Duchenne in 2013 DUCHENNE IN Cape Town, February 2013

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Marlene Rodgers
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1 Duchenne in 2013 DUCHENNE IN 2013 Cape Town, February 2013 Doug Biggar MD Muscular Dystrophy Foundation Holland Bloorview Doug Kids Biggar Rehabilitation Hospital Capetown, February2013

2 Objectives for today Impact of corticosteroids on natural history Hurdles for new therapies New strategies for treatment Therapeutic dose of HOPE

3 Today Boys Become Adults With Adult Needs

4 Steroids the Good: So most agree that: Corticosteroids help muscle strength They slow the progression of muscle weakness Best to start when boys are walking Best to give once a day, every day if you can Balanced discussion of benefits and risks More studies are needed

5 What is Good? Short-term Most boys, but not all, have more energy Long-term Walking Breathing Heart Spine Arm strength

6 Preserved Muscle Function

7 Walking No corticosteroids stop around 10 years old With corticosteroids walk 3-5 years longer

8 Better Pulmonary Function

9 FVC Percent Predicted PULMONARY FUNCTION Untreated Treated Age in years

10 Pulmonary Function At 18 years, boys on steroids should have: Fewer lung infections A better cough Fewer admissions to hospital for pneumonia Very few need night time ventilation

11 Preserved Cardiac Function

12 Cardiac Function yr. - prospective Control n=26 Deflazacort n=67 P Age NS LVEF (<45%) 70 % 5% <0.001

13 Delayed Scoliosis

14 Scoliosis Surgery No steroids 90% boys done around 15 years Need help feeding after surgery Steroid treated: Only 10%, not 90%, of boys done at years Can self feed after surgery

15 Steroids: the Bad Variable and can include: Shorter height Reduced bone health Weight gain Delayed puberty And more

16 You will be short

17 But that could be good, no?

18 What about bones?

19 What makes bones healthy? Genetics 70-80% Physical activity Other things: calcium, vitamin D etc

20 What about my son s bones? Even young boys have reduced bone density Worse with less walking ~35% break a long bone (leg or arm), with or without steroids Vertebral (back bone) fractures only occur on steroids

21 Soooo..How bad? Probably not worse with deflazacort Risk of fractures: long bones vertebrae Can be treated, if needed More research needed

22 And puberty? It will be delayed. It will happen. But while you are waiting. you will look younger than you are no facial hair high voice BUT no pimples no need to shave

23 And Weight gain, can be bad Some boys are thin, no problem. Some boys gain a lot of weight, even not on steroids- big problem. Most boys: big appetite less active want treats like all boys a real challenge for most families

24 What is the bottom line?

25 This is one bottom line?

26 The bottom line:. The good must be better than the bad Major benefits include improved: Skeletal muscles Pulmonary Cardiac Scoliosis Arm strength

27 Living with Duchenne Can be difficult but many of the issues are not medical but rather psychosocial. I worry less about premature death than my social isolation, adult friends, job. My aspirations are like yours: good job, friends, a partner and family.

29 Therapeutic Strategies Gene transfer Cell therapies Up regulation of alternative proteins Increase muscle bulk Focus on downstream pathology Modify the mutation: exon skipping, stop codon suppression

30 Hurdles for Treatments Animal models Biomarkers Delivery Host immune response Clinical variability Outcome measures

31 Therapeutic Dose of HOPE New understanding Better science and resources Partnerships: parents, science & industry Patient registries Regulators understanding Ethics Review Boards

32 LIFE CAN BE A GOOD RIDE

33 THANK YOU THANK YOU!

34 THANK YOU THANK YOU!

35 CARE Guidelines Consensus process Scientific publication Dissemination to: Families Care providers Policy makers Revise & update

36 Using Knowledge to Improve Care The diagnosis and management of Duchenne Muscular Dystrophy: Lancet Jan/Feb 2010

37 Using Knowledge to Improve Care The diagnosis and management of Duchenne Muscular Dystrophy: Lancet Jan/Feb 2010

38 Bottom Line: Common side effects: Short Delayed puberty Vertebral fragility fractures Weight gain

39 What are the Unknowns? Benefits of prednisone over deflazacort? When is the best time to start? What is the best dose to use at different ages? Do steroids help all boys? Do you ever stop steroids? When will there be a drug with only the good effects and not the bad?

Duchenne Muscular Dystrophy:

Duchenne Muscular Dystrophy: Corticosteroid Treatment PPMD Annual Conference CONNECT Douglas Biggar, Bloorview Kids Rehab, Toronto, Canada. Why Corticosteroids in DMD? Prednisone shown to change the course