SciFam 2025

The 2025 Scientific and Family Conference (SciFam) took place from 1-5 August in Philadelphia, USA. Host organisations included Cure CMD (focused on Congenital Muscular Dystrophy), A Foundation Building Strength (AFBS, focused on Nemaline Myopathy), and Team Titin (focused on Titin-Related Disorders). The event attracted more than 300 stakeholders from around the world, including affected individuals, their families and caregivers, clinicians, researchers and industry representatives.

This event included a two-day family conference and a 1.5-day scientific symposium. The family conference presented the opportunity for the patient community to learn about the latest medical guidance and research, and for researchers and clinicians to connect with affected individuals and their families, to not only answer their questions, but to help inform their work.

For families attending SciFam the first time, most have never been in the presence of another affected individual making a similar journey or living with the same diagnosis. We know from our experience organising this type of meeting that the connections made among those in the patient community at SciFam are life-long and life-changing. This past meeting nurtured and strengthened new and old connections. The scientific symposium featured presentations and discussions for researchers and clinicians working in CMD, NM, and Titin.

While spotlighting our organisation’s latest funded research, this meeting also included panel discussions around overlapping efforts towards identifying treatments across the subtypes. The main topics of the agenda included “Latest Advances in Therapeutic Research”, “Genetic Therapies”, “Disease Models”, “Mechanisms of Disease”, “Biomarkers” and “Natural History Studies” as well as “Poster Sessions”. We welcomed around 100 researchers and clinicians who focus on congenital muscle diseases, many of whom are the world’s top experts, as well as PhD students, postdocs, trainees, and independent researchers at different stages of their careers.

The great camaraderie and collaborative spirit demonstrated among the participants in the meeting room and at the social hours definitely catalysed new ideas and future collaborative research.

For the organising Patient Advocacy Organisations (PAOs), Cure CMD, AFBS and Team Titin, the conversations held, information exchanged, and listed priorities will lead to funding decisions in our upcoming calls for grants. In addition to these two primary gatherings, we also hosted a smaller meeting for clinicians to make progress on a project launched in 2024: updating and creating CMD Subtype-Specific Care Guidelines (Collagen 6, LAMA2, LMNA, SELENON, and the Dystroglycanopathies). The participants are now leading the formation of KOL groups, seeking consensus methodology, and seeking funding to accomplish that objective.

The scientific symposium also included representatives of other national or individual family foundations in the CMDs’ space (Noelia Foundation and ImpulsaT from Spain, Voor Sara from the Netherlands, CMDTR from Turkey, MDA, LCMD Foundation and COLVI Fund from the USA). This helped strengthen our relationships, opening better paths for coordination of collaborative work on funding research and care projects, organisation of symposia and efforts on expanding the outreach of our international patient-reported registry (CMDIR), all efforts aiming to avoid duplicated work resulting in a more cost effective and wise use of the limited resources that we all share in the rare disease patient advocacy landscape.

In summary, our 2025 SciFam meeting: 

Provided a platform to launch new congenital muscle disease-focused projects in upcoming calls for grants.

Explored ways to implement the use of new and existing platforms such as viral vector platforms and 3D skeletal muscle modelling to accelerate translational research and foster crossover across all subtypes. Though these diseases differ in genetic origin and phenotypic expression, many treatment modalities and interventions may be shared.

Assessed and updated subtype-specific research priorities and care guidelines.

Created, shaped, and refined research projects incorporating patient input where possible. While scientists are experts in creating robust studies, dialogue with affected individuals and clinicians will help ensure that research is responsive to community needs.

Continued to promote communication among all stakeholders. Affected individuals across these disease groups have more in common than not.

Continued to build collaboration among scientists to increase the trajectory and pace of productive research.

Continued to build energy within the congenital muscle disease community and learn from clinical trials in other subtypes, joining these communities in a collective understanding of the challenges and conquered hurdles to drive engagement.

The event welcomed the participation of more than 30 active members of the World Muscle Society (WMS). We gratefully acknowledge WMS’s support in helping us provide travel assistance to expert members presenting research on therapeutics for congenital muscle diseases. Additional photos from 2025 SciFam can be found at crowdpic.com/events/SciFam25. 

As a demonstration of our commitment to developing the field of neuromuscular disorders through clinical research and patient care, the WMS is seeking project proposals for funding and broader support. We want to break down the barriers to access for our community and ensure that scientists around the world can network, learn from one another, share science and publish their work. The project proposals process is available to all WMS members. For more information and to apply for funding, please visit the project proposals page of the WMS website.