Monday, April 30, 2018

Neuroscience Center
Conference Room C/D
6001 Executive Blvd
Bethesda, Maryland 20892

Meeting Agenda

8:30 – 8:45

Welcome and introductions

Walter Koroshetz, MDCC Chair

8:45 – 9:05

NIH Report

Walter Koroshetz, NINDS
9:05 – 9:15

Conflict of interest policies and general meeting information

Glen Nuckolls, MDCC Executive Secretary


Presentations by New MDCC Patient Organization (ad hoc) Members

Grace Pavlath, Muscular Dystrophy Association of America

Gustavo Dziewczapolski, Cure CMD (congenital muscular dystrophy)
Ryan Fischer, Parent Project Muscular Dystrophy
10:00-10:15 Break
10:15-10:30 Presentations by New MDCC Federal Agency (ad hoc) Members
10:30-10:45 Kimberly Richey, Department of Education
Eugene Freund, Centers for Medicare and Medicaid Services
Natalie Street, Centers of Disease Control and Prevention

Meeting Reports

Muscular Dystrophy Association Clinical Conference Grace Pavlath, MDA

National Duchenne Clinician Conference – PPMD
Ryan Fischer, PPMD



Lessons Learned from Drug Approvals in Rare Neuromuscular Diseases


Session Overview and Goals
Kenneth H. Fischbeck, NINDS


Facilitating SMA patient access to new treatments
Kenneth Hobby, Cure SMA


Facilitating DMD patient access to new treatments
Annie Kennedy, Parent Project Muscular Dystrophy

2:00-2:30 Lessons learned by physicians and professional societies
Nicholas Johnson, University of Utah

Facilitating access to treatments through Medicare, Medicaid and CHIP
Eugene Freund, Center for Medicare and Medicaid Services


MDCC group discussion of lessons learned from recent drug approvals

Considering strategies for all dystrophies to promote access to new drugs and facilitate integration of new treatments into the standards of care.


Closing remarks

Walter Koroshetz, NINDS

4:30 Adjourn



Meeting Summary


Meeting Summary
Muscular Dystrophy Coordinating Committee
April 30, 2018

The Muscular Dystrophy Coordinating Committee (MDCC) met on April 27, 2016, in Bethesda, MD.  As Chair of the Committee, Walter Koroshetz, M.D., Director of the National Institute of Neurological Disorders and Stroke (NINDS), led the meeting, together with Glen Nuckolls, Ph.D., MDCC Executive Secretary.  The entire meeting was held in open session in accordance with Public Law 92-463.

Welcome and Introductions

Dr. Koroshetz welcomed participants and noted since that the confirmation of the new members is ongoing, several participants are attending this meeting as Ad Hoc members. 

Dr. Koroshetz gave an overview of the NIH’s funding by institute and by disorder subtype within the NIH muscular dystrophy (MD) portfolio.  He noted that NIH funding at all stages of research has the potential to advance the treatment, care, and understanding of muscular dystrophy and other neuromuscular disorders.  Dr. Koroshetz highlighted several scientific advances in the muscular dystrophy field, including studies of CRISPR technology to develop gene editing therapeutics for DMD, studies aimed at optimizing corticosteroid treatment in DMD and other dystrophies, a method for expanding skeletal muscle stem cells and development of new mouse models for FSHD. 

New Member Presentations:  

Dr. Grace Pavlath, Muscular Dystrophy Association of America (MDA) presented on MDA’s renewed emphasis on their “four Cs”; Cure, Care, Champion and Community.  She focused on the creation of the NeuroMuscular ObserVational Research (MOVR) Data Hub to advance translational efforts.  Longitudinal data has been collected on nearly 3000 patients ALS, SMA or Duchenne/Becker Muscular dystrophy. This pilot will be expanded to encompass four additional diseases and thousands of new patients.  The hope is that this large data hub will enable collaboration, increase participation in clinical trials, and allow better data access. Dr. Pavlath also highlighted the new MDA ONEvoice Community Survey which has been implemented to better understand and meet the needs of patients and families.

Dr. Gustavo Dziewczapolski, Cure CMD (congenital muscular dystrophy) presented on the structure and goals of CureCMD.  While there are potentially hundreds of congenital muscular dystrophies, CureCMD focuses on high priority subtypes associated with five specific genes: alpha dystroglycanopathy (Walker-Warburg, Fukuyama, Muscle-Eye-Brain, and several Limb-girdle muscular dystrophies), Collagen VI (Bethlem myopathy and Ullrich dystrophy), laminin A2 (LAMA2) (Merosin Deficient and Merosin Negative CMD), and sentrin-specific protease 1 (SENP1) (Rigid Spine dystrophy and multi-minicore disease).  CureCMD had a scientific conference in 2016 and announced the newest round of awardees of their 2018-19 International Research grants. Ana Ferreiro (Paris), Francesco Muntoni (UK), Markus Ruegg (Switzerland). Dr. Dziewczapolski also highlighted the establishment of an international patient registry with >2500 patients from >30 disorders.

Mr. Ryan Fischer, Parent Project Muscular Dystrophy (PPMD) presented PPMD’s activities within the pillars of their organization: research, advocacy, care, and education.  PPMD has worked with various public and private partners to advance the development of therapies and the participation of patients in clinical trials.  Mr. Fischer highlighted PPMD contributions to the FDA Guidance for Industry on drug development for DMD, which was finalized in Feb. 2018.  PPMD also supported research on clinical trial participation, which resulted in an important recent publication (Peay et al, 2018).  PPMD hosts several meetings throughout the year that vary their focus among patient outreach (e.g. Duchenne Patient-Focused Compass Meeting), clinician education and collaboration (e.g. Exploring Master Protocol for DMD), research topics, and advocacy discussions.

Ms. Kimberly Richey, Department of Education presented on the Office of Special Education and Rehabilitative Services (OSERS) and highlighted OSERS’s role in creating access to education for children and young adults with disabilities.  Ms. Richey emphasized that her department serves individuals with disabilities from birth through age 21, with a mission to improve education and occupational outcomes by providing financial support and technical assistance to States, parent training and education systems.  They have a congressional mandate to serve the disabled community and provide special education, related rehabilitation, and other services. Individualized education plans or vocational support may be available to children with muscular dystrophy through IDEA Part B.

Dr. Eugene Freund, Centers for Medicare and Medicaid Services (CMS), gave an overview of CMS’s structure and responsibilities.  He noted that CMS administers 4 main programs: Medicare, Medicaid, CHIP and the Marketplace. Over 130 million people get health coverage through CMS making it the largest health insurer in the nation. He outlined the inclusion criteria for each program and gave some examples of resources available from CMS.  He noted that different muscular dystrophy patient populations would receive coverage from different branches of CMS and each branch has their own policies and criteria for benefit access.

Dr. Catharine Riley, Health Resources and Services Administration (HRSA), presented an overview of HRSA’s role in muscular dystrophy healthcare and highlighted her work on the newborn screening advisory panel.  Dr. Riley is in the Newborn Screening Lead in the Genetic Services Branch, Division of Services for Children with Special Health Needs at the Health Resources and Services Administration, which provides early and continuous screening, improved access to comprehensive and coordinated care, and works with families, patients and communities to provide access to necessary care and transition to adult services as needed. She is the Designated Federal Official for the Advisory Committee on Heritable Disorders in Newborns and Children which advises the Secretary of the Department of Health and Human Services regarding the Recommended Uniform Screening Panel (RUSP).  She gave an overview of the status of several disorders, including SMA (which was added to the RUSP on <date>). She discussed the criteria for inclusion and ways in which the muscular dystrophy community could learn from other disease communities to advance newborn screening efforts.

Ms. Natalie Street, Centers of Disease Control and Prevention (CDC), focused on the two different aspects of CDC’s Muscular Dystrophy program: the Duchenne Care considerations and the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).  The 2018 Duchenne Care Considerations are a set of clinical recommendations for clinicians to optimize care for patients with Duchenne muscular dystrophy.  In 2018, previously published care considerations for DMD were updated, and considerations for endocrine and bone health, emergency care and transitions of care across lifespan were added. The MDSTARnet is a population-based surveillance in 6 states originally developed to collect information on the incidence of DMD, but recently expanded to include myotonic, limb-girdle, facioscapulohumeral, congenital, distal, oculopharyngeal, and Emery-Dreifuss muscular dystrophies.  This network has produced numerous publications based around natural history and has provided important data that contributed to a recent FDA drug approval.

Meeting Reports

Dr Grace Pavlath presented on the recent MDA Clinical Conference – Changing Landscape of Neuromuscular Disease. During this year’s clinical conference there were three major sessions: What is New? (Overview of the field for six major neuromuscular disorders), Advances in Personalized Medicine, and Best Practices in Cross Cutting Themes across neuromuscular disease care and therapy (i.e. cardiac, bone, dysphagia and nutrition, respiratory, care coordination, telemedicine, and transitions to adult care).  There was a session discussing strategies to promote newborn screening for the muscular dystrophies. There will be an expanded conference April 14-17, 2019 in Orlando, Florida.  This conference will combine the scientific and clinical communities, who previously had separate MDA sponsored meetings.

Ryan Fischer presented an overview of PPMD’s National Duchenne Clinician Conference which had representatives from many clinical disciplines.  The meeting was timely because the updated and expanded CDC Duchenne Care Considerations had been published a month previously. PPMD has a program for recognizing clinical centers that comply with the standards of care that have been established in the Duchenne Care Guidelines (“Certified Duchenne Care Centers”).  The conference was an opportunity for clinicians outside of the Certified Duchenne Care Center program to interact with those certified centers to promote standardize care for all Duchenne patients.  PPMD plans to make this meeting an annual event. 

Dr. Heather Rieff (NINDS) presented a plan for an evaluation of the Wellstone Muscular Dystrophy Research Centers Program.  The Wellstone Centers were first funded in 2003 following their authorization in the MD Care Act of 2001.  There are currently six funded centers conducting basic translational and clinical research in many forms of muscular dystrophy.  This will be the first formal assessment of the program.  A working group of the NIAMS council will inform the evaluation.  This summer, a request for information will be published for members of the muscular dystrophy community to provide input on the Wellstone Centers program.

Afternoon Topic: Lessons Learned from Drug Approvals in Rare Neuromuscular Diseases

The afternoon session was moderated by Dr. Kenneth Fischbeck, Neurogenetics Branch Chief, NINDS intramural research program.  Dr. Fischbeck began the discussion with an overview of recently approved therapeutics in rare neuromuscular diseases.  He noted that access to these new drugs by patients who may benefit is affected by the drug costs, insurance coverage and other logistical issues.  An important lesson to be learned from recent events is the need to collect data on disease burden and quality of life, which may inform decisions of insurance coverage, in anticipation of the drug approval. 

Mr. Kenneth Hobby, President of the patient organization CureSMA described data on access to the drug Spinraza collected through their organization’s patient registry.  This data has been quite useful in developing strategies to monitor and improve access. Ms. Annie Kennedy, the Senior Vice President for Legislation and Public Policy with PPMD, presented on lessons learned after the approval of Exondys51 for the treatment of certain patients with DMD.  She described successful efforts by their organization in anticipation of the drug approval to develop relationships with public and private payers and assist the CDC in establishing a disease specific ICD needed to conduct research on health economics and outcomes.  They now provide access and coverage resources through their website and monitor outcomes through their registry.  For both the SMA and DMD patient communities, many of the initial obstacles have been overcome and access has improved.  The patient groups were able to provide education to patient populations, providers, and payers that have managed expectations, improved and increased therapy access and increased willingness of payers to reimburse associated costs. 

Dr. Edward Kaye, Chief Executive Officer of Stoke Therapeutics, described his experiences with six different therapeutics that have gone through to full approval, and the unique difficulties that have arisen each time.  A lesson learned is that adult patients have had difficulties receiving therapies that were tested in severe pediatric conditions, as seen with Spinraza and Myozyme for Pompe disorder.  Conversely therapies unique to adult or slowly progressing disorders face unique challenges during approval, such as trials of a long duration required to measure an effect.    Dr. Kaye emphasized the need for sufficient understanding of the natural history of the disorder before designing clinical trials, and the need for outcome measures that are relevant to daily activities.  He reinforced a theme of this session that drug approval can be just the beginning of determining how the drug should be used and who should be treated.  

Dr. Nicholas Johnson, Virginia Commonwealth University and Chair of the American Academy of Neurology (AAN) Drug Pricing Task Force provided the perspectives of a practicing physician and member of a professional society.  He noted that investments in rare diseases have increased since the Orphan drug act of 1983, and there are many clinical trials are underway in rare disorders, especially in neurology.  He explained that complexities in drug distribution systems and limited drug choices for rare diseases contribute to high drug costs and increase institutional risks.  When drugs are approved before the data from clinical trials is published, this contributes to the steep learning curve for physicians who care for the patients.  The AAN plays an important role in collecting data and providing educational resources to its members.

Dr. Eugene Freund, MSPH Medical Officer Center for Consumer Information and Insurance Oversight, CMS, noted that the health care system is complex, and many hurdles exist that can and do prevent access to expensive, novel, and specialized therapies.  Approval for reimbursement can be different in each state, which makes it difficult to streamline the process.  Dr. Freund noted that CMS is cognizant of the entire lifetime of the patient and focuses on sustainable services. 

There was a general discussion about improving access and hurdles that exist presently.  These comments included acknowledging that present reimbursement models are not optimized for treatments that are expensive and intended only for a few patients. Participants discussed how complexities of the US healthcare system prevent easy solutions.   It was suggested that the process of accelerated approval by the FDA, which allows for drug marketing while still collecting additional data on its clinical efficacy, leads to misunderstanding by payers as to whether the treatment is still experimental or appropriate for coverage.

Dr. Koroshetz summarized the afternoon discussion.  He highlighted the need for collaboration in data collection and analysis to prepare for drug approvals and to monitor success in the transition between new approvals and advancing the standard of care.  Several presenters recommended items to develop a checklist in preparing for drug approvals to accelerate the implementation of new treatments and improve access.  It is important to manage expectations and keep in mind that the approval is not the end of the race. 

Potential action item A checklist of items to consider during approval processes that would help reduce or eliminate obstacles to access.

Committee Roster
Muscular Dystrophy Coordinating Committee

In attendance

Chairperson –
Koroshetz, Walter Joseph, MD
National Institute of Neurological Disorders and Stroke
National Institutes of Health

Bianchi, Diana, MD
Eunice Kennedy Shriver National Institute of Child Health and Human Development
National Institutes of Health

Dziewczapolski, Gustavo PhD
Scientific Director

Fischer, Ryan
Senior Vice President, Community Engagement
Parent Project for Muscular Dystrophy

Hesterlee, Sharon, PhD
Evp Patient Advocacy and Public Affairs
Pfizer, Inc.

Jillapalli, Devanand, MD
Medical Officer
Office of Orphan Products Development
Office of The Commissioner
Food and Drug Administration

Katz, Stephen I., PhD, MD
National Institute of Arthritis And Musculoskeletal And Skin Diseases
National Institutes of Health

Kiley, James P., PhD
Division of Lung Diseases
National Heart, Lung, and Blood Institute
National Institutes of Health

Pavlath, Grace, PhD
Senior Vice President and Scientific Director
Muscular Dystrophy Association

Perez, Daniel Paul
President and Chief Executive Officer
Facioscapulohumeral Muscular Dystrophy Society, Inc.

Riley, Catharine, PhD, MPH
Newborn Screening, Genetics Services Branch, Maternal and Child Health Bureau
Health Resources and Services Administration

Salzar, Wanda L., MD
Congressionally Directed Medical Research Programs
U.S. Army Medical Research and Materiel Command

San Agustin, Theresa B., MD
Program Manager
National Institute on Disability, Independent Living and Rehabilitation Research
Administration for Community Living

Spencer, Melissa S.
Deputy Associate Commissioner
Office of Disability Policy
Social Security Administration

Street, Natalie, MS
Health Scientist
National Center for Birth Defects and Developmental Disability
Centers for Disease Control and Prevention

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