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MDCC April 27, 2016

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Upcoming MDCC Meeting

April 30, 2018

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

Please note the October 4, 2017 meeting has been canceled.

Wednesday, April 27, 2016

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

Meeting Agenda

8:30 am

Welcome and introductions

Stephen I. Katz, MDCC Chair

8:45 am

Conflict of interest policies and general meeting information

Glen Nuckolls, MDCC Executive Secretary

8:55 am

New member presentation

Plavi Mittal, Jain Foundation

Meeting Reports

9:15 am

Pulmonary Outcome Measures for Duchenne

Abby Bronson, Parent Project Muscular Dystrophy
 

2016 MDA Clinical Conference

Valerie Cwik, Muscular Dystrophy Association

9:45 am

Topic I: Sharing of clinical trial data through public/private partnerships

Using ClinicalTrials.gov and Other Sources of Information about Clinical Trials

Deborah Zarin, Lister Hill National Center for Biomedical Communications, National Library of Medicine

10:20 am

Break

10:30 am

The Duchenne Regulatory Science Consortium – A public-private partnership to facilitate sharing of clinical data for the development of regulatory tools to accelerate drug development.

Jane Larkindale, Duchenne Regulatory Sciences Consortium, Critical Path Institute

11:00 am

Discussion of data sharing

11:30 am

Topic II: Patient access to care, services and medical equipment

Facilitating Mobility and Workforce Integration

Annie Kennedy, Parent Project Muscular Dystrophy

12:00 pm

Lunch

12:45 pm

Access to Genetic Testing and Interdisciplinary Care

Kristin Stephenson, Muscular Dystrophy Association

Applying for Disability Benefits: The SSA Perspective

Michael Goldstein and Alayna Ness, Office of Disability Policy, SSA

CMS Resources and Services

Terri Postma, Centers for Medicare & Medicaid Services

2:15 pm

Discussion of possible activities through MDCC to address access issues

3:00 pm

Break

3:15 pm

Topic III: Data on the NIH supported muscular dystrophy research workforce

Glen Nuckolls, NINDS

3:35 pm

Discussion of workforce analysis and other data mining

4:10 pm

OnPAR: A Public/Private Partnership for Supporting Research

Tom Cheever, NIAMS

4:15 pm

Closing remarks

Stephen I. Katz

Meeting Summary


Welcome and Introductions
New Member Presentation
Meeting Reports
Topic I: Sharing of clinical trial data through public/private partnerships
Topic II: Patient access to care, services and medical equipment
Topic III: Data on the NIH supported muscular dystrophy research workforce


The Muscular Dystrophy Coordinating Committee (MDCC) met on April 27, 2016, in Bethesda, MD.  As Chair of the Committee, Stephen I. Katz, M.D., Ph.D., Director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), 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. Katz welcomed participants and noted that several committee members have been confirmed for the upcoming year’s slate: Michael Fox, Sc.D., Centers for Disease Control and Prevention; Plavi Mittal, Ph.D., Jain Foundation; Melissa Spencer, Social Security Administration (SSA); and Catherine Y. Spong, M.D., Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).  Sharon Hesterlee, Ph.D., representing the Myotonic Dystrophy Foundation, participated in the meeting as an ad hoc member since her membership is pending.

Dr. Katz thanked members for their work on the MDCC’s Action Plan for the Muscular Dystrophies and mentioned a number of activities related to the Plan: an editorial in Muscle and Nerve; an NIH press release; and a lay summary of the Plan, which is posted on the MDCC website.

Dr. Katz noted a number of follow-up items from the November MDCC meeting, including the formation of a communications subcommittee (contact Dr. Tom Cheever, NIAMS, if interested) and a database to collect activities related to the areas in the Action Plan, which was presented at this meeting.


New Member Presentation: Plavi Mittal, President and CEO, Jain Foundation

Dr. Mittal described the mission of the Jain Foundation -- to cure muscular dystrophies caused by dysferlin protein deficiency, which include the clinical manifestations of limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy.  The foundation’s efforts include: funding basic science; developing research tools, including antibodies, iPSCs, cell assays, and mouse models; determining the natural history of the disease; and improving diagnosis.  The Foundation supports a natural history project in 15 centers in 8 countries, with over 200 subjects.  To overcome challenges in diagnosis of LGMD, the foundation developed an online diagnostic tool – the automated LGMD Diagnostic Assistant (ALDA) – and patients can apply for free sequencing to confirm diagnosis.  The Jain Foundation has put out a Request for Proposals (RFP) for next generation sequencing to identify all LGMD subtypes.


Meeting Reports

Pulmonary Outcome Measures for Duchenne, Abby Bronson (Parent Project Muscular Dystrophy): The meeting focused on assessing current pulmonary outcome measures in Duchenne and addressing issues such as outcome measures appropriate for older boys, preparing for clinical trials, and providing regulatory guidance.  Recommendations from the meeting included the need for standardization of tests and predicted values, the importance of training of clinical evaluators, increased sensitivity for some measures, and the development of inclusion and exclusion criteria.  PPMD is in the process of finalizing these recommendations.

2016 Muscular Dystrophy Association (MDA) Clinical Conference, Valerie Cwik (MDA): This biennial meeting brings together clinical care teams, focused on standardizing and improving patient care.  This year’s meeting was in partnership with the American Association of Neuromuscular and Electrodiagnostic Medicine.  Themes from this year’s conference included the need for genetic counselors, encouraging the next generation of clinician-scientists, and challenges to attracting adult physician providers, especially pulmonologists and cardiologists to care for young adults with neuromuscular disease.


Topic I: Sharing of clinical trial data through public/private partnerships

Using ClinicalTrials.gov and Other Sources of Information about Clinical Trials
Deborah Zarin, Lister Hill National Center for Biomedical Communications, National Library of Medicine
Dr. Zarin gave an overview of the number and types of studies in clinicaltrials.gov; most of the registered trials are interventional, while 20% are observational.  Dr. Zarin also gave an overview of policies related to registration of trials and reporting of summary results, and laws and policies aimed at increasing compliance with registration and results reporting.  About 50% of trials do not have associated publications, so in many cases the clinicaltrials.gov results database is the only record of the trial’s summary results.  Many trials still do not report results either through publication or through clinicaltrials.gov. Researchers have used clinicaltrials.gov data in an aggregate way to analyze the clinical research enterprise, including the number and type of trials in a particular disease area, or specific parameters, including adverse event reports and primary outcome measures.  IRBs, trialists, funders, patient advocacy groups, and industry all have roles to play both in using and maintaining clinicaltrials.gov. Patient advocacy groups in particular can play an important role in holding trial sponsors accountable for reporting results to the clinialtrials.gov results database. Groups can also use clinicaltrials.gov to help match patients with specific trials.  Dr. Zarin also talked about recent developments in reporting of individual patient-level data.

The Duchenne Regulatory Science Consortium – A public-private partnership to facilitate sharing of clinical data for the development of regulatory tools to accelerate drug development
Jane Larkindale, Duchenne Regulatory Sciences Consortium (D-RSC), Critical Path Institute
Objectives of the D-RSC include creating a data sharing platform for Duchenne clinical data and developing therapeutic area standards for DMD with the ultimate goals of accelerating therapy development, improving trial and protocol design, and decreasing the number of patients needed for trials.  D-RSC is part of the Critical Path Institute, a non-profit focused on regulatory science, data sharing, and standards development.  D-RSC’s goal is to collect, curate, aggregate and share data using legacy data sets. One dataset has been loaded into the system so far (two more datasets are in-house), and they are seeking data from other sources. There are specific rules in terms of data sharing, which are dependent on the sponsor of the data and their stipulations.  The ultimate goal is to develop tools to facilitate drug development for the entire Duchenne drug development community. Along these lines, D-RSC is currently developing a disease progression model and hopefully expanding that to a disease/biomarker model.


Topic II: Patient access to care, services and medical equipment

Facilitating Mobility and Workforce Integration
Annie Kennedy, Parent Project Muscular Dystrophy
Ms. Kennedy introduced this topic by stating that these issues are ones where the entire muscular dystrophy (MD) community needs to work together; they are not necessarily issues specific to one disease over another.  She mentioned the beneficial addition of new agencies—namely the Administration for Community Living and SSA – to the MDCC.  She highlighted several access issues identified by the MD community, including those related to confirming diagnosis, receiving appropriate treatment, maintaining benefits when employed, coverage for durable medical equipment, time to obtain SSA decision on disability status, and waiting periods for Medicare.  Maintaining benefit eligibility when employed is impacted by a number of factors including age of onset, diagnosis, rate of disease progression and severity, state of residence, and other factors.  Many resources such as personal care attendants, transportation and others come with federal benefits that are tied to income level.  Students likely fall under this income level, but once a patient enters the workforce, this may change their eligibility, and limit their ability to work.  Other issues related to maintaining benefit eligibility include the social security marriage penalty, retirement or death of a parent, lack of portability of Medicaid services across states, variability of definition of developmental disability, and Medicaid ‘buy in’ policies.  Out-of-pocket expenses are significant for individuals with MD and include durable medical equipment and supports, home modifications, and community access.  Reimbursement structures often are very limiting to the community as well.  She also raised the issue of access to therapeutics as a potential future issue for the MD community and one that should be considered given the robust therapeutic pipeline.

Access to Genetic Testing and Interdisciplinary Care
Kristin Stephenson, Muscular Dystrophy Association
Ms. Stephenson highlighted the importance of access to genetic testing since it relates to clinical trial eligibility, better prognosis, and understanding genotype-phenotype correlations.  Genetic testing may result in improved clinical care, decreased disease burden and expanded therapy options.  It can help avoid unnecessary testing, and assists in identification of other family members at risk or who may be carriers.  Challenges related to access of testing and reimbursement include lack of understanding of its importance among patients/providers/payors; inconsistent benefits and reimbursement rates across payors; prior authorization requirements; complicated navigation of coverage, and out of pocket costs.  Access to availability of genetic counselors continues to be a big issue for the community.  Ms. Stephenson also discussed the importance of access to multidisciplinary care, noting that such care can save time, increase access to experts, facilitate consistent care, and advance further understanding of the disorders.  Challenges to obtaining access to this type of care include inconsistent coverage, benefits, and reimbursement; out of state coverage limitations; and the burden of traveling to clinics.  MDA supports a network of multi-disciplinary care centers across the country.

Applying for Disability Benefits: The SSA Perspective
Michael Goldstein and Alayna Ness, Office of Disability Policy, Social Security Administration (SSA)
Representatives from the SSA gave an overview of the two different disability programs at SSA – Social Security disability insurance (SSDI) and Supplemental Security Income (SSI) – and the processes involved in applying for these programs, including how a disability is determined and evaluated. Disability is not determined on diagnosis alone, but rather different impairments/limitations are considered.  Slightly different criteria are used for childhood claims.

They also talked about the SSA Compassionate Allowances (CAL) program which allows certain conditions to receive expedited processing for SSI or SSDI programs.  There are currently 200 such conditions that qualify for CAL, and conditions were last added to the list in December 2012.  Four congenital MDs are included on the CAL list.  They also discussed work incentive programs for SSDI and SSI beneficiaries, including impairment-related work expenses, trial work periods, the Ticket to Work program and the Work Incentives Planning and Assistance Program (WIPA).

CMS Resources and Services
Terri Postma, Centers for Medicare & Medicaid Services
Ms. Postma gave an overview of CMS programs including Medicare and Medicaid, as well as new changes and shifting priorities based on provisions of the Affordable Care Act.  She highlighted criteria that need to be met, and the process for determining national coverage within Medicare.  She talked about a new shift in CMS to move toward a more patient/person-centered focus, while providing value-based, high quality care.  There are important opportunities for patients and other stakeholder to provide input on several aspects of CMS’s program.  These include quality measurements and patient-reported outcomes through the National Quality Forum (NQF) as well as through the CMS Innovation Center, which is aimed at engaging stakeholders to test new payment and service delivery models and evaluate results and advance best practices.

In discussing these presentations, the MDCC members talked about next steps for the Committee.  Possible ideas include developing a demonstration project to identify the needs of the MD community and developing a subcommittee of the MDCC to dive deeper into some of these issues and identify ways to better communicate some of the info from these agencies to the MD communities.

Topic III: Data on the NIH supported muscular dystrophy research workforce

Glen Nuckolls, NINDS
Dr. Nuckolls presented an analysis of the muscular dystrophy research workforce from NIH and from the member agencies and organizations of the MDCC.  Much of these data were obtained from the recently collected spreadsheet tracking MDCC member organization activities relevant to the Action Plan for the Muscular Dystrophies.  A first set of data was collected to establish a baseline for future analyses of trends in the workforce over time.  Trainees are funded from a variety of sources using different mechanisms.  Based on available data, a substantial proportion of trainees remain in academic research or medicine and contribute to neuromuscular research. Following this initial data collection, there are many questions that the MDCC could ask regarding training as data is collected over time to monitor the strength of the MD workforce. 

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This Page Last Reviewed on November 03, 2017