Shwachman-Diamond SyndromeSDSRNCT06056908
Shwachman Diamond Syndrome Registry and Study
An observational study of Shwachman-Diamond Syndrome and Shwachman-Diamond Syndrome-Like, run by Boston Children's Hospital at 4 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Shwachman-Diamond Syndrome, Shwachman-Diamond Syndrome-Like
- How many people
- 5,000 participants
- Where
- 4 sitesUnited States
- Study dates
- 19 Jan 2016to 1 Jan 2090
- How long will I take part?
- 90 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Child, Adult, Older adult
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.
Who may be able to join
None listed.
Who cannot join
- Patients with other diagnosed causes of bone marrow failure, exocrine pancreatic insufficiency and cancer predisposition will be excluded.
Trial locations and contacts
4 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Akiko Shimamura, MD, PhD contact
Karyn Brundige contact
United States4 sites, 4 recruiting
- Recruiting
Children's Hospital Colorado
Aurora, Colorado, 80045
Taizo Nakano, MD, taizo.nakano@childrenscolorado.org
- Recruiting
Boston Children's Hospital
Boston, Massachusetts, 02115
Akiko Shimamura, MD, PhD, akiko.shimamura@childrens.harvard.edu
Karyn Brundige, sdsregistry-dl@childrens.harvard.edu
- Recruiting
Dana-Farber Cancer Institute
Boston, Massachusetts, 02115
Christopher R Reilly, MD, ChristopherR_Reilly@dfci.harvard.edu
- Recruiting
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229
Kasiani Myers, MD, kasiani.myers@cchmc.org
Sara Loveless, RN, sara.loveless@cchmc.org
About this study
Official title: Shwachman Diamond Syndrome Registry and Study (SDS Registry)
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.
Read the 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.
- Keywords
- Bone marrow failure, Inherited bone marrow failure syndromes, Bone marrow, Neutropenia, Leukemia, MDS, Pancreas, Cancer predisposition
- Medical subject headings
- Shwachman-Diamond Syndrome, Bone Marrow Failure Disorders, Congenital Bone Marrow Failure Syndromes, Neutropenia, Leukemia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Patients with SDS/SDS-Like conditions and their families | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 50 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Sep 2023
- Study start19 Jan 2016
- Primary completion1 Jan 2090 (estimated)
- Study completion1 Jan 2090 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Shwachman-Diamond SyndromeStudies of the same condition, open and under way.
- More trials run by Boston Children's HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 5,000 participants (estimated)
- Target duration
- 90 Years
Sponsor and investigators
- Lead sponsor
- Boston Children's Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Children's Hospital Medical Center, Cincinnati
- Responsible party
- Principal investigator, Akiko Shimamura, Boston Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06056908
- Sponsor's protocol ID
- P00020466
- Acronym
- SDSR
- Status last verified
- Mar 2026
- First submitted
- 14 Sep 2023
- Last updated
- 6 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Shwachman Diamond Syndrome Registry and Study (SDS Registry)
- ClinicalTrials.gov ID
- NCT06056908
- Acronym / sponsor ID
- SDSR / P00020466
- Keywords
- Bone marrow failure, Inherited bone marrow failure syndromes, Bone marrow, Neutropenia, Leukemia, MDS, Pancreas, Cancer predisposition
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 5,000 participants (estimated)
- Lead sponsor
- Boston Children's HospitalUniversity, hospital or other
- Collaborators
- Children's Hospital Medical Center, Cincinnati
- Study start
- 19 Jan 2016 (actual)
- Primary completion
- 1 Jan 2090 (estimated)
- Study completion
- 1 Jan 2090 (estimated)
- First posted
- 28 Sep 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 90 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with SDS/SDS-Like conditions and their families | – | – |
Who may qualify
- Sex
- All
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (0 listed)
Key exclusion criteria (1 listed)
- Patients with other diagnosed causes of bone marrow failure, exocrine pancreatic insufficiency and cancer predisposition will be excluded.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
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.
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.
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Apr 2026.
- Website for the SDS RegistryLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Akiko Shimamura, MD, PhD contact
Karyn Brundige contact
4 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Shwachman-Diamond Syndrome and Shwachman-Diamond Syndrome-Like, run by Boston Children's Hospital at 4 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 0 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 6 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Akiko Shimamura, MD, PhD (akiko.shimamura@childrens.harvard.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Characterize the natural history, medical complications, and treatment outcomes for patients with SDS and SDS-Like conditions. (time frame: 50 years). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Apr 2026.