Shwachman Diamond Syndrome Registry and Study

Conditions

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

Eligibility Criteria

Sex

ALL

Age

N/A - N/A

Healthy Volunteers

Not accepted

Study Details

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.

Key Dates

Start date

Jan 19, 2016

Status verified

Mar 2026

Primary completion

Jan 1, 2090

Completion

Jan 1, 2090

Study Design

Enrollment

5,000 participants (estimated)

Arms

• Arm: Patients with SDS/SDS-Like conditions and their families

Primary Outcome Measure

Characterize the natural history, medical complications, and treatment outcomes for patients with SDS and SDS-Like conditions. [ Time Frame: 50 years ]

Central Contacts

• Akiko Shimamura, MD, PhD
  [email protected]
• Karyn Brundige
  [email protected]

Locations (4)

Find similar trials in Aurora, CO

Related Studies

• Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform
  Recruiting · Shwachman-Diamond Syndrome Alliance Inc · Woburn, Massachusetts