December 17, 2018 / Community

End Duchenne Tour Recap: Cincinnati, OH

Parent Project Muscular Dystrophy by: Parent Project Muscular Dystrophy

PPMD headed to Cincinnati, OH for our End Duchenne Tour stop on November 17, 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 Cincinnati Children’s Hospital Medical Center for spending their Saturday with us to connect with local families.

Join the Fight

  • Join the Race to End Duchenne team on May 4 and 5 at the 2019 Cincinnati Flying Pig Marathon weekend which offers a variety of races to choose from including a full marathon, a half marathon, 10K, 5K, and 4-person relay. There are also several multi-race challenges, and PigAbilities, which is a noncompetitive 1-mile roll, stroll, or walk for people with disabilities along the final mile of the marathon course. 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!
  • Be sure to save the date for PPMD’s 2019 Advocacy Conference.

Research Updates

Research Overview

Cuixia Tian, MD (Cincinnati Children’s Hospital)

  • Tian explained the different types of studies and phases of clinical trials ongoing in the Duchenne space
  • She 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

Industry Takeaways

  • Capricor – Jennifer Shoskes
  • Catabasis – Joanne Donovan, MD, PhD
  • 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.
  • 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.
  • Roche/Genentech – Tom Wallace, PhD
    • Discussed RG6206 anti-myostatin therapy currently in a phase 2 (SPITFIRE) study.
  • Santhera – Jeff Koester
    • 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
  • Sarepta – Bethany Zanrucha, MSL
    • Discussed 15 therapies currently in development in the areas of RNA-targeted therapies, gene therapy, gene editing (CRISPR), and additional approaches.

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 g@abcedservices.com or by phone: 704-443-2990.

Physical Therapy

Ashlee Bolger, MD, Michelle McGuire, PT & Kelly Bonarrigo, PT (Cincinnati Children’s Hospital)

  • Bolger explained different physical stages of Duchenne across the lifespan, and that there are many things to do and encourage to prevent joint tightness and loss of range of motion.
  • Michelle and Kelly discussed all of the interventions physical therapists can assist with including safe exercise, stretching regimens, and how equipment can enhance independence and function.
  • Download presentation slides

Pulmonary Standards of Care

Neepa Gurbani, DO & John Pascoe, MD (Cincinnati Children’s Hospital)

  • Gubani and Dr. Pascoe presented on the current standards of pulmonary care in Duchenne including types of respiratory testing, equipment, and other treatments.
  • They also explained the importance of preventative treatments, such as using a cough assisted machine to keep your lungs clear, especially if you are ill.
  • Download presentation slides

Cardiology Standards of Care

Chet Villa, MD (Cincinnati Children’s Hospital)

  • Villa reviewed the current standards of caring for the heart including when to start medication, how often to see your cardiologist, and other interventions to keep your heart working it’s best.
  • Download presentation slides

Endocrinology Standards of Care

Meilan Rutter, MD (Cincinnati Children’s Hospital)

  • Rutter discussed the importance of optimal nutrition to avoid potential problems in Duchenne, such as weak bones (osteoporosis) and unhealthy weight gain.

Nutrition

Barb Kyle, RD (Cincinnat Children’s Hospital)

  • Barb discussed healthy eating, making healthy choices, and the advantages of maintaining a healthy weight.

PPMD & Community Speakers

Genetics, Your Family, and The Duchenne Registry

Kevin Counterman (PPMD)

  • Kevin 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?

Kathi Kinnett, MSN, CNP (PPMD)

Race to End Duchenne

Join the Race to End Duchenne team on May 4 and 5 at the 2019 Cincinnati Flying Pig Marathon weekend which offers a variety of races to choose from including a full marathon, a half marathon, 10K, 5K, and 4-person relay. There are also several multi-race challenges, and PigAbilities, which is a noncompetitive 1-mile roll, stroll, or walk for people with disabilities along the final mile of the marathon course. 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 Cincinnati Children’s Hospital Neuromuscular Clinic team 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*:

*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.

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