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Shwachman Diamond Syndrome Registry and Study

Shwachman Diamond Syndrome Registry and Study (SDS Registry)

Who can join

As published by the study on ClinicalTrials.gov. "Not stated" means the study hasn't said — ask the study team.

Age
No age limits stated
Sex
All sexes
Healthy volunteers
Not stated
Compensation
Not stated

Other requirements are listed under Eligibility below. Only the study team can confirm whether you can join.

What to expect

No one can promise a trial will help you personally — that is what the research is trying to find out.

What participation involves

  • Procedures mentioned: Blood draws

Only what the study's summary and detailed description on ClinicalTrials.gov say. Time periods may describe the whole study or a part of it — ask the study team what applies to you.

Show the study's own words
  • "Family members may also contribute blood samples."
Compensation
Not stated
  • Study-related exams and procedures are typically provided at no cost. This is how many trials work in general — confirm the details for this study with the study team.
  • Participants are monitored closely by the research team throughout the study.
  • Some participants may receive access to an investigational treatment, which is still being studied.
  • Your participation helps researchers learn whether this approach could help future patients.

About this study

In plain language

This study collects medical records and stores samples from the body to learn more about Shwachman-Diamond syndrome (SDS) and similar conditions. SDS is an inherited condition that can keep bone marrow from making enough blood cells and raise the risk of blood cancer. The study includes people with known or suspected SDS or similar conditions, and their blood relatives, to help improve future care and treatments.

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.

Compensation is read from the study's own description and may be missing — always confirm with the study team.

Eligibility

Who can join

  • People with SDS or a similar condition, even if the gene cause is not known.
  • People with changes in both copies of the SBDS gene, or harmful changes in DNAJC21, EFL1, or SRP54.
  • People diagnosed with SDS based on signs and symptoms.
  • People whose doctors suspect SDS or who have signs that suggest SDS.
  • Parents, siblings, and other blood relatives of people with SDS or similar conditions. Relatives of any age, living or deceased, may be included.

Who can't join

  • People with other diagnosed causes of bone marrow failure, a pancreas that does not make enough enzymes to digest food, and a higher risk of cancer.

Simplified for readability. The official criteria below are what the study team uses.

Official 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.

Study sites (4)

CO

MA

OH