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Shwachman Diamond Syndrome Registry and Study

NCT06056908 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 5000

Last updated 2026-04-06

No results posted yet for this study

Summary

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.

Conditions

  • Shwachman-Diamond Syndrome
  • Shwachman-Diamond Syndrome-Like

Sponsors & Collaborators

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2016-01-19
Primary Completion
2090-01-01
Completion
2090-01-01

Countries

  • United States

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06056908 on ClinicalTrials.gov