PPMD had the opportunity to travel to Portland, ME on April 27 for our third End Duchenne Tour stop of 2019.

We were joined by 14 local families, 11 of our industry partners, and 3 clinicians from Massachusetts General Hospital. This group of about 50 people was extremely engaged, and it was amazing to see the support offered to one another.

 

 

Join the Fight

• Join the Race to End Duchenne Team at Boston’s Run to Remember on Sunday, May 26th or the Rockfest Half Marathon & 5K, on Sunday, October 6th in Hampton Beach, NH: There are multiple race distances to choose from. Help us raise funds and awareness by joining others who are also committed to ending Duchenne. For more information or to register, visit the Race to End Duchenne website or contact Nicole@parentprojectmd.org.
• Stay in touch with the community by joining PPMD’s Connect, the official volunteer, parent-led outreach program of Parent Project Muscular Dystrophy. Become involved at both in person events and in a closed social media group made up of other Duchenne and Becker families. If you would like to learn more, you can reach them through email (ambeck2222@yahoo.com) or through the Facebook group.
• The Decode Duchenne program, offering free genetic testing and counseling for people with Duchenne, is now available for carriers – learn more!

Research Updates

Industry Takeaways

• Catabasis, Maria Mancini – discussed edasalonexent (CAT-1004) program, a small oral molecule designed to inhibit NF-kB for the treatment of Duchenne. Phase III, for all mutations. Enrolling 4 to 8 year olds, 2:1 randomizations, enrolling 125 boys (download presentation slides).
• Italfarmaco, Ana Christensen – gave an update on Givinostat development. Ana gave a thorough background on how givinostat works, as well as data from recent clinical trials (download presentation slides).
• PTC, John Wing, PhD – gave history of PTC and their longterm commitment to Duchenne.
• Santhera, Teresa Chu – explained the role of mitochondria in the disease progress of Duchenne, respiratory dysfunction in Duchenne, and discussed Idebenone in Duchenne (download presentation slides).
• Pfizer, Michael Binks – discussed domagrozumab (anti-myostatin inhibitor) and the termination of the program, as well as the mini-dystrophin gene therapy program.
• Casimir, John Campbell – introduced Casimir and the company’s background. Discussed ways to use videos as endpoints in clinical trials for Duchenne.
• Sarepta, Bethany Zanrucha – discussed Sarepta’s gene therapy approach and methods/concerns over redosing.

Care Highlights

Navigating Challenges with School, Learning, and Behavior

Denise Gruender (ABC Educational Services)

• Denise traveled with us to share her expertise about navigating challenges with school, learning, and behavior.
• She met individually with families throughout the day to share tips, tricks, and resources to aid in homework, learning disabilities, home structure, sensory issues, and motivation problems.
• To contact Denise, please email her office manager erika.g@abcedservices.com or by phone 704-443-2990.

Physical Therapy

Heather Salon, PT, DPT, NCS (Massachusetts General Hospital)

• Discussed safety, flexibility, posture, exercises to maintain mobility.
• Finding a balance between too much activity and too little activity.
• Shared options for exercise and physical activities – stressed doing activities that children do that are non-weight bearing or low load (for ex. swimming, adaptive bicycles and sports).
• Reviewed the stretching basics and discussed the pros and cons of scooters and power wheelchairs.
• Download presentation slides

Neuromuscular

David Dredge, MD (Massachusetts General Hospital)

• Discussed neuromuscular standards of care, specifically steroid treatment and emergency care management.
• Download presentation slides

Psychosocial

Molly Colvin, PhD ABPP (Massachusetts General Hospital)

• Discussed the psychosocial care in Duchenne, specifically geared to younger (adolescence) boys. Assesses the “big picture” – cognitive skills, emotional and behavioral skills, and social skills. Explained the role of dystrophin in the brain, and why we see a greater prevelance of neurodevelopmental conditions in Duchenne.
• Download presentation slides

PPMD & Community

About PPMD

Kathi Kinnett, MSN, APRN (PPMD)

• Kathi spoke about PPMD’s core tenants including PPMD’s efforts in Care (including the Certified Duchenne Care Centers), Advocacy, Research, and Community Engagement.
• One way to get involved and meet others in the community is at the PPMD 2019 Annual Conference June 26 – June 30 in Orlando, FL. As mentioned, we offer a Newly Diagnosed Scholarship for families with who have received the diagnosis after January 2017.
• Download presentation slides: About PPMD
• Download presentation slides: Research

Genetics, Your Family, and The Duchenne Registry

Kevin Counterman (PPMD)

• Kevin gave an overview of the genetics in Duchenne and Becker muscular dystrophy, and explained the types of mutations in the dystrophin gene.
• He also spoke about Decode Duchenne and the importance of The Duchenne Registry. If you have not registered, please do. If you have registered, please update your information!
• Download presentation slides

PPMD’s Connect

Amanda Becker & Linda Currier

• Thank you to Amanda Becker & Linda Currier for introducing PPMD’s Connect New England, our parent-led volunteer outreach group. Family members can connect with other families via the Facebook group and future in-person get togethers. For more information email Amanda at ambeck2222@yahoo.com.

Race to End Duchenne

Brian Denger, a parent and longtime runner, encouraged attendees to sign up for the Race to End Duchenne team at one of two upcoming races:

• Boston’s Run to Remember on Sunday, May 26. This race series features half marathon and 5 mile distances and follows some of the famed Boston Marathon race route.
• Rockfest Half Marathon & 5K, which takes place Sunday, October 6 in Hampton Beach, NH.

Race to End Duchenne is a great way to take action, raise funds and awareness and involve friends and family members in the fight to end Duchenne. Visit our website to register for either race.

Thank You!

A huge thank you to Brian Denger and Amanda Becker for helping secure our location and Maine resources, and to Amanda for securing all of the amazing Kids Room volunteers. It was a pleasure spending the day in Portland!

Next Up

In an effort to reach every single family facing a Duchenne diagnosis in the U.S., PPMD’s End Duchenne Tour brings updates on research, advocacy, and care to cities across the country, featuring a roster of leading experts in the Duchenne space.

You have told us what topics are the most important to you and we have listened, using your feedback to inform our robust agenda at each tour stop. This is also an opportunity to connect with local families and, when possible, explore your area Certified Duchenne Care Center.

As always, each meeting is free with breakfast and lunch provided. Kids are also welcome to attend and participate in PPMD’s Kids Track.

Upcoming 2019 Schedule*

• Wilmington, DE – September 14, 2019
• Memphis, TN – October 26, 2019

*Registration typically opens 1-2 months prior to each event. Visit EndDuchenne.org/Tour for more details and make sure you are signed up to receive emails from PPMD to be notified when registration opens.

PPMD Annual Conference

Registration is officially open for the PPMD 2019 Annual Conference June 26 – June 30 in Orlando, FL. We hope to see you there!