Shwachman Diamond Syndrome Registry and Study
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorBoston Children's Hospital
About this trial
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
This trial does not accept healthy volunteersQualifiers
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
Disqualifiers
None
Trial 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.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
5,000 Participants
are grouped into 1 trial groupGroup A: Patients with SDS/SDS-Like conditions and their families
Trial outcomes
Primary outcomes
1
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.
Time frame
50 years2
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.
Time frame
50 years3
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.
Time frame
50 years4
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.
Time frame
50 yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Boston Children's Hospital
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Collaborator
Source ClinicalTrials.gov