Shwachman-Diamond Syndrome Alliance
Cycle 2
Shwachman-Diamond Syndrome (SDS) is an inherited rare disease that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. As a bone marrow failure disorder, it puts patients at high risk of life-threatening complications such as serious infections (sepsis), aplastic anemia, myelodysplastic syndrome (MDS), and acute myeloid leukemia (AML).
Last updated 04/30/2025
Clinical
Disease Class
Bone diseases
Bone marrow failure disease
Gastroenterological diseases
Genetic diseases
Hematological diseases
Hepatic diseases
Immunological diseases
Neoplastic diseases
Neurological diseases
Body Systems
Digestive
Endocrine
Hematopoietic / Lymphatic / Immune
Integumentary / Exocrine
Metabolic
Muscular / Skeletal
Nervous / Sensory
Reproductive
Respiratory
Organs
Bone marrow
Bones
Pancreas
Known Genetic Link
Yes, one or more genes directly cause the condition
causative_genes
DNAJC21
EIF6
SBDS
SRP54
contributory_genes
None specified / unknown
Type of Inheritance
Autosomal dominant
Autosomal recessive
De novo
Newborn Screening
Yes, in some states
Disease Mechanism(s)
Abnormal cell proliferation
Immune deficiencies
Inherited metabolic disorder
Other
Pathogenic mutation
Ribosome assembly defect
Age of Onset
Prebirth
Average Age at Diagnosis
Early childhood (age 1+-5)
Life Expectancy
Adulthood (age 18-64)
Affected Sex(es)
Female
Male
National Prevalence
101-1000
Global Prevalence
1001-10000
National Incidence
Less than 10
Global Incidence
Less than 10
Populations and/or ancestry with higher prevalence
Pretty even distribution, plus an extra pocket in French Canada
Symptoms / Phenotypes
anemia
cancer / carcinoma / tumor / malignancy, unspecified
cancer, leukemia
feeding difficulties
growth delay / deficiency
infection, unspecified location
intellectual disability
neutropenia
rib or spine abnormalities
thrombocytopenia
Biomarkers
Diagnostic
· Just genetic testing.
Monitoring
· To try to predict if leukemia is imminent, bone marrow is tested by NGS for acquired mutations, such as p53.
Prognostic
· To try to predict if leukemia is imminent, bone marrow is tested by NGS for acquired mutations, such as p53.
Therapeutic
· blood counts (especially neutrophil counts)
Existing Therapies
Expanded access (Compassionate Use)
FDA-Approved for Symptom Relief
· PERT for Pancreatic Exocrine insufficiency, GCSF to increase neutrophil count, ADHD drugs
Organizational & Research
Cell Lines
iPSCs
LCLs
Cell Lines, Institution
Coriell Institute
Cell Lines, Involvement
Designed
Funded
Own
Cell Lines, share
No
Disease Model
Mouse
Disease Model, Involvement
Consulted
Designed
Funded
Disease Model, share
Some of our disease models are freely available
Clinical Trial Role
Recruitment and outreach, patients
Recruitment and outreach, trial sites/physicians
Study material design, review (not protocol)
Biobank, Institution
Coriell Institute
Biobank, Involvement
Consulted
Center of Excellence, Institution
None
Registry
Yes, we have a registry that we created
Data Collected, Registry
Genetic data
Longitudinal natural history data
Medication usage
Patient contact info
Patient-reported data
Data Entered by, Registry
Patients
Platform, Registry
Matrix
Natural History Study
Yes, we have a natural history study that we created
Data Collected, Natural History Study
Genetic data
Medication usage
Patient-reported outcomes
Prospective data
Retrospective data
Platform, Natural History Study
Matrix
FDA Patient Listening Session
Yes
FDA Patient-Focused Drug Development (PFDD) Program
We have taken formal steps to schedule a meeting
ICD Codes
We are working on obtaining an ICD-11 code
Yes, we have an ICD-10 code specific to our exact disease
Diagnostic Guidelines
Yes, we have guidance available on our website
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Has CRN but no policies
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
None
International Partners
Europe
North America
Oceania