Newborn Screening for Duchenne Muscular Dystrophy: Follow-up
Diagnosis and Subsequent Treatment
Hangzhou, China May 6-8, 2016
This meeting brings together U.S., Australian and Chinese experts in Duchenne muscular dystrophy
(DMD) to work with the Chinese team that is instituting newborn screening (NBS) for DMD as well as
with clinicians who will need to design systems and protocols for the follow up of boys with DMD. The
meeting includes experts on current corticosteroid treatment as well as new gene-based approaches
to treatment.
Scholarships for travel and meeting expenses are available for young investigators. Interested
applicants should plan to submit an abstract and present a poster at the meeting. For details contact
Professor Robert Griggs at Robert_Griggs@urmc.rochester.edu
Meeting Agenda – Tentative
May 6, 2016
4 - 6 pm
6 - 8 pm
Registration
Poster Viewing: - Trainees and junior faculty emphasis.
Welcome Dinner – All attendees
May 7, 2016
8:00 - 8:30am
Welcome
Prof. Zhengyan Zhao, Zhejiang University
President Qiang Shu, Hangzhou Children’s Hospital
Prof. Robert Griggs, University of Rochester NY
8:30 - 9:15am
Introductory Address: “The history of newborn screening (NBS) in China”
Professor Zhengyan Zhao
9:15 – 10:00m
KEYNOTE ADDRESS:
“The mandate for early gene therapy in Duchenne muscular dystrophy (DMD)”
Professor Jerry Mendell, Ohio State University
10:00 -10:45am
“DMD newborn screening: public health laboratory innovations”
Professor Veronica Wiley, University of Sydney
10:45 - 11:15 am
BREAK
11:15 - 11:45 am
“The role of DMD advocacy groups in high quality NBS and clinical follow-up”
Dr. Valerie Cwik, Muscular Dystrophy Association
11:45am – 12:15 pm “CK testing in the NBS laboratory, PKI automated solution”
Petra Furu, Perkin Elmer, Finland
12:15 – 1:15pm
LUNCH
1:15 – 2:00pm
“Challenges in the molecular diagnosis of DMD and other genetic myopathies in China”
Professor Ming Qi, Zhejiang University Center for Genetic and Genomic Medicine, and
University of Rochester
2:00 – 2:30 pm
“Development of clinical registries to show improved outcomes with NBS for DMD,
Pompe’s disease, and Spinal muscular atrophy”
Professor Jennifer Kwon, University of Rochester
2:30 – 3:00 pm
“Protocol for short-term follow-up and testing after abnormal NBS screen in Hangzhou”
Professor Ru-Lai Yang, Zhejiang University
3:00 -3:30 pm
BREAK
3:30 – 4:15 pm
“DMD in East China: diagnosis and treatment”
Professor Xihua Li, Fudan University, Shanghai
4:15 – 5:00 pm
ROUNDTABLE: Introducing DMD NBS in China
Moderator: Professor Rodney Howell, University of Miami
Panel: Professors Zhao, Qi, Yang, Mendell and Kwon; Petra Furu (Perkin Elmer)
5:00-6:00pm
Free Time
6:00pm
Dinner
May 8, 2016
8:00 – 8:45 am
“Caring for newborns and infants after neonatal diagnosis of DMD”
Professor Anne Connolly, Washington University School of Medicine
8:45 – 9:15 am
“Protocols for long-term clinical follow-up of children with neuromuscular disease in
Hangzhou”
Professor Qing Ke, Zhejiang University
9:15 – 10:00 am
“Prevention of corticosteroid side effects in patients with neuromuscular disease”
Professor Robert Griggs
10:00 – 10:30 am
Treatment of DMD with deflazacort
Jordon Dubow, Marathon Pharmaceuticals
10:30 – 11:00 am
BREAK
11:00 – 11:30 am
“Maintaining strength in DMD boys through rehabilitative interventions: a program for
children and adults” – (Speaker pending)
11:30 – 12:00 pm
“Pulmonary interventions to improve survival and quality of life”
Professor Daniel Sheehan, University of Buffalo
12:00 – 12:30 pm
“Ethical considerations in NBS for muscular dystrophy and metabolic neuromuscular
diseases”
Professors Jennifer Kwon, University of Rochester and Richard Dees
12:30 – 1:30 pm
LUNCH
1:30 - 2:00pm
Treatment of DMD by Exon Skipping
Dr. Dana Martin, Sarepta Therapeutics
2:00 -2:30 pm
“Treatment of other muscle diseases detected by DMD newborn screening”
Professor Michele Scully Gatheridge, University of Rochester
2:30 – 3:15 pm
“Early treatment of childhood neuromuscular disease: economic considerations”
Professor Emma Ciafaloni, University of Rochester
3:15 -3:45pm
Break
3:45 – 4:45 pm
Panel discussion on DMD care over the lifespan:
Professors Ciafaloni, Connolly, Sheehen, Chaired by Professor Rodney Howell
4:45 - 5:30 pm
Next Steps
Professors Griggs and Zhao