Shwachman Diamond Syndrome Registry and Study (SDS Registry)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 5,000
- 试验地点
- 4
- 主要终点
- Characterize the natural history, medical complications, and treatment outcomes for patients with SDS and SDS-Like conditions.
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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
排除标准
- •Patients with other diagnosed causes of bone marrow failure, exocrine pancreatic insufficiency and cancer predisposition will be excluded.
研究组 & 干预措施
Patients with SDS/SDS-Like conditions and their families
结局指标
主要结局
Characterize the natural history, medical complications, and treatment outcomes for patients with SDS and SDS-Like conditions.
时间窗: 50 years
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.
Provide education on the diagnosis, medical management, and treatment of SDS/SDS-Like conditions for patients, families, and the medical/scientific community.
时间窗: 50 years
The SDSR will disseminate information through the study website, conferences, and other scientific publications.
Investigate the molecular and genetic pathogenesis of SDS/SDS-Like condtions and their complications such as marrow failure and clonal evolution.
时间窗: 50 years
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.
Identify new genes causing SDS/SDS-Like conditions
时间窗: 50 years
The SDSR will sequence DNA from patient samples to try to identify new genes that are involved in SDS/SDS-like phenotypes.
次要结局
未报告次要终点
研究者
Akiko Shimamura
Director, Bone Marrow Failure and Myelodysplastic Syndrome Program
Boston Children's Hospital