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 May 2024
Clinical
Disease Class
Rare bone diseases
Rare gastroenterological diseases
Rare genetic diseases
Rare hematological diseases
Rare hepatic diseases
Rare immunological diseases
Rare neoplastic diseases
Rare neurological diseases
rare bone marrow failure disease
Body Systems
Digestive
Endocrine
Hematopoietic / Lymphatic / Immune
Integumentary / Exocrine
Metabolic
Muscular / Skeletal
Nervous / Sensory
Reproductive
Respiratory
Organs
Bone marrow
Bones
Pancreas
Genes
DNAJC21
EFL1
SBDS
SRP54
Type of Inheritance
Autosomal recessive
Disease Mechanism(s)
Enzyme deficiency
Immune deficiencies
Ribosome assembly defect
Age of Onset
Infancy (age 0-1)
Prebirth
Incidence
Less than 10
Prevalence
101-1000
Populations and/or ancestry with higher prevalence
seems pretty even, but there seems to be a founder effect 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
Drugs approved for the symptoms
Drugs used off-label
· Drugs for ADHD
Organizational & Research
Cell Lines
CD34 cells
Fibroblasts
iPSCs
LCLs
Cell Lines, location
Coriell Institute
NIH
Cell Lines, share
Yes
Disease Model
Drosophila/fly
Mouse
Yeast
Zebrafish
Disease Model, location
Jackson Laboratories (JAX)
University of Cambridge
Disease Model, share
Yes
Clinical Trial Role
Recruitment and outreach, patients
Biobank
Coriell Institute
Center of Excellence
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
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
Yes, we have an ICD-10 code specific to our exact disease
Diagnostic Guidelines
Yes
Clinical/Treatment Guidelines
In the process of creating clinical/treatment guidelines
Organizational Roles
Executive Director
Research/Scientific Director
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