Clinical trial NCT06056908: Shwachman Diamond Syndrome Registry and Study
Official title: Shwachman Diamond Syndrome Registry and Study (SDS Registry)
Study type: OBSERVATIONAL
Overall status: RECRUITING
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
Lead sponsor: Boston Children's Hospital
Sponsor class: OTHER
Collaborators: name: Children's Hospital Medical Center, Cincinnati
First posted: 2023-09-28
Enrollment: 5000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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.

Detailed description: The Shwachman-Diamond Syndrome Registry (SDSR) is dedicated to accelerating research and treatment for SDS to improve survival and quality of life for all patients with the disease. The SDSR is run jointly by Boston Children's Hospital and Cincinnati Children's Hospital Medical Center.

Objective and Aims:

The long term goals of the Registry are to improve diagnosis, inform medical management, and to develop better treatments for SDS and SDS-Like disorders.

To achieve these objectives, the Registry has the following specific aims:

* Characterize the natural history, medical complications, and treatment outcomes for patients with SDS and SDS-Like disorders.
* Investigate the molecular and genetic pathogenesis of SDS/SDS-Like conditions and their complications such as marrow failure and clonal evolution.
* Identify new genes causing SDS/SDS-Like conditions.
* Provide education on the diagnosis, medical management and treatment of SDS for patients, families and the medical/scientific community.

Methods: The SDSR collects information from medical records and biological samples. Samples for the SDSR are collected when they are obtained for clinical care so that no extra visits or procedures are needed. These samples may include blood, bone marrow, skin cells, saliva, or discards from other clinical procedures. Family members may also contribute blood samples. All information obtained by the SDSR is housed on a secure, HIPAA-compliant database. No personal information is shared outside of the study team.

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.

Primary outcomes:
measure: Characterize the natural history, medical complications, and treatment outcomes for patients with SDS and SDS-Like conditions.
timeFrame: 50 years
measure: Investigate the molecular and genetic pathogenesis of SDS/SDS-Like condtions and their complications such as marrow failure and clonal evolution.
timeFrame: 50 years
measure: Identify new genes causing SDS/SDS-Like conditions
timeFrame: 50 years
measure: Provide education on the diagnosis, medical management, and treatment of SDS/SDS-Like conditions for patients, families, and the medical/scientific community.
timeFrame: 50 years
Secondary outcomes:
Other outcomes:
Locations:
city: Aurora
country: United States
facility: Children's Hospital Colorado
state: Colorado
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
city: Boston
country: United States
facility: Dana-Farber Cancer Institute
state: Massachusetts
city: Cincinnati
country: United States
facility: Cincinnati Children's Hospital Medical Center
state: Ohio
Study officials:
References: