Interview: Amy & Chris Martin & Their Involvement with Duchenne Muscular Dystrophy

The following is an interview with Amy & Chris Martin who have a son with Duchenne muscular dystrophy. Amy and Chris have been instrumental in helping bring about the UCLA DMD Research and Clinic. Take a moment to learn more about how and why they are committed to bringing a cure to DMD.

How long ago was your son diagnosed?
3 years ago 

What was your reaction?
Shock, confusion and terror….like a bomb exploding on our house. 

What led you to Cure Duchenne?
Friends introduced me to Stan (Nelson) and Carrie (Miceli). Then I started doing research on the web and came across CureDuchenne. I liked the name.

We met Paul and Debra (Miller) and really liked their approach to finding and funding viable treatments that may help this generation of boys. We also liked the fact that they were in Southern California. There was no need to reinvent the wheel and start our own foundation. We wanted to work together.

What made you decide to get involved in fundraising?
Fundraising is the only thing we can do! We are not scientists. We are not doctors.  We are parents who are very involved in our community and like to give back. When we needed help we got it because of that community spirit. Scientists need money and we can help. Why wouldn’t we?

You’ve done very well with Dealing for Duchenne Celebrity Poker Tournament. How did you get started with such a successful event? (What’s your secret?)
Both Chris and I are very active within our community and at our kid’s schools. We volunteer and coach teams and always help friends in need. When we asked people for help in putting together an event, we got it!  That’s what friends and people in your community are supposed to do for one another.

We feel very blessed to have such wonderful friends. I guess the secret is being a good friend, and also being able to ask for help. People want to help but you have to ask for specific things. No one knows what they can do, you need to tell them.

What would you say to parents who’ve just received the diagnosis?
First I would say, in the beginning it is okay to do nothing. To feel sad, angry, and depressed. It helped me to learn as much as I could about the disease and to also talk to my friends. I didn’t want to get involved in parent support groups. I wanted to live life in the present and do whatever I could to make a difference in my son’s future.  

Everyone handles it differently. There is no right way to grieve. It is a process and ours is especially difficult. It is a burden to live with knowing that your child is dying inside and that there is nothing doctors can do to prevent it. We are not equipped to deal with that.

I cannot explain how hard it is to live with this burden of knowing. It doesn’t get easier, but you do get better at it. Denial is okay sometimes. I do not blame or judge anyone who wants to go away and live life with their child and wait for scientists to find something that will help. Sometimes I want to do that and sometimes I take time to do just that! But I know that the science needs funding, and I have to help – it is the only proactive thing I can do to give my son a fighting chance.

What would you say to people looking to get started with fundraising?
Ask your friends for help! Think about who you know, what they may be able to do to help you, and then ask them. Learn about the disease process, the research being done, and think about why no one knows about Duchenne. Talk about it. Be honest with your friends.

I know that every parent in my situation would do the same thing because we all fight for our kid’s futures every day. We all want to give our kids the best chance at living a full life. I never knew how to throw a gala or charity event. I asked for help. I was honest in saying “I don’t know how to do this, can you help me?”

If you want to do something talk to your friends about ideas, ask them for help, and you will be surprised. CureDuchenne is a great resource and ready to help any parent that wants to get involved.

Any other thoughts you’d like to share with the DMD community?
People need to know what Duchenne is. I have been in the awkward situation of hearing about children in my community who are suffering from Leukemia, cancers, diabetes, and other childhood diseases.

Everyone feels so sorry and sad for them, and yet I want to scream, “I would give anything for a doctor to tell me that my son has an 80% percent chance of survival if we do a horrible (but life saving) treatment for 2 years!” I’d take even a 70% or 50/50 or anything!

Duchenne is a death sentence. So were AIDS, Cancer, Diabetes, and Cystic Fibrosis. If we can’t talk about how bad it is, we will never get enough attention or funding.

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GSK Anticipates Delay in 48 week Phase 3 DMD Study

ON BEHALF OF JOHN KRAUS, MD, PHD and PADRAIG WRIGHT, MD, PHD

(GLAXOSMITHKLINE)

Today, GSK informed a number of potential study investigators that we anticipate a delay in the planned 48 week phase 3 study (Study DMD114044) of GSK2402968, commencing in Canada. 

Health Canada has requested that GSK provides additional data to inform their decision regarding approval of initiation of Study DMD114044.  This study is planned to investigate the safety and efficacy of GSK2402968 in ambulant boys with DMD, who have a dystrophin gene mutation amenable to an exon 51 skip. 

GSK is working with Health Canada to provide the data they require to initiate the study in Canada as soon as possible. 

In the meantime, GSK is working with other regulators and progressing with plans to begin the study outside of North America.  GSK will alert you when study details, including study site locations, are posted to www.clinicaltrials.gov. 

 John E. Kraus, MD, PhD                                  Padraig Wright, MD, PhD                                          
john.e.kraus@gsk.com                                    padraig.x.wright@gsk.com

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BioMarin Announces Results for Phase 1 Clinical Study of BMN 195

Contacts:
Investors Media
Eugenia Shen Susan Berg
BioMarin Pharmaceutical Inc. BioMarin Pharmaceutical Inc.
(415) 506-6570 (415) 506-6594

BioMarin Announces Results for Phase 1 Clinical Study of BMN 195
for Duchenne Muscular Dystrophy

BMN 195 Program Discontinued due to Pharmaceutical and Pharmacokinetic Challenges
Novato, Calif, August 2, 2010 – BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) announced today that it
has completed the Phase 1 clinical study of BMN 195, a small molecule utrophin up-regulator, for the
treatment of Duchenne muscular dystrophy (DMD). The Phase 1 clinical trial was a single-center, doubleblind, placebo-controlled, single-dose escalation study followed by a multiple-dose escalation study in healthy volunteers.

The administration of up to 400 mg/kg did not achieve plasma concentrations believed to be required to
increase utrophin expression. Moreover, plasma concentrations of BMN 195 were even lower on repeat
administration. Based on these results, BioMarin has concluded that the likelihood of achieving a
therapeutic effect in DMD patients is highly unlikely and has discontinued development of BMN 195.
“Duchenne muscular dystrophy remains a serious unmet medical need affecting approximately 40,000
patients in the developed world, and BioMarin remains committed to this disease area,” said Jean-
Jacques Bienaimé, Chief Executive Officer of BioMarin. “Given the limitations of BMN 195, we believe
that other approaches to up-regulation of utrophin may be more possible, and we continue to believe that
utrophin upregulation is a viable approach for the treatment of DMD. We are currently working on
additional candidates to take forward into early human studies, and the new compound we are working on
appears to overcome the limitations of BMN 195.”

About Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is a fatal neuromuscular disorder that affects 1 in 3,500 boys with an
estimated patient population of over 40,000 in the developed world.
DMD is caused by a genetic defect that results in DMD patients lacking an important protein called
dystrophin, which is crucial to maintaining muscle integrity and function. The absence of dystrophin
results in extensive muscle wasting in all voluntary muscles as well as the heart and breathing muscles
and causes severe restriction in the mobility of DMD patients by their early teens and is ultimately fatal,
generally in their twenties. Currently there is no cure for DMD. Corticosteroid treatment is the only
frontline therapy and acts to only delay the progression of the disease.

About BioMarin
BioMarin develops and commercializes innovative biopharmaceuticals for serious diseases and medical
conditions. The company’s product portfolio comprises four approved products and multiple clinical and
pre-clinical product candidates. Approved products include Naglazyme® (galsulfase) for
mucopolysaccharidosis VI (MPS VI), a product wholly developed and commercialized by BioMarin;
Aldurazyme® (laronidase) for mucopolysaccharidosis I (MPS I), a product which BioMarin developed
through a 50/50 joint venture with Genzyme Corporation; Kuvan® (sapropterin dihydrochloride) Tablets,
for phenylketonuria (PKU), developed in partnership with Merck Serono, a division of Merck KGaA of
Darmstadt, Germany; and Firdapse™ (amifampridine phosphate), which has been approved by the
European Commission for the treatment of Lambert Eaton Myasthenic Syndrome (LEMS). Other product
candidates include GALNS (N-acetylgalactosamine 6-sulfatase), which is currently in clinical development
for the treatment of MPS IVA and PEG-PAL (PEGylated recombinant phenylalanine ammonia lyase),
which is currently in Phase II clinical development for the treatment of PKU. For additional information,
please visit www.BMRN.com. Information on BioMarin’s website is not incorporated by reference into this
press release.

Forward-Looking Statement
This press release contains forward-looking statements about the business prospects of BioMarin
Pharmaceutical Inc., including, without limitation, statements about: the development of its product
candidate BMN 195, and expectations related to further development of product candidates for DMD.
These forward-looking statements are predictions and involve risks and uncertainties such that actual
results may differ materially from these statements. These risks and uncertainties include, among others:
the results of current and planned pre-clinical research of various compounds; the content and timing of
decisions by the U.S. Food and Drug Administration and other regulatory agencies, and those factors
detailed in BioMarin’s filings with the Securities and Exchange Commission, including, without limitation,
the factors contained under the caption “Risk Factors” in BioMarin’s 2009 Annual Report on Form 10-K.
Stockholders are urged not to place undue reliance on forward-looking statements, which speak only as
of the date hereof. BioMarin is under no obligation, and expressly disclaims any obligation to update or
alter any forward-looking statement, whether as a result of new information, future events or otherwise.
BioMarin®, Naglazyme® and Kuvan® are registered trademarks of BioMarin Pharmaceutical Inc.
Firdapse™ is a trademark of BioMarin Huxley Ltd.

Aldurazyme® is a registered trademark of BioMarin/Genzyme LLC.
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