Voice of the Patient Report for Shwachman-Diamond Syndrome
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.
Patient Focused Drug Development, Exocrine Pancreatic Insufficiency/therapy, Metabolism, Inborn Errors/blood, Exocrine Pancreatic Insufficiency/history, Myelodysplastic Syndromes/prevention & control, Patient Focused, Myelodysplastic Syndromes/prevention & control, Bone Marrow Failure Disorders/diagnosis, Myelodysplastic Syndromes/mortality, Shwachman-Diamond Syndrome/complications, Bone Marrow, Neutropenia/blood, Granulocyte Colony-Stimulating Factor, Exocrine Pancreatic Insufficiency/metabolism, Stem Cell Transplantation/adverse effects, Congenital Bone Marrow Failure Syndromes, Neutropenia/therapy, Bone Marrow Failure Disorders/complications, EL-PFDD, SDS, Bone Marrow Transplantation, Bone Marrow/abnormalities, Leukemia, Hematopoietic Stem Cell Transplantation, Voice of the Patient report, Bone Marrow Examination, Metabolism, Inborn Errors/genetics, Patient Preference, Shwachman-Diamond Syndrome, Bone Marrow Failure Disorders/classification, Leukemia, Myeloid, Acute, Bone Marrow Failure Disorders/therapy, Immune System Diseases/congenital, Shwachman-Diamond Syndrome/drug therapy, Cord Blood Stem Cell Transplantation, Clonal Hematopoiesis, FDA, Neutropenia/congenital, Myelodysplastic Syndromes/blood, Neutropenia, Bone Marrow Failure Disorders/immunology, PFDD, SDS Alliance, Rare Diseases, Rare Diseases/genetics, Drug Development, Voice of the Patient, Bone Marrow/immunology, Stem Cell Transplantation/mortality, Enzyme Replacement Therapy, Shwachman-Diamond Syndrome/therapy, Patient Reported Outcome Measures, Shwachman-Diamond Syndrome Alliance, Febrile Neutropenia, Bone Marrow Failure Disorders/blood, CureSDS, Pancreatic Diseases, Bone Marrow Failure Disorders, Hematopoietic Stem Cells, Immune System/physiology, Clonal Hematopoiesis/physiology, Myelodysplastic-Myeloproliferative Diseases/mortality, Immune system, Shwachman-Diamond Syndrome/diagnosis, Exocrine Pancreatic Insufficiency, Bone Marrow Neoplasms, Metabolism, Inborn Errors, Stem Cell Transplantation
Patient Focused Drug Development, Exocrine Pancreatic Insufficiency/therapy, Metabolism, Inborn Errors/blood, Exocrine Pancreatic Insufficiency/history, Myelodysplastic Syndromes/prevention & control, Patient Focused, Myelodysplastic Syndromes/prevention & control, Bone Marrow Failure Disorders/diagnosis, Myelodysplastic Syndromes/mortality, Shwachman-Diamond Syndrome/complications, Bone Marrow, Neutropenia/blood, Granulocyte Colony-Stimulating Factor, Exocrine Pancreatic Insufficiency/metabolism, Stem Cell Transplantation/adverse effects, Congenital Bone Marrow Failure Syndromes, Neutropenia/therapy, Bone Marrow Failure Disorders/complications, EL-PFDD, SDS, Bone Marrow Transplantation, Bone Marrow/abnormalities, Leukemia, Hematopoietic Stem Cell Transplantation, Voice of the Patient report, Bone Marrow Examination, Metabolism, Inborn Errors/genetics, Patient Preference, Shwachman-Diamond Syndrome, Bone Marrow Failure Disorders/classification, Leukemia, Myeloid, Acute, Bone Marrow Failure Disorders/therapy, Immune System Diseases/congenital, Shwachman-Diamond Syndrome/drug therapy, Cord Blood Stem Cell Transplantation, Clonal Hematopoiesis, FDA, Neutropenia/congenital, Myelodysplastic Syndromes/blood, Neutropenia, Bone Marrow Failure Disorders/immunology, PFDD, SDS Alliance, Rare Diseases, Rare Diseases/genetics, Drug Development, Voice of the Patient, Bone Marrow/immunology, Stem Cell Transplantation/mortality, Enzyme Replacement Therapy, Shwachman-Diamond Syndrome/therapy, Patient Reported Outcome Measures, Shwachman-Diamond Syndrome Alliance, Febrile Neutropenia, Bone Marrow Failure Disorders/blood, CureSDS, Pancreatic Diseases, Bone Marrow Failure Disorders, Hematopoietic Stem Cells, Immune System/physiology, Clonal Hematopoiesis/physiology, Myelodysplastic-Myeloproliferative Diseases/mortality, Immune system, Shwachman-Diamond Syndrome/diagnosis, Exocrine Pancreatic Insufficiency, Bone Marrow Neoplasms, Metabolism, Inborn Errors, Stem Cell Transplantation
selected citations These citations are derived from selected sources.This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).0 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Average influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Average impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Average
Citations provided by BIP!Popularity provided by BIP!