Shwachman Diamond Syndrome Registry and Study
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Shwachman-Diamond Syndrome, Shwachman-Diamond Syndrome-Like. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Shwachman Diamond Syndrome Registry and Study (SDS Registry)
Overview
Shwachman-Diamond syndrome (SDS) is a genetic condition characterized by bone marrow failure, medical co-morbidities, and leukemia predisposition. SDS-Like patients share clinical features with SDS but lack mutations in known SDS genes. Since SDS/SDS-Like syndromes are rare diseases, data are sparse regarding the clinical features, natural history, clinical outcomes with current management, and treatment. For this reason, the SDS Registry was formed to collect clinical data from medical records and to bank biological samples with the goal of understanding SDS/SDS-Like diseases to develop better treatments and improve the health of patients with these conditions.
Detailed description
The Shwachman-Diamond Syndrome Registry (SDSR) is dedicated to accelerating research and treatment for SDS to improve survival and quality of life for all patients with the disease. The SDSR is run jointly by Boston Children's Hospital and Cincinnati Children's Hospital Medical Center.
Objective and Aims:
The long term goals of the Registry are to improve diagnosis, inform medical management, and to develop better treatments for SDS and SDS-Like disorders.
To achieve these objectives, the Registry has the following specific aims:
* Characterize the natural history, medical complications, and treatment outcomes for patients with SDS and SDS-Like disorders. * Investigate the molecular and genetic pathogenesis of SDS/SDS-Like conditions and their complications such as marrow failure and clonal evolution. * Identify new genes causing SDS/SDS-Like conditions. * Provide education on the diagnosis, medical management and treatment of SDS for patients, families and the medical/scientific community.
Methods: The SDSR collects information from medical records and biological samples. Samples for the SDSR are collected when they are obtained for clinical care so that no extra visits or procedures are needed. These samples may include blood, bone marrow, skin cells, saliva, or discards from other clinical procedures. Family members may also contribute blood samples. All information obtained by the SDSR is housed on a secure, HIPAA-compliant database. No personal information is shared outside of the study team.
Primary outcome measures
- Characterize the natural history, medical complications, and treatment outcomes for patients with SDS and SDS-Like conditions. [Time frame: 50 years]
- Investigate the molecular and genetic pathogenesis of SDS/SDS-Like condtions and their complications such as marrow failure and clonal evolution. [Time frame: 50 years]
- Identify new genes causing SDS/SDS-Like conditions [Time frame: 50 years]
- Provide education on the diagnosis, medical management, and treatment of SDS/SDS-Like conditions for patients, families, and the medical/scientific community. [Time frame: 50 years]
Eligibility criteria
Inclusion Criteria: Shwachman Diamond syndrome, Shwachman-Diamond Syndrome-Like conditions, or a genetically undefined condition that shares clinical features with Shwachman Diamond Syndrome.
- Biallelic mutations in SBDS, or pathogenic mutations in DNAJC21, EFL1, or SRP54 OR
- Shwachman-Diamond Syndrome defined clinically OR
- Clinically suspected Shwachman-Diamond Syndrome OR
- Phenotypic features suggestive of SDS OR
- Parents, siblings, and other blood relatives of any age, living and deceased, of patients with SDS or SDS-Like conditions are eligible for this study
Exclusion criteria
- Patients with other diagnosed causes of bone marrow failure, exocrine pancreatic insufficiency and cancer predisposition will be excluded.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Study design
- Observational model
- Cohort
Study locations
United States · 4 centers
- Children's Hospital Colorado — Aurora
- Boston Children's Hospital — Boston
- Dana-Farber Cancer Institute — Boston
- Cincinnati Children's Hospital Medical Center — Cincinnati
Identifiers
NCT: NCT06056908 · P00020466