HSPB8 inclusion body myopathy with rimmed vacuoles, caused by mutations in the HSPB8 gene, is an ultra-rare, adult-onset myopathy first described in 2015 by Ghaoui and colleagues. Affected patients exhibit both distal and proximal limb girdle myopathy. Muscle biopsy typically shows fatty replacement, aggregates, rimmed vacuoles, and endomysial fibrosis. Fibroblasts from patients with HSPB8 mutations reveal reduced HSPB8 expression, increased TDP-43, and signs of autophagy pathology.
Currently, no treatment is available for this debilitating disease, and management focuses on maintaining the patient’s quality of life. Although only a few dozen patients have been identified so far, we believe this number significantly underrepresents the true burden of the disease.
We are proud to present Cure HSPB8, a new research-focused, patient-driven advocacy group dedicated solely to HSPB8 Myopathy. Our vision is a future where HSPB8 myopathy is conquered, treatments are accessible, and the community stands united. Our mission is to facilitate translational research, uncover the true number of individuals and families affected by HSPB8 Myopathy, and provide comprehensive, evidence-based, and user-friendly information about the condition to patients, clinicians, and researchers through our website, curehspb8.org.
In pursuit of these goals, we have initiated a Global Patient Registry in partnership with Sanford CoRDS, offering invaluable insights into the disease’s natural history. To identify more HSPB8 Myopathy patients, we are raising awareness among physicians and academics. We invite you to visit our poster and engage with us throughout the conference to accelerate research efforts.
We invite conference attendees to visit our poster:
•Clinicians: Learn more about the symptoms of HSPB8 Myopathy and when to refer your patients for genetic testing.
•Academics: Discover the research resources currently available and how we can support your work on HSPB8 Myopathy.
• Patients and advocacy groups: Exchange experiences on how to best support our communities.
•Those in charge of whole genome sequencing data: Discuss how together we can uncover the true number of HSPB8 patients.
•Other conference attendees to learn about HSPB8 and foster collaborations
Together, we can end HSPB8 Myopathy.