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2016-01-19
2090-01-01
2090-01-01
5000
NCT06056908
Boston Children's Hospital
Boston Children's Hospital
OBSERVATIONAL
Shwachman Diamond Syndrome Registry and Study
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.
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.
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
| Study Registration Dates | Results Reporting Dates | Study Record Updates |
|---|---|---|
2023-09-14 | N/A | 2023-09-25 |
2023-09-25 | N/A | 2023-09-28 |
2023-09-28 | N/A | 2023-09 |
This section provides details of the study plan, including how the study is designed and what the study is measuring.
Primary Purpose:
N/A
Allocation:
N/A
Interventional Model:
N/A
Masking:
N/A
Arms and Interventions
| Participant Group/Arm | Intervention/Treatment |
|---|---|
| : Patients with SDS/SDS-Like conditions and their families |
| Primary Outcome Measures | Measure Description | Time Frame |
|---|---|---|
| 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 |
| Secondary Outcome Measures | Measure Description | Time Frame |
|---|
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
|
Study Contact Name: Akiko Shimamura, MD, PhD Phone Number: Email: akiko.shimamura@childrens.harvard.edu |
Study Contact Backup Name: Karyn Brundige Phone Number: Email: sdsregistry-dl@childrens.harvard.edu |
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person’s general health condition or prior treatments.
Ages Eligible for Study:
ALL
Sexes Eligible for Study:
Accepts Healthy Volunteers:
This is where you will find people and organizations involved with this study.
The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.
General Publications
No publications available
