Recruiting

Observational Study

Sponsor:

Boston Children's Hospital

Code:

NCT06056908

Conditions

Shwachman-Diamond Syndrome

Shwachman-Diamond Syndrome-Like

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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.

Conditions

Shwachman-Diamond Syndrome

Shwachman-Diamond Syndrome-Like

Study ID

NCT06056908

Start date

Jan 19, 2016

Status verified date

Mar, 2026

Completion date

Jan 1, 2090

Anticipated

Primary completion date

Jan 1, 2090

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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 Design

Enrollment

5000 participants

Anticipated

Interventions and Outcome Measures

Arms

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 ]
  • 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 ]

Central Contacts and Locations

Central contacts

Akiko Shimamura, MD, PhD

akiko.shimamura@childrens.harvard.edu

Karyn Brundige

sdsregistry-dl@childrens.harvard.edu

Locations

Children's Hospital Colorado

Recruiting

Aurora, Colorado, United States, 80045

Contacts

Taizo Nakano, MD

taizo.nakano@childrenscolorado.org

Boston Children's Hospital

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

Akiko Shimamura, MD, PhD

akiko.shimamura@childrens.harvard.edu

Karyn Brundige

sdsregistry-dl@childrens.harvard.edu

Dana-Farber Cancer Institute

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

Christopher R Reilly, MD

ChristopherR_Reilly@dfci.harvard.edu

Cincinnati Children's Hospital Medical Center

Recruiting

Cincinnati, Ohio, United States, 45229

Contacts

Kasiani Myers, MD

kasiani.myers@cchmc.org

Sara Loveless, RN

sara.loveless@cchmc.org

More Information

Sponsor

Boston Children's Hospital

Last update posted

Apr 6, 2026

Last verified

Mar, 2026

Keywords

  • Bone marrow failure
  • Inherited bone marrow failure syndromes
  • Bone marrow
  • Neutropenia
  • Leukemia
  • MDS
  • Pancreas
  • Cancer predisposition

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Boston Children's Hospital on 2026-04-06.