Voice of the Patient Report for Shwachman-Diamond Syndrome

This Voice of the Patient Report summarizes the experiences and perspectives of patients and caregivers living with Shwachman-Diamond Syndrome (SDS), shared during the Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting held online and in Cincinnati, OH, on June 4th, 2025. The meeting was convened by the Shwachman-Diamond Syndrome Alliance (SDS Alliance) and attended by patients, caregivers, clinicians, researchers, and representatives from the US Food and Drug Administration (FDA).

SDS is a rare, life-threatening genetic disorder that causes bone marrow failure, immune deficiency, exocrine pancreatic insufficiency, and a significantly elevated risk of leukemia, among other serious complications. There are currently no disease-modifying therapies for SDS.

The report documents patient and caregiver perspectives on the burden of living with SDS, current treatments and their limitations, and priorities for future therapy development. Key themes include:

• frequent and severe infections due to neutropenia and immune deficiency, and their impact on daily life;
• challenges with the skeletal system, mobility, and pain; 
• digestive issues (exocrine pancreatic insufficiency), liver, and failure to thrive; 
• challenges with mental health and cognitive impacts;
• the fear of leukemia and its profound impact on daily life;
• the burdens and benefits of hematopoietic stem cell transplant (HSCT);
• need for disease-modifying and leukemia-preventing therapies, and 
• The importance of treatment tolerability and formulation, including for pediatric patients.

This report was prepared for submission to the FDA and is intended to inform drug development, regulatory decision-making, and research prioritization for SDS.