Allison Moore Project Investigator Eugene Washington PCORI Engagement Award - EAIN#3064

Summary of Lessons Learned, Challenges, Wins and Best Practices The inaugural Patient-Centered Charcot-Marie-Tooth (CMT) Summit was a full day conference held on October 6th, 2016 by the Hereditary Neuropathy Foundation (HNF) at the 3 West Club in New York City from 7:30am - 5:30pm, with a reception afterwards. The purpose of this report is to provide Lessons Learned, Challenges, Wins and Best Practices that were the result of the Patient-Centered CMT Summit. The robust agenda was organized with dynamic speakers to include panel discussions on various topics to engage all stakeholders: patients, caregivers, HCPs, scientists, government and industry. Lessons Learned - Identified gaps in research 1) As a result of the Summit, we all agree that there is a disease awareness state problem which has led to patients and families not getting a proper diagnosis, quality care to manage the symptoms associated with Charcot-Marie-Tooth/Inherited Neuropathies (CMT/IN), and a lack of stakeholder collaboration to increase translational research and therapy development. A goal to fulfill this awareness gap is to increase both awareness among the healthcare/medical community and public at large. Video: Awareness Video (shown at Summit) Speaker Presentation Video on Awareness: https://drive.google.com/file/d/0By5A6Kn9gmPsdjBrNW16aWk1ZGs/view?usp=sharing ( not for public use until edited, will be available to PCORI when complete) 2) Lack of genomics and delayed diagnosis has caused heartache among patients and families searching for answers to their medical problems. By obtaining a definitive diagnosis, patients can seek out the proper care to help manage their disease, family planning and participating in specific mutation research. CMT/IN has over 85 mutations with symptoms varying even within families. This lack of identified genomics is problematic to the research community having a better understanding of the mechanism of disease, as well as identifying targets to treat and for patient recruitment in clinical trials. Methodology 1: The survey results from a poll HNF conducted leading up to the Summit in HNF’s CMT Inspire Community shows that 35.4% of respondents don’t know what type of CMT/IN they have. Therefore, one panel discussion focused on genotype - phenotype. Results from that survey:

Methodology 2: There was a lot of discussion during the Genotype-Phenotype panel discussion. The speaker asked for a show of hands from the audience and a high percentage had not been genetically testing. Later that afternoon we presented on a big screen from an on-site poll conducted in the morning a similar question, and the results were slightly higher, but consistent with lack of patient genetic diagnosis. There were various reasons related to expense, HCP didn’t suggest to be tested, didn’t want to know or thought the information would not be useful since there are currently no treatments. Some were also concerned with insurance and pre-existing conditions.

3) Patient accessibility to affordable, quality mobility devices, most importantly AFOs (leg braces) needed for foot drop, one of the most debilitating symptoms of CMT/IN. This discussion mostly came up during the Public Policy session. With limited resources and lack of awareness among HCPs, patients are not always referred for quality orthotic fittings and AFOs to help improve the gait and for overall general health. Often when prescribed their insurance carriers will not reimburse the expense. Results: HNF has formed a coalition (primarily run by patients with guidance by Every Life Foundation) to address disparities in CMT patient care and access to improved clinical care and medical devices. 4) Standard of Care Guidelines came up many times throughout the day. Without guidelines the medical community is lacking in identifying CMT/IN, prescribing interventions that may improve quality of life (surgery, physical therapy, occupational therapy, prescription for AFO's pain meds, etc.) and developing improved PROs and endpoints for clinical studies. Results: HNF will also collaborate with the American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) and will set up a committee of all stakeholders to develop Standard of Care Guidelines for CMT/IN. 5) Patient Reported Outcomes to improve therapy development and clinical trial end-points can be critical in the future for those affected by CMT. Two important issues when industry is developing a protocol and endpoints are tolerance of number and times of each visit as well as determining outcome measures. One concern often for patients are falls. The million dollar question: Can falls be an outcome measure in a clinical trial? The on-site poll conducted in the morning was presented on a big screen in the afternoon session: “Gaps in Available Patient-Reported Outcomes and Barriers to Therapy Development”.

Methodology: On-site poll to illustrate the power of PRO's. Graphs below and for a full report visit: http://www.hnf-cure.org/wp-content/uploads/2016/12/Final-Report-On-Site-Summit-Survey.pdf

6) The most important benefit of the Summit noted by participants in the survey was patients working closely with HCPs, scientists and other stakeholders.

Lessons Learned - Industry engagement Industry was engaged by level of patient interest in the research process, advocacy, and willingness to participate in clinical trials. This was the first ever CMT/IN Summit to include all stakeholders. Industry participants were quick to note that the level of engagement by the patient group impressed them and provided critical information in assisting in their clinical trial design. Methodology/Results: See program booklet with agenda - http://www.hnf-cure.org/wp-content/uploads/2016/12/HNF_Summit-Program-Oct-6-2017.pdf See full results of the on-site poll - http://www.hnf-cure.org/wp-content/uploads/2016/12/Final-Report-On-Site-Summit-Survey.pdf

See full results with testimonials from the post Summit survey - http://www.hnf-cure.org/wp-content/uploads/2016/12/FINAL-Attendee-Summit-Evaluation-Data.pdf

Survey Testimonials: The most valuable part of the Summit for me was hearing “patients' perspective on various issues that we physicians don't generally think about.” - Clinician from HNF Centers of Excellence

Lesson Learned - Importance of in-person contact between stakeholders

Narrative comments from the Summit survey reiterated how many attendees came away with a sense of connectedness and community they had not had before. Several noted that they had never met another patient with CMT before and how grateful they were to not only meet with peers, but also to see that strong efforts were being made by advocates and professionals alike to improve care for CMT patients. They also greatly appreciated the opportunity to interact with and have access to clinicians and researchers who were experts in the field.

Methodology/Results: Patients primarily planned the Summit as part of the TPC and took charge the day of the Summit. Patient participation both as part of the agenda and general attendees was incredible. Post Summit survey gathers data plus beautifully written testimonials within the survey and via emails afterwards. Email from TPC member: “The CMT Summit provided a rare opportunity for patients to decide what topics were most important to our community and how to present all of the information in a way that would accelerate and connect us towards progress. As a member of the TPC, It was truly rewarding to have such a meaningful platform to use my design and marketing skills for. Whether it was creating our Summit logo, presentation slides, or social media graphics, we all did in our best with patients as our top priority. As a speaker on our Fitness and Nutrition panel, I was able to share my success story and educate both patients and medical providers about the innovative technology of the AlterG treadmill. This incredible experience has already opened the door to so many connections within the community and has created new conversations between patients and health care providers. To be part of such a vital event and movement towards patient-centered therapies has been truly rewarding and empowering.” - Estela Lugo, CMT Patient

Challenges Venue Limitations: Although we pulled off an incredible Summit, the 3 West Club venue could have been more spacious. The challenge was accommodating everyone comfortably in the Ballroom meeting room and the luncheon banquet room. However, HNF staff and volunteers made the best of it by sitting in chairs and standing along the back of the wall and eating lunch in the common hall space which easily accommodated the wheelchairs and scooters. For future events we will look for a location that can accommodate more people and better accessibility for the disabled attendees.

Limited resources - Although we were satisfied with the development of the website, program, and sponsorship materials, we were challenged due to limited manpower and financial resources. We relied on additional external funding through our sponsors, as well as dedicated consultants that provided in-kind services. In fact, one of our industry collaborators sat on a panel and stated to our advocacy director, “I can’t believe you didn’t use an event planner! This is one of the most professional patient conferences I’ve attended”. Travel Scholarships – HNF was fortunate through a bequest to have funding set aside to support patient/caregiver travel scholarships, but only had enough budget to award six of them. We received 30 travel scholarship submissions with questions that pertain to CMT/IN that asked:

● Please share about yourself and your experience in the CMT/IN disease community?

● How have you supported HNF in the past and/or how do you plan to support them in the future?

● What do you see as the primary value that you will derive from this conference that is of importance to you personally?

● Briefly describe how you, as a patient/caregiver, currently communicate your CMT/IN-related symptoms/needs to your medical team and how you perceive they respond and briefly describe why you are interested in participating in this Patient-Centered Summit?

● Include how you plan to use the information and skills obtained in your day to day life; how participating in these sessions will benefit your family; and how you plan to disseminate what you learn in the sessions back to your patient community, medical providers and elsewhere.

Wins 1) There was patient empowerment by organizing and conducting a national Summit and giving patients the opportunity to present and discuss gaps in patient care and research. For some, these patients/caregivers it was the first time meeting others with CMT. “ I connected with other patients like me that had similar problems. This is where some of my questions were answered.” - Maureen Stefanides, CMT Patient “Meeting and talking with others with cmt. Realizing the need not to stay stagnant” - Ann Gentry, CMT Patient “..the strong leadership that exists around CMT. This was perhaps the best part for me because up until this point I've felt that I was on an island and I resigned to the idea that the future would be negative. The strength in community and the solid leadership proves to me that I was wrong!” -Francis Gillott, CMT Patient 2) The power of patients/caregivers increased advocacy and support for HNF and initiatives to address the unmet medical needs among the community. Everyone went away with a clearer understanding of what treatments are on the horizon, how patients can lead more active lives and become a proactive participant in managing their disease. “We had a tremendous increase in the number of patients wanting to participate in the clinical trial as a result of the Summit” - René Goedkoop, Pharnext Pharma “Meeting others with CMT. We had never met anyone else with this disease so it was wonderful to share with others.” - Carlee Lutz, caregiver 3) Identification of new stakeholders: new collaborations, sponsors and donors

● New HNF sponsorships were created to support the Summit and as a result of the Summit: Acceleron Pharma, MNG Labs, and VirtueBalance

● Donations to HNF were generated day of the Summit and post Summit by generous patients and families with CMT/IN that attended the Summit

● Collaborations were formed to conduct research with various stakeholders: AlterG, Foot Ankle Society, Cedars-Sinai, and ProHealth PT OT

4) The PCORI Engagement Award prestige opened up additional opportunities to HNF within the CMT and the Rare Disease Community. Allison Moore was asked to present at the CBI Conference in Philadelphia on November 7, 2016. In addition, HNFs membership grew from the extensive marketing effort pre-Summit and through HNF’s partnerships and collaborators. 5) The power of social media in promoting our event and raising awareness was clear through HNF’s Google analytics, Twitter stats and Inspire CMT Online Community. (i.e. Google results for “The Squeaky Wheel Gets the Grease: The Art of Being a Successful Patient is to Know How to Get on Your Doctor’s Nerves and Feel Good About It”.

6) Our follow-up survey and results from the Summit helped us to identify additional topics for later discussions and new initiatives.

● CMT 101 - the basic concepts of Schwann cell, neuron biology, as well as CMT. ● Physical therapy & occupational therapy approaches to dealing with CMT

including orthotics, AFOs and conditioning exercises. ● Clinical trial readiness. Conduct interviews, surveys and multi-stakeholder

meetings to demonstrate the value of patients involvement throughout the research process to clinical trials. Are clinical endpoints meaningful and practical?

● Utilize clinical trial database/patient registries and other HNF program databases for better study designs to suit the patient's needs.

● Conduct intimate discussions and focus groups with patients and professionals to determine Standard of Care Guidelines.

● Education on how to better deal with the financial aspect of living with CMT. (Medicare, Medicaid, SSI, etc.)

● Employment opportunities that could be a good fit for someone with CMT and limitations.

● Embracing differences within a school setting for kids living with CMT and related disabilities.

● Development of biomarkers and functional outcome measures aligned with natural history studies.

● Continue to learn what is most important to patients/caregivers. ● Understanding benefit-risk for patients participating in research. ● Collection of quantitative and qualitative data in understanding economic

burden of disease. Best Practices 1) The Summit was conceived and brought to fruition with a strong collaborative team - patients, caregivers, HCPs, scientists, government and industry. There was much thought and consideration given to the implementation and relevance of clinical comparative effectiveness research centered with results that matter most to patients, HCPs and other stakeholders. There was careful reasoning behind every session and topic discussion throughout the entire Summit day. 2) HNF and the TPC stayed accountable and on track, and reached milestones and deliverables that were proposed in the original PCORI Eugene Washington Engagement Conference proposal and award EAIN# 3064.