NCT06056908 Shwachman Diamond Syndrome Registry and Study
| NCT ID | NCT06056908 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Boston Children's Hospital |
| Condition | Shwachman-Diamond Syndrome |
| Study Type | OBSERVATIONAL |
| Enrollment | 5,000 participants |
| Start Date | 2016-01-19 |
| Primary Completion | 2090-01-01 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 5,000 participants in total. It began in 2016-01-19 with a primary completion date of 2090-01-01.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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.
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.
Contact & Investigator
Akiko Shimamura, MD, PhD
✉ akiko.shimamura@childrens.harvard.eduFrequently Asked Questions
Who can join the NCT06056908 clinical trial?
This trial is open to participants of all sexes, studying Shwachman-Diamond Syndrome. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06056908 currently recruiting?
Yes, NCT06056908 is actively recruiting participants. Contact the research team at akiko.shimamura@childrens.harvard.edu for enrollment information.
Where is the NCT06056908 trial being conducted?
This trial is being conducted at Aurora, United States, Boston, United States, Boston, United States, Cincinnati, United States.
Who is sponsoring the NCT06056908 clinical trial?
NCT06056908 is sponsored by Boston Children's Hospital. The trial plans to enroll 5,000 participants.