- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT06056908
Shwachman Diamond Syndrome Registry and Study (SDSR)
Shwachman Diamond Syndrome Registry and Study (SDS Registry)
Study Overview
Status
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.
Study Type
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: Akiko Shimamura, MD, PhD
- Email: akiko.shimamura@childrens.harvard.edu
Study Contact Backup
- Name: Karyn Brundige
- Email: sdsregistry-dl@childrens.harvard.edu
Study Locations
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Colorado
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Aurora, Colorado, United States, 80045
- Recruiting
- Children's Hospital Colorado
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Contact:
- Taizo Nakano, MD
- Email: Taizo.Nakano@childrenscolorado.org
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Massachusetts
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Boston, Massachusetts, United States, 02115
- Recruiting
- Boston Children's Hospital
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Contact:
- Akiko Shimamura, MD, PhD
- Email: akiko.shimamura@childrens.harvard.edu
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Contact:
- Karyn Brundige
- Email: sdsregistry-dl@childrens.harvard.edu
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Boston, Massachusetts, United States, 02115
- Recruiting
- Dana-Farber Cancer Institute
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Contact:
- Christopher R Reilly, MD
- Email: ChristopherR_Reilly@dfci.harvard.edu
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Ohio
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Cincinnati, Ohio, United States, 45229
- Recruiting
- Cincinnati Children's Hospital Medical Center
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Contact:
- Kasiani Myers, MD
- Email: kasiani.myers@cchmc.org
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Contact:
- Sara Loveless, RN
- Email: sara.loveless@cchmc.org
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
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.
Study Plan
How is the study designed?
Design Details
Cohorts and Interventions
Group / Cohort |
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Patients with SDS/SDS-Like conditions and their families
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Characterize the natural history, medical complications, and treatment outcomes for patients with SDS and SDS-Like conditions.
Time Frame: 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.
|
50 years
|
Investigate the molecular and genetic pathogenesis of SDS/SDS-Like condtions and their complications such as marrow failure and clonal evolution.
Time Frame: 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.
|
50 years
|
Identify new genes causing SDS/SDS-Like conditions
Time Frame: 50 years
|
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.
Time Frame: 50 years
|
The SDSR will disseminate information through the study website, conferences, and other scientific publications.
|
50 years
|
Collaborators and Investigators
Sponsor
Collaborators
Publications and helpful links
Helpful Links
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Digestive System Diseases
- Pathologic Processes
- Metabolic Diseases
- Skin Diseases
- Disease
- Hematologic Diseases
- Lipid Metabolism Disorders
- Pancreatic Diseases
- Congenital Bone Marrow Failure Syndromes
- Bone Marrow Failure Disorders
- Lipid Metabolism, Inborn Errors
- Syndrome
- Bone Marrow Diseases
- Exocrine Pancreatic Insufficiency
- Lipomatosis
- Shwachman-Diamond Syndrome
Other Study ID Numbers
- P00020466
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Shwachman-Diamond Syndrome
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Masonic Cancer Center, University of MinnesotaCompletedDiamond-Blackfan Anemia | Shwachman-Diamond Syndrome | Kostmann's NeutropeniaUnited States
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University Hospital FreiburgCompletedMyelodysplastic Syndromes | Fanconi Anemia | Dyskeratosis Congenita | Pearson Marrow-pancreas Syndrome | Shwachman-diamond SyndromeSpain, Germany, Switzerland, Austria, Netherlands, Italy, Czech Republic, Belgium, Denmark, Ireland
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Masonic Cancer Center, University of MinnesotaNational Marrow Donor ProgramCompletedSickle Cell Disease | Thalassemia | Severe Congenital Neutropenia | Diamond-Blackfan Anemia | Shwachman-Diamond SyndromeUnited States
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Emory UniversityChildren's Healthcare of AtlantaTerminatedSickle Cell Disease | Fanconi Anemia | Thalassemia | Severe Congenital Neutropenia | Wiskott-Aldrich Syndrome | Diamond-Blackfan Anemia | Severe Aplastic Anemia | Glanzmann Thrombasthenia | Leukocyte Adhesion Deficiency | Dyskeratosis-congenita | Chediak-Higashi Syndrome | Chronic-granulomatous Disease | Schwachman-Diamond...United States
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Washington University School of MedicineShwachman Diamond Syndrome Foundation; Barnes-Jewish HospitalRecruiting
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National Center for Research Resources (NCRR)James Whitcomb Riley Hospital for ChildrenCompletedThrombocytopenia | Dyskeratosis Congenita | Fanconi's Anemia | Shwachman Syndrome
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Diane GeorgeActive, not recruitingSickle Cell Disease | Hemoglobinopathies | Severe Congenital Neutropenia | Diamond-Blackfan Anemia | Severe Aplastic Anemia | Macrophage Activation Syndrome | Bone Marrow Failure Syndrome | Amegakaryocytic Thrombocytopenia | Schwachman Diamond Syndrome | Primary Immunodeficiency Syndromes | Acquired Immunodeficiency... and other conditionsUnited States
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St. Jude Children's Research HospitalCompletedAnemia, Aplastic | Diamond-Blackfan Anemia | Amegakaryocytic Thrombocytopenia | Kostmann SyndromeUnited States
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University of California, San FranciscoNational Cancer Institute (NCI)CompletedMyelodysplastic Syndromes | Leukemia | Congenital Amegakaryocytic Thrombocytopenia | Severe Congenital Neutropenia | Diamond-blackfan AnemiaUnited States