Fatigue and Fatigability in SMA Summit

On October 24-26, 2025, faculty members Drs. Jackie Montes, Ralph Rodriguez-Torres, and Cara Kanner hosted a summit on Fatigue and Fatigability in Spinal Muscular Atrophy (SMA) titled, “Revisiting Nomenclature, Mechanisms and Assessment of Fatigue and Fatigability in SMA: Towards Enhancing Patient Outcomes”.

Despite the availability of disease modifying therapies, fatigue and fatigability impact the everyday lives of people living with SMA and remain a significant unmet need. To address this, the SMA community must come together to align research priorities to guide clinical management and improve patient outcomes. While there have been efforts to understand this problem, a unified and coordinated approach is still lacking. 

During this multi-day, in-person meeting, a group of 39 SMA experts including basic and clinician scientists, industry and foundation representatives, and persons living with SMA came together to address this important topic. There was passionate discussion, debate, and discourse throughout the weekend. 

The aims of the workshop were to:

1. Establish a fatigue and fatigability taxonomy, with uniform nomenclature to be adopted by the SMA community in clinical practice and research.
2. Identify relevant key pathophysiological determinants of fatigue and fatigability and identify potential pharmacological and rehabilitative treatment strategies.
3. Recommend a methodology for patient-reported, physiological, and performance-based assessments of fatigue and fatigability.
4. Provide the SMA community with a framework for identification, assessment, and treatment of fatigue and fatigability and inform research priorities and clinical trial design. 

Stay tuned for the dissemination of the results of the meeting, including recommendations for a path forward for the SMA community.