MDF Magazine Newsletter Issue 56 August 2018

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MD Italfarmaco discussed Phase 2 data (NCT01761292) on givinostat, a histone deacetylase (HDAC) inhibitor. Increased HDAC activity may trigger inflammation and prevent muscle regeneration in DMD patients. A randomized, doubleblind, placebo-controlled Phase 3 trial (NCT02851797) is currently enrolling more than 200 ambulatory patients, ages 6 to 17, who will be given either 10 mg/mL of givinostat or a placebo twice daily. The study is taking place at sites in the U.S., Canada, and Europe. Mallinckrodt Pharmaceuticals presented preclinical data on its anti-inflammatory candidate, MNK-1411, which received orphan drug designation from the U.S. Food and Drug Administration. MNK-1411 is thought to prevent inflammation by mimicking the adrenocorticotropic hormone, which regulates immune cell function. The company is beginning a Phase 2 trial (NCT03400852) in the U.S. in boys ages 4 to 8. Patients will be randomized to receive a high- or low-dose injection of MNK-1411 or a placebo twice a week. Capricor shared preclinical and Phase 1/2 data (NCT02485938) suggesting that its cell therapy, CAP-1002, could reduce scarring on the heart, and possibly improve upper limb function. A Phase 2 trial (NCT03406780) is actively recruiting both ambulatory and non-ambulatory patients in the U.S. who will be randomized to receive either CAP-1002 or a placebo via intravenous infusion once every three months for 12 months. Improving Muscle Mechanics Five companies also presented data on therapies designed to improve muscle mechanics through a variety of mechanisms. Roche/Genentech and Pfizer both outlined potential treatments that block myostatin, a molecule that tells muscles to stop growing. Roche/Genentech is recruiting ambulatory boys ages 6 to 11 for a Phase 2/3 trial (NCT03039686) in which patients will be randomized to receive 48 weekly injections of RG6206 (also known as BMS-986089) or a placebo. The study is being conducted in several countries, including the U.S., Australia, Argentina, and those in Europe. Pfizer presented preclinical data for its myostatin-inhibiting candidate, domagrozumab. A randomized, double-blind, placebo-controlled Phase 2 trial (NCT02310763) evaluating its effectiveness for DMD is expected to conclude in late 2019. Santhera shared results from its Phase 3 DELOS trial (NCT01027884), suggesting that idebenone may delay the loss of respiratory function in DMD patients who aren’t taking steroids. The company is now conducting another Phase 3 trial, SIDEROS (NCT02814019), which is enrolling ambulant and non-ambulant patients, 10 years and older, currently on steroid treatment, in the U.S. and Europe. Participants will be randomized to take idebenone or a placebo daily for 18 months. The therapy is not yet approved in the U.S. but has become available under an expanded access program, in the country, but an advisory committee in Europe twice recommended against its approval for DMD. Phrixus Pharmaceuticals presented preclinical data on its Carmaseal-HD therapy, a daily injection that may modify the course of the disease by repairing membrane damage. The company hopes the therapy will benefit patients regardless of their individual genetic mutation. The first clinical trial – an open-label Phase 2 study (NCT03558958) – is currently enrolling up to 10 non-ambulatory patients, ages 12 to 25, with respiratory dysfunction, who will take the therapy once a day for 52 weeks at Cincinnati Children’s Hospital. FibroGen discussed its potential fibrosis-preventing therapy, pamrevlumab. The therapy has been tested in trials involving patients with pancreatic cancer and pulmonary fibrosis for safety, and an open-label Phase 2 trial (NCT02606136) in 22 non-ambulatory DMD patients ages 12 and older in the U.S. is ongoing. Patients are receiving a biweekly intravenous infusion of the therapy for up to 156 weeks. Gene Editing The research portion of the conference ended with a panel on gene editing techniques. Dongsheng Duan, PhD; Jeff Chamberlain, PhD; and Melissa Spencer, MD, PhD, tentatively discussed their work and answered questions about CRISPR/CAS9, the breakout gene editing technique adapted about five years ago. While enthusiastic, the presenters were careful to remind parents and patients that forgoing standard DMD care while waiting for CRISPRbased therapies to be developed would not be wise. Researchers are hopeful that CRISPR/CAS9 may be used to delete mutated genes in DMD, or possibly replace them with genes that encode functional proteins. One of the struggles is designing a delivery system. Some scientists are using viruses to deliver the gene editing molecules, while others are working to develop nanoparticles that might be tailored specifically for this purpose. It will be crucial to selectively edit muscular cells, which are less susceptible than others to the risks of gene editing, such as cancer cells. The researchers showed promising animal data, but again emphasized that the technique has a way to go before it might benefit patients. Article online at: https://musculardystrophynews. com/2018/07/06/4-dmd-treatment-approaches-highlightedppmd-conference/ 8
Muscular Dystrophy News, 11 May 2017 Finding out your child has a neuromuscular disorder is an incredibly difficult time for the whole family, but you adjust quickly. While your child’s unlikely to realize they’re different from other children when they’re young, they’ll start to question why they’re different from their peers and siblings as they get older. According to Muscular Dystrophy Canada, there will come a time when you’ll need to sit down with your child and explain their condition and what it means. There is no right or wrong way to tackle this, nor is there any timeframe. It’s generally best to be as honest as you can without overloading your child with information they may not be mature enough to process. Usually, children with neuromuscular disorders will notice they are slightly different from others at a fairly young age. It’s advised to handle any questions as they occur. Explaining how their condition will affect them as they age may be stressful for both parents and child, but it’s important that the topic is handled carefully and sensitively. Shielding children from the truth may backfire if they find out why they’re different or what their disorder means from others. Your child needs to be able to trust you and look to you for guidance. MD How to Talk to Your Child about Their Neuromuscular Disorder By Wendy Henderson Children need to know why their bodies don’t work in the same way as other children’s, as well as what their future may have in store for them. You can explain most disorders in an easy-to-understand way that will help them grasp what’s happening and give them the tools to explain their condition to other people. Explaining that their muscles don’t work properly because they didn’t come with the right instructions or that the nerves in their spine are sending the wrong signals are two easy ways for children to understand the basics of why they can’t do some of the things their friends or siblings can. It’s essential that you take the time to reassure your child that he or she has done nothing wrong and that it isn’t their fault they have a neuromuscular disorder. They also need to know that it’s OK if they sometimes feel sad or angry about their situation. Take time to focus on the positives in your child’s life and all the things they’ll still be able to do, rather than concentrating on the things they won’t be able to do because of their disorder. Try to find some older children who have the same disorder who are living full and active lives for them to look up to. Article online at: https://musculardystrophynews. com/2017/05/11/talking-to-your-child-about-their-neuromuscular-disorder/ Suppliers of Medical Equipment CE Mobility Phone: 0860 236624 Johannesburg, Cape Town, Durban, Port Elizabeth, Pretoria & Rivonia Website: www.cemobility.co.za Impact Medical Supplies Phone: 011 469-1750 E-mail: impactmed@worldonline. co.za Website: www.impactmedical.co.za Clinical Emergencies Phone: 011 443-9093 E-mail: clinical@icon.co.za Website: www.clinicalemergencies. co.za Solutions Medical Phone: 021 592-3370 Website: www.wheelchairs.co.za Medmedical Phone: 011 640-5262 Website: www.medmedical.co.za Medop cc Phone: 011 827-5893/4/5 Website: www.medop.co.za Wheelchairs on the Run (Pty) Ltd Phone: 011 955-7007 Website: www.wheelchairs-ontherun. co.za Radical Mobility Phone: 011 664-6069 E-mail: www.radicalmobility.com Hands on Lifts (Pty) Ltd Phone: 011 918-7060/1 E-mail: lynn@handsonlifts.co.za Website: www.handsonlifts.co.za Chairman Industries Phone: 011 624-1222 Website: www.chairmanind.co.za Flybrother SA Phone: 011 425-4300 Cell phone: 084 777 5105 Website: www.flybrothersa.co.za Jessen Dakile (Pty) Ltd Phone: 011 793-6260 Website: www.jessendakile.co.za Sheer Mobility Phone: 021 552-5563 Cell phone: 082 926 5414 Website: www.sheermobility.co.za Shonaquip Phone: Cape Town 021 797-8239 Phone: Pretoria 012 665-1211 Phone: Port Elizabeth 079 524-4350 E-mail: nina@shonaquip.co.za Website: www.shonaquip.co.za Botlhale Ke Katlego Trading (Pty) Ltd Phone: 083 424 7231 Website: www.bkktrading.co.za 9
Page 1 and 2: Spring Issue 56 August 2018 R25.00
Page 3 and 4: DF Magazine 05 MDF notice board 06
Page 5 and 6: Subscription and contributions to t
Page 7: MD The following two articles were
Page 11 and 12: The DUX4 gene is encoded in a unit
Page 13 and 14: MD When do symptoms appear? Althoug
Page 15: Up until a few years ago there was
Page 19 and 20: Events An athlete with heart By Pie
Page 21 and 22: People “Everyone made me feel so
Page 23 and 24: Living life to the full People By K
Page 25 and 26: The MDF has my attention! By Jason
Page 27 and 28: People A few weeks later, we had a
Page 29 and 30: marker for muscle damage. So far th
Page 31 and 32: Prof Amanda Krause, MBBCh, PhD MB B
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Page 37 and 38: Gauteng Branch Handover of motorise
Page 39 and 40: Huge Thank-You to National Lottery
Page 41: She loved reading, cooking, sewing,

MDF Magazine Newsletter Issue 56 August 2018

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