Interview: Amy & Chris Martin & Their Involvement with Duchenne Muscular Dystrophy
August 19, 2010 by CureDuchenne
Filed under Events
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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Acceleron Pharma Receives FDA Fast Track Designation for ACE-031 for the Treatment of Duchenne Muscular Dystrophy
August 19, 2010 by CureDuchenne
Filed under Research Articles
CAMBRIDGE, Mass.– August 19, 2010 – Acceleron Pharma, Inc., a biopharmaceutical company developing novel therapeutics that modulate the growth of cells and tissues including muscle, bone, fat, red blood cells and the vasculature, today announced the United States Food and Drug Administration (FDA) granted orphan designation for ACE-031 for the treatment of Duchenne Muscular Dystrophy (DMD), a fatal neuromuscular disease in which patients experience a progressive loss of muscle mass and strength. ACE-031 is an investigational protein therapeutic being developed to increase muscle mass and strength.
“In the past two weeks, the FDA has granted both orphan status and Fast Track designation to ACE-031 in recognition of the drug’s potential to address the enormous unmet medical need for therapeutics to treat DMD patients”, said Matthew Sherman, M.D., Chief Medical Officer at Acceleron. “We will continue to work collaboratively with clinical investigators, health authorities and patient advocacy groups around the world to develop ACE-031.”
Orphan drug designation is granted by the FDA Office of Orphan Products Development to assist and encourage companies to develop safe and effective therapies for the treatment of rare diseases and disorders. Under the Orphan Drug Act, the FDA may provide grant funding towards clinical trial costs, tax advantages, FDA user-fee benefits, and seven years of market exclusivity in the United States following drug approval by the FDA. The approval of an orphan designation request does not alter the standard regulatory requirements and process for obtaining marketing approval. For more information about orphan designation, please visit the FDA website at www.fda.gov
About ACE-031
ACE-031 is an investigational protein therapeutic that builds muscle and increases strength by inhibiting signaling through a cell surface receptor called activin receptor type IIB (ActRIIB). ACE-031 is a recombinant fusion protein that is produced by joining a portion of the human ActRIIB receptor to a portion of a human antibody. This creates a freely circulating, decoy version of ActRIIB which removes proteins, such as GDF-8 (myostatin), that limit the growth and regeneration of muscle. Animal studies with ACE-031 suggest that blocking signaling through ActRIIB leads to increased muscle mass and improved physical function in a range of animal models of muscle disease, including models of muscular dystrophy. ACE-031 is currently being studied in a phase 2 clinical trial of patients with Duchenne Muscular Dystrophy (DMD) who are also receiving corticosteroid therapy.
About Duchenne Muscular Dystrophy (DMD)
Duchenne Muscular Dystrophy (DMD) is a debilitating and fatal genetic disorder characterized by the progressive loss of muscle strength and function. It primarily affects boys and occurs in approximately 1 in every 3,500 live male births. DMD is caused by genetic mutations that result in the absence or a defect in dystrophin, a protein necessary to maintain the structural integrity of muscle fibers. This condition leads to deterioration of and damage to skeletal muscles, which eventually become infiltrated by non-functional scar and fatty tissue. As a result, patients experience a relentless decline in muscle strength that impairs their ability to walk, breathe and live independently. Many patients spend the majority of their lives confined to wheelchairs and eventually lose all upper body function. Few patients survive beyond their late-20s when their heart and respiratory muscles weaken and eventually fail.
About Acceleron
Acceleron is a privately held biopharmaceutical company committed to discover, develop, manufacture and commercialize novel biotherapeutics that modulate the growth of red blood cells, bone, muscle, fat and the vasculature to treat musculoskeletal, metabolic and cancer-related diseases. Acceleron’s scientific approach takes advantage of its unique insight into the regenerative powers of the TGF-β superfamily of proteins. ACE-011 is in Phase 2 clinical trials in patients with anemia. ACE-031 is being studied in a Phase 2 clinical trial in patients with Duchenne Muscular Dystrophy and ACE-041 is being studied in a Phase 1 clinical trial in patients with advanced cancer. In addition, the company is developing several other new product candidates that increase muscle mass, control angiogenesis, inhibit fat accumulation and increase bone mass and strength. Acceleron utilizes proven biotherapeutic technologies and capitalizes on the company’s internal GMP manufacturing capability to rapidly and efficiently advance its therapeutic programs. The investors in Acceleron include Advanced Technology Ventures, Alkermes, Bessemer Ventures, Celgene, Flagship Ventures, MPM BioEquities, OrbiMed Advisors, Polaris Ventures, QVT Financial, Sutter Hill Ventures and Venrock. For more information, visit www.acceleronpharma.com
CONTACT:
Acceleron Pharma:
Steven Ertel, 617-649-9234
Vice President, Corporate Development
Paul Kidwell (Media)
Suda Communications LLC
617-296-3854
Details Regarding Study DMD114117 for Duchenne Muscular Dystrophy
August 13, 2010 by CureDuchenne
Filed under Research Articles
Details regarding several of the investigator sites for the following study have been posted to www.orpha.net (the portal for rare diseases and orphan drugs) today:
Study DMD114117: A Phase II, Double Blind, Exploratory, Parallel-group, Placebo controlled Clinical Study to Assess Two Dosing Regimens of GSK2402968 for Efficacy, Safety, Tolerability and Pharmacokinetics in Ambulant Subjects With Duchenne Muscular Dystrophy
Additional study details, including inclusion/exclusion criteria and study endpoints are posted on www.clinicaltrials.gov. Investigator site details for this study, taking place in Europe, Turkey and Australia, will also appear on www.clinicaltrials.gov in the near future.
Sincerely,
John E. Kraus, MD, PhD Padraig Wright, MD, PhD
