays season within a week's working into the year of 2016, the American drug regulatory body, FDA had their meeting on 14th of January and rejected Drisapersen. Reason: "the standard of substantial evidence of effectiveness has not been met". This was mainly due to some side effects found in the kidney for some patients.

This broke the hearts of, if not thousands, but tens of hundreds of children who had been counting days to look for a treatment option. Pain is un-imaginable on those few souls who had whole heartedly participated in the very very long clinical trials. It is as if, the tired heart muscles pleading to the everlasting soul... "Will you please energize me..."  Many parents of these kids vouched for the very positive changes brought by the "wonder drug", culmination of enormous hard work and innovativeness on part of the scientists (hats off !! Dr. Jerry Mendel !! Nationwide Children's Hospital, Ohio). When the option is between death and side effect; I wonder why we are worrying so much about mild jitters this drug may offer to the SOUL which is painfully counting each breath.

What NEXT.....? The second drug in line, which is developed on the similar line of scientific thoughts is due for FDA's scrutiny is Sarpta's Eteplirsen. The FDA's meeting schedule to take any further action is just around the corner (Shifted from February to April-25th). Hats off to MDA, PPMD and many other groups (in USA) who are giving their best to convince FDA that how crucial is the time; the families are counting every passing moment.

The DMD Community  awaits FDA's next course of action...... Whether they will allow BioMarin to come back with additional home work or they have to get back to square one.

There are few other drugs which are rising on "horizon of hopes"...
1. Santhera's Idebenon which has the potential to delay the loss of respiratory function.
2. PTC therapeutics' Ataluren (or Translerna): Though this drug too had suffered some setbacks in showing positive results on "6-minutes walk test"; but the developers still hope that it has potential to address to 13% of DMD patients suffering from "nonsense mutation"
3. PFIZER's drug PF-06252616 which is in clinical trials-2.

There are another 3-4 drugs ( AKASHI's HT100, SUMMIT's SMT C1100, CAPRICOR's CAP 1002) which are into the early stages of clinical trials and hope to progress further in another year or so.

It is extremely difficult to say; whether one should end this post on a POSITIVE note or otherwise. The title of this post is certainly NOT misleading..... As a father of child who suffers from Limb Girdle Muscle Dystrophy, I can say that

When the world says, "Give up,"
Hope whispers, "Try it one more time"


N.B: The news flash written at the bottom of this post are REAL, that was when the press reports were flashing:
1. approval by European agency to market ATALUREN for one kind of exon skipping condition to treat DMD. 
2. FDA approving the New Drug Application for Sarepta's ETIPLERSEN. 
But, by no mean to misguide the DMD affected families.

Would be more than glad to advice (and help) any one suffering due to this disease:
contact : smahmedhyd@gmail.com