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)

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 

DMD Treatment - Available

Update... 27th August, 2015
Here is the pleasant news FIRST TIME EVER to all those suffering from Duchenne MD and have mutation at the location: Exon-51 in the dystrophin gene. FDA has considered the "New Drug Application NDA for the Eteplirsen drug made by Sarepta Therapeutics.

Details: LINK 

Update... 4th December, 2014
Wake up... GERMANY.... the DMD drug has now been released commercially today (4th Dec., 2014) in Germany to treat DMD patients of 5-years and above, ambulant for a specific mutation.
here are the detailed reports : LINK-1 , LINK-2

The title of this post is certainly going to bring a  "colorful"  ray of hope among so many patients and their families. YES,  THE APPROVAL FOR THE DRUG TREATING DMD HAS BEEN GRANTED ***. The purpose of choosing this title is to bring out the latest news which I have been reading: "The treatment options for Duchenne Muscle Dystrophy, DMD". This can easily be done by all those google users by setting their google alerts with the titles "DMD",  "DMD Treatment". This is how I get to know every whisper on DMD which may happen anywhere around the globe. I am NOT an expert, but a father of patient who is suffering from another kind of muscular dystrophy (LGMD). Let me start with the best news which flashed exactly a month ago (24th May, 2014) about a conditional approval of DMD treating drug, followed by few more medicines which are very very promising and have been going through a thorough grind under the watchful eyes of FDA (Food and Drug Administration), USA and are almost hoping for a green signal.

European Medicine Agency (CHMP, Committee for Medical Products for Human use) recommends first-in-class medicine for treatment of DMD:
Here is the exact report which was declared by European Medical Agency. Without making it any sensational; let me use the exact phrases verbatim : "the CHMP has recommended granting a conditional marketing authorisation for Translarna (Ataluren)" marketed by I. PTC therapeutics USA. Translarna is to be used for in patients aged FIVE years and above who are able to walk.

Even though the regulating agency CHMP had turned down the application of Translarna in January-2014; the present stand is all due to a request of the applicant to re-examine of its opinion on all the available evidence, re-analysis of the clinical data. As per the present stand of CHMP a conditional marketing has been awarded to PTC. This is a marketing authorisation for a drug that addresses an unmet medical needs of patients suffering due to life threatening disease.

II. Prosena gets a FDA green signal
Another report appearing on 3rd June, 2014 sounds a very positive note by saying that Prosena therapeutics, Netherlands has got the favoring (GREEN) signals from FDA. Prosena's drug, Drisapersen too had its flip side when their phase-III trials had not shown appreciable results as compared to the placebo group. However, due to the relentless efforts of the company with new analysis and extension studies on phase trials the company has come under the consideration of FDA. Prosena was asked (by the FDA) to two post approval studies  to confirm drisapersen's efficacy.

III. Sarepta surges ahead on optimism over Muscular Dystrophy Drug
This report mentions the firmed up plans of Sarepta's drug Etiplersen to be getting ready soon. The upbeat mood was all due to the favorable decision the company may hope to get from FDA for moving quickly to the new set of trials with a large group of patients to substantiate the already existing data with a small group of patients.

*** NOTE:
* Most of the information given above is taken from the material appearing in the internet. 
* Credit has been given to all the original reports by providing the link (in bold-red color). 
* The authenticity of the above provided information can be sought from the appropriate drug companies while the  author takes no responsibility. 
* It must also be kept in mind that 
a. the availability of this drug in the market is going to take some time
b. also, the drug could be given only to those patients who will qualify as per the exact mutation for which these drugs have been designed; further details are beyond the scope of this report.


Important link for Calpainopathy patients: LGMD-2A
 Coalition to Cure Calpain, 3:  link
Here is the place where the co-founders of the organisation themselves are suffering due to Calpainopathy and they are taking every possible step which will inch towards the cure of another rare disorder.


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

Muscle Dystrophy (MD), Duchenne Muscle Dystrophy (DMD), Limb Girdle Muscle Dystrophy (LGMD)

This article is written by a non-specialist (father of a patient) and of course meant for all those poor souls who are just been diagnosed with Muscle Dystrophy (MD) with the high CPK (Createne Phospho Kinase) presently anxious and wanted to know more on What next???

Courtesy : MDA

The first step for an individual with high CPK is to find which MD is it. So, having categorizing the Muscle Dystrophies, I shall narrate the ways to diagnose which is the dystrophy, which is a major challenge and I have succeeded in achieving the results. The central idea of this article is to pay high emphasis on the Diagnosis part. Of course, I too DO NOT have an answer to What next??? However, I shall certainly try to help those who are in dark about What could be Next?

Muscle Dystrophy (MD) is a genetic disorder related disease. It is a progressive in nature and hence the patient suffering from MD will not see dramatic changes (in degradation) in his/her health. How fast or slow it progresses will depend on which type of disease it is. It is for this reason, I would urge every individual who is "suspected of MD" but type is not known, MUST find an answer that which type of MD he/she is suffering. Many doctors and experts made fun of me by asking what will you do after knowing the MD. My humble answer to them is please and please keep yourself on this side of the table and think.... Would you not like to know how dark is the future for you...How far would like to WALK in the future? Finally, tomorrow if there is cure based on the mutation then you must know Which is the mutation.

Till today, the MDs are characterized by clinical manifestations; while the future direction is: reclassification of the MD into disorders defined not by clinical characteristics but by the specific genetic mutations. After the huge progress in genetic sciences in the past 2-3 decades the MD are now assessed at the genetic level by finding the genetic mutation. However, historically, the first documentation and detailed study was done on Duchenne Muscle Dystrophy (DMD); being the most dreaded one and found mainly in males at a tender age. It is caused due to the mutation in dystrophin gene resulting in the dystrophin deficiency. Another variant of the same type is called Becker MD (BMD).

The second major category is due to the sarcoglycans called Limb Girdle Muscle Dystrophy LGMD which further categorised to LGMD- 2C, 2D, 2E, 2F and with mutation in Calpain gene it is called LGMD-2A, while mutation in dysferlin would lead to LGMD-2B. While both DMD and LGMD belong to autosomal recessive disease; meaning neither of the parents could have these symptoms; the other type is called autosomal dominant (LGMD-1A, 1C..) where the disease is basically percolated downwards from their elders to the children. There are few more types of MDs, less known as they occur far less in number which run into 10-12 types, are again assigned due to the mutation in various genes.

Diagnosis:
The first step in diagnosis is to go for a simple CPK Test. This would certainly tell about whether the patient is suffering from some leakage of material createne from their muscles. Pray to god that your CPK should be within 100 (counts); the moment it is in few hundreds or thousands, doesnt matter how large it all means that you are into the MD domain.

Though the doctors would go for few other tests called EMG (ElectroMyoGram) test etc to rule out few other class of defects. However, the most reliable test so far (NOT ANY MORE) is the muscle biopsy test. From Indian point of view there are few Governmental hospitals/institutes (Sree Chitra Thirunal Institute, Trivandrum, Kerala, NIMHANS-Bangalore, few other..) which would do the muscle biopsy at NO cost, but few other private hospitals would charge as per their standard.

The philosophy to be followed is to rule out few major MD by muscle biopsy tests before getting into Genetic Tests. The genetic test for DMD is straight forward (can be done at CCMB, Hyderabad, INDIA) and charges are very nominal in India. However, there is no other place as of now (July-2011) in India which performs reliable genetic test for MD (Please refer to the latest development brought out in a small NOTE at the bottom).

As such, the genetic tests (any where in the world) are very expensive; to rule out one type of mutation they may charge few hundred US dollars; the cost of these tests are slowly coming down as the technology matures with faster sequencing making its headway.

Here are few places in the world who are taking up the genetic tests for MD (by no mean this is the authoritative list; also the mail-ids are only representative of persons in charge at the time of writting; by no mean an authentic information):

US: 
1. Athena Diagnostics Inc., Worcester-MA
2. Emory Genetics Laboratory, Ph No (USA): 404-778-8499

Japan:
National Insitute Neurosciences, Tokyo, 187-8502
Dr. Narihiro Minami: minami@ncnp.go.jp

Europe:
1. Leiden University Medical Center, Leiden, Netherlands
Prof. Bakker: e.bakker@lumc.nl

2. Prof. Sabina Gallati, PhDHead of the Division of Human Genetics
Specialist in medical genetic analysis FAMH
Dept. of Paediatrics; Inselspital; CH - 3010 Bern; Switzerland
mail: Sabina.GallatiKraemer@insel.ch

January: 2014
Thanks to Dr. Ashwin Dalal of CDFD , India; he has helped me in tracking every laboratory in the world which takes up the gene sequencing of various muscular dystrophy; this information is distributed by none other than the most trusted research entity in USA, the NIH, the site is: Genetic Testing Registry. For example, in my case of LGMD-2A, the site gave me 27-centers across the globe which are taking up the gene sequencing for CALPAINOPATHY.