Stronger Together: Nonprofit Groups Propelling Patient-Driven Research of Rare Neuromuscular Diseases

Stakeholders within communities of rare diseases often face challenges of isolation, scarcity of information, uncertainty about best care practices, and siloed research. Ultra-rare congenital muscle diseases including congenital muscular dystrophy (CMD), nemaline myopathy (NM), and titin myopathy (TTN)—overlapping in clinical presentation, care management needs, and researchers—each experience the above.

The proposed conference, “Stronger Together: Nonprofit Groups Propelling Patient-Driven Research of Rare Neuromuscular Diseases,” is a collaborative event that will convene stakeholders from three separate yet aligned patient advocacy groups, each with similar goals and communities: congenital muscular dystrophy-focused Cure CMD, nemaline myopathy-focused A Foundation Building Strength (AFBS), and titin myopathy-focused Team Titin. Each group works to advance research and improve the quality of life for a rare congenital muscle disease. Collaboration is not only the most efficient use of time and resources, but it will also more quickly lead toward common goals of higher quality of life through improved care, and of treatments and a cure for these ultra-rare conditions.

Through continued relationship-building to ensure full participation from all stakeholders, Cure CMD, AFBS, and Team Titin aim to:

• Increase communication among patients and researchers of rare neuromuscular disease
• Launch innovative, responsive research that reflects community needs and engages the patient community
• Increase available care information to patients, caregivers, and clinicians
• Speed implementation of treatments

Through this, the collaborating triad aims to:

• Build community, thus increasing communication and improving overall health of affected individuals through information sharing
• Through greater numbers, increase public awareness, which will not only reduce isolation but will also bring much-needed attention to the urgency of managing, treating, and curing congenital muscle diseases
• Through strength in numbers, drive research with a greater velocity
• Unify the congenital muscle disease communities whenever possible, continuing a shift toward collaboration
• Create a lay summary of the conference event so that stakeholders in all congenital muscle groups and beyond will benefit from life-improving and often life-saving discussions about care and research
• Aim to be a model for other groups and networks seeking knowledge and improved outcomes for rare conditions

Patient communities are those mentioned above (CMD, NM, TTN); additional stakeholders include families/caregivers, researchers, clinicians, patient advocacy organization staff and volunteers, industry representatives, and policy makers.

Preceding the conference, the collaborating triad will engage patients through email, social media, and Live Facebook Q&A to shape all conference aspects. Patient representatives will attend the scientific portion of the conference to ensure upcoming research is responsive and relevant. Likewise, researchers/clinicians will have multiple opportunities to contribute to all conference aspects, and to interact with each other and with patients.

The triad aims to collaborate with other patient-focused neuromuscular groups: the Muscular Dystrophy Association, MD-UK, MD-Canada, AFM-Téléthon, CureLGMD2i Foundation, and more. Industry groups will also be invited.