Advocacy Partner: FundAME

Since our founding in 2005, the Spinal Muscular Atrophy Foundation (FundAME) has been working to improve the current and future quality of life for people with SMA and their families through scientific research.

In 2025, we advanced SMA research with new lines of work, such as the Contracture Strategy, the Electrostimulation Study, RegístrAME, and support for five international projects.e advocated for optimal access to treatments and care by promoting the development of seven clinical trials and succeeded in getting nine autonomous communities to include SMA in their newborn screening programs. In addition, we worked to build a supported, informed, and engaged community through mentoring sessions, webinars, and Family Days.

For support, guidance, and resources please visit: FundAME
By Phone: 0034 640174027
By Email: [email protected]

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Summary Workshop Contractures in SMA: From Scientific Insights to Therapeutic Targets

Contractures are a common and disabling musculoskeletal complication in SMA, reducing functional capacity, causing pain, and significantly impacting the quality of life of individuals living with the condition.

The workshop brought together leading international experts in clinical and basic research, alongside patient representatives, to advance knowledge and therapeutic strategies addressing contractures in spinal muscular atrophy (SMA).

The challenge of Contractures in SMA

Contractures significantly impacting the quality of life of individuals living with SMA. Disease-modifying therapies (DMTs) have transformed the course of SMA; however, contracture management remains a largely unmet clinical need and continues to rely on pre-DMT care standards.

In response to this gap, FundAME has promoted a comprehensive 360° strategy to transform the approach to contractures in SMA by integrating Basic research, clinical expertise, patient community insights, and biotechnological research.

Emergency Information Card

Due to its low prevalence, SMA is often unfamiliar to many emergency healthcare professionals (HP), especially in non-specialized settings. In the time-pressured environment of acute medical care, it is unrealistic to expect that non-SMA specialist HP can swiftly access and apply the specialized knowledge required to manage complex rare diseases like SMA.

This limited exposure increases the risk of suboptimal clinical decisions.For this reason, raising awareness of SMA-specific emergency considerations is crucial for ensuring patient safety and preventing avoidable complications.

Beyond SMN: What’s Next? Broadening the Focus on Spinal Muscular Atrophy

SMA is a complex disease characterized by multiple functional challenges that profoundly affect the QOL.

Contractures, pain, and fatigue must be recognized as clinical and research priorities.

Broadening the therapeutic and research focus beyond the SMN gene is not only a matter of optimizing efficacy but also a necessary step toward

Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers

There is a need to expand the current scope of assessment tools usually applied to patients with SpinalMuscular Atrophy (SMA). This study aimed to assess the psychometric properties (reliability and discriminant validity)of a set of new patient-reported outcome measures (PROMs) called PROfuture, after analysing the performance ofindividual items of the questionnaires.

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