PPMD headed to Palo Alto, CA for our End Duchenne Tour stop on November 3, 2018. Many families and members of the Duchenne community came together to learn about the latest information and resources for Duchenne families. PPMD was grateful to providers from Stanford, UCSF, and UC Davis for spending their Saturday with us to connect with local families.

Join the Fight

• Join the Race to End Duchenne team on March 3 at the 2019 Napa Valley Marathon series, which offers a full marathon, a half marathon, and a 5K. Runners follow the Silverado Trail from Calistoga to Napa passing beautiful scenery, vineyards, and wineries along the way. For more information or to register, visit the Race to End Duchenne website or contact Nicole Herring at nicole@parentprojectmd.org.
• The Decode Duchenne program, offering free genetic testing and counseling for people with Duchenne, is now available for carriers – learn more!
• The Northern California PPMD Connect group offers social and educational activities, as well as provides a wonderful support system for families to share and learn together. To be connected to a coordinator directly via email, please contact connect@parentprojectmd.org. You can also join the Facebook Group.

Research Updates

Research Overview

Jacinda Sampson, MD, PhD (The Stanford Clinics)

• Dr. Sampson reviewed the different types of studies and phases of clinical trials.
• She also discussed the various types of therapies, including: dystrophin restoration and replacement (i.e. exon skipping and gene therapy), muscule growth and regeneration (anti-myostatin), anti-inflammatory (steroid replacement drugs), cardiac therapies, and mitochondrial therapies.
• Download presentation slides

Reivew of Current Trials

Lisa Wiliams, MD (University of California, Davis)

• Dr. Williams discussed treatments that have affected the natural history of Duchenne including steroids, and treatment of scoliosis, pulmonary, and cardiac issues.
• Download presentation slides

Industry Takeaways

• Sarepta – Karin Lucas, PhD
  • Discussed 15 therapies currently in development in the areas of RNA-targeted therapies, gene therapy, gene editing (CRISPR), and additional approaches.
• Santhera – Rebeccca Persinger, PhD
  • Discussed idebenone, an investigational drug to improve pulmonary function. Completed DELOS phase 3 trial for patients not on steroids, and currently still enrolling for SIDEROS trial for individuals on steroids.
  • Download presentation slides
• Roche/Genentech – Lisa Mitsunaga, PhD
  • Discussed RG6206 anti-myostatin therapy currently in a phase 2 (SPITFIRE) study.
• PTC – Brett Billmeyer
  • Discussed ataluren and Emflaza ,plus others in pipeline for other rare disease. PTC Cares is a program to help families receive access to Emflaza if they cannot get it covered through insurance.
• Pfizer – Rodger Kobes, MD
  • Discussed how PF-06939926 gene therapy uses a mini-dystrophin gene with a muscle-specific promoter targeted to cardiac and skeletal muscle. Three boys have been infused so far in the trial, and there will be a total of 12.
• FibroGen – Jessica Charpentier
  • Discussed Pamrevlumab, an investigational agent for treating fibrotic and fibro-proliferative diseases.
  • Download presentation slides
• Catabasis – Joe Johnston
  • Discussed Edasalonexant (CAT-1004) which has shown improvement in biomarkers, muscle MRI, and functionality. Their phase 3 POLARIS DMD trial is currently recruiting at several sites in CA.
  • Download presentation slides
• Capricor
  • Distributed material for their HOPE-2 clinical trial to evaluate CAP-1002’s affect on cardiac function. Currently enrolling at UC Davis.

Care Highlights

Navigating the Challenges of School

Denise Gruender (ABC Educational Services)

• Denise offers solutions for parents to help children with academics (learning styles, homework, testing), independence, behavior, discipline, and many other issues.
• To reach Denise at ABC Educational Services, you may email her office manager at erika.g@abcedservices.com or by phone: 704-443-2990.

Neuromuscular Standards of Care

Jonathan Strober, MD (University of California, San Francisco)

• Dr. Strober explained the multidisciplinary approach, meaning it takes a village to care for Duchenne patients and families.
• Rehabilitation management is important throughout the lifespan, including assessing function, strength, and range of motion and working closely with PT, OT, and/or PM&R specialists.
• Your neuromuscular specialist will manage steroid therapy which includes signs, symptoms, and management of adrenal insufficiency, which is a medical emergency.
• Download presentation slides

Endocrine & Bone Health

Prasanth Surampudi, MD (University of California, Davis)

• Dr. Surampudi reviewed how muscle weakness and decreased mobility, in addition to steroid use, all lead to decreased bone density and increased risk for fractures. IV bisphosphonates are recommended for patients who are found to have osteoporosis.
• Download presentation slides

Physical Therapy

Tina Duong, MPT (Lucile Packard Children’s Hospital at Stanford)

• Tina emphasized that there are different goals at different stages, and PTs are here to help your son move and adapt. If there’s a will, there’s a way!
• Evidence has shown that people with Duchenne have better range of motion if on steroid therapy.
• Exercise is good as long as you don’t overdo it – don’t be afraid to participate in activity as long as it is safe!
• Download presentation slides

Transitional Care

Jacinda Sampson, MD, PhD (The Stanford Clinics)

• Dr. Sampson highlighted that it is important for adolescents to begin to take charge of their health including knowledge of diagnosis, medications, contacting your care team, and providing your personal input during discussions around your medical care.
• Download presentation slides

PPMD & Community Speakers

Genetics, Your Family, and The Duchenne Registry

Ann Martin, MS, CGC (PPMD)

• Ann discussed the goal of The Duchenne Registry: to educate and connect the entire Duchenne and Becker community, including patients and families, healthcare providers, researchers, and industry professionals.
• The Decode Duchenne program offers free genetic testing and counseling for people with Duchenne and Becker, and is now available for carriers – learn more!
• If you have any questions about the inheritance of Duchenne (such as the chance of Duchenne recurring in your family), or questions about genetic testing (such as mutation-specific clinical trials), please contact one of PPMD’s genetic counselors at 888-520-8675 or coordinator@duchenneregistry.org.
• Download presentation slides

Who is PPMD?

Annie Kennedy (PPMD)

• Annie provided an overview of PPMD and a focus on the impact of Duchenne advocacy on therapy development. Be sure to save the date for the 2019 Advocacy Conference!
• Since so many families from our teen and adult community were in attendance, Annie highlighted newly published tools and resources including the Transitions Tool Kit that was just published as a part of the Duchenne Supplement in Pediatrics and all of the sessions from our Transitions Conference last summer, which are archived on PPMD’s website.
• Download presentation slides

PPMD Connect

Julie Garcia, Leeandra Archdeacon (PPMD Connect Coordinators)

• The Northern California PPMD Connect group offers social and educational activities, as well as provides a wonderful support system for families to share and learn together.
• To be connected to a coordinator directly via email, please contact connect@parentprojectmd.org. You can also join the Facebook Group.

Race to End Duchenne

Join the Race to End Duchenne team on March 3 at the 2019 Napa Valley Marathon series, which offers a full marathon, a half marathon, and a 5K. Runners follow the Silverado Trail from Calistoga to Napa passing beautiful scenery, vineyards, and wineries along the way. For more information or to register, visit the Race to End Duchenne website or contact Nicole Herring at nicole@parentprojectmd.org.

 

Thank You!

Thanks to the clinics and everyone else who helped make this day possible!

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*:

• Las Vegas, Nevada – February 2, 2019
• Omaha, Nebraska- March 30, 2019
• Portland, Maine – April 27, 2019
• Wilmington, Delaware – Fall 2019
• Memphis, Tennessee – Fall 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.