Shwachman Diamond Syndrome Registry and Study

NCT06056908 | Recruiting

• 1 other identifier: P00020466
• Study Type: observational
• Target: 5,000
• Locations: 1 country
• Sites: 4

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

Keywords

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

Outcome Measures

Primary Outcomes (4)

• Characterize the natural history, medical complications, and treatment outcomes for patients with SDS and SDS-Like conditions.

  The SDSR will collect clinical information regarding SDS and SDS-Like conditions. The goal is to understand the natural history, treatment outcomes and complications of these rare disorders in order to improve diagnosis, medical management, and treatment.

  50 years

• Investigate the molecular and genetic pathogenesis of SDS/SDS-Like condtions and their complications such as marrow failure and clonal evolution.

  The SDSR will coordinate a repository of blood, cord blood, bone marrow, saliva, skin fibroblast, and tumor samples and cell lines from patients with SDS and SDS-Like conditions for basic science studies of molecular and genetic pathways causing these disorders and their complications. We will also study how genetic/molecular pathways may be targeted or corrected for the development of new therapies. To this end, we will create immortalized cell lines including EBV-transformed lymphoblasts, immortalized fibroblasts, and induced pluripotent stem cells. These cell lines will provide a renewable source of rare patient-derived material for these studies.

  50 years

• Identify new genes causing SDS/SDS-Like conditions

  The SDSR will sequence DNA from patient samples to try to identify new genes that are involved in SDS/SDS-like phenotypes.

  50 years

• Provide education on the diagnosis, medical management, and treatment of SDS/SDS-Like conditions for patients, families, and the medical/scientific community.

  The SDSR will disseminate information through the study website, conferences, and other scientific publications.

  50 years

Study Arms (1)

Patients with SDS/SDS-Like conditions and their families

Eligibility Criteria

• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients with known or suspected SDS or SDS-Like conditions and their relatives are eligible for the study. Patients may indicate interest in participation by contacting the registry team through the website at www.sdsregistry.org.

You may qualify if:

• 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

You may not qualify if:

• Patients with other diagnosed causes of bone marrow failure, exocrine pancreatic insufficiency and cancer predisposition will be excluded.

Sponsors & Collaborators

• Boston Children's Hospital: lead
• Children's Hospital Medical Center, Cincinnati: collaborator

Study Sites (4)

Children's Hospital Colorado

Aurora, Colorado, 80045, United States

RECRUITING

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

Dana-Farber Cancer Institute

Boston, Massachusetts, 02115, United States

RECRUITING

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

RECRUITING

Related Links

• Website for the SDS Registry

Biospecimen

Retention: SAMPLES WITH DNA

Peripheral blood, bone marrow, skin cells, saliva or a buccal swab, and discards from clinical procedures may be collected.

MeSH Terms

Conditions

Shwachman-Diamond Syndrome; Bone Marrow Failure Disorders; Congenital Bone Marrow Failure Syndromes; Neutropenia; Leukemia

Condition Hierarchy (Ancestors)

Exocrine Pancreatic Insufficiency; Pancreatic Diseases; Digestive System Diseases; Bone Marrow Diseases; Hematologic Diseases; Hemic and Lymphatic Diseases; Lipid Metabolism, Inborn Errors; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipomatosis; Infant, Newborn, Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Agranulocytosis; Leukopenia; Cytopenia; Leukocyte Disorders; Neoplasms by Histologic Type; Neoplasms

Central Study Contacts

Akiko Shimamura, MD, PhD

CONTACT

akiko.shimamura@childrens.harvard.edu

Karyn Brundige

CONTACT

sdsregistry-dl@childrens.harvard.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 90 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Director, Bone Marrow Failure and Myelodysplastic Syndrome Program

Study Record Dates

• First Submitted: September 14, 2023
• First Posted: September 28, 2023
• Study Start: January 19, 2016
• Primary Completion (Estimated): January 1, 2090
• Study Completion (Estimated): January 1, 2090
• Last Updated: September 28, 2023

Record last verified: 2023-09

Data Sharing

• IPD Sharing: Will not share

Locations

US (4)