Status:
RECRUITING
Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform
Lead Sponsor:
Shwachman-Diamond Syndrome Alliance Inc
Conditions:
Shwachman-Diamond Syndrome
SDS
Eligibility:
All Genders
Brief Summary
The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share their experience livi...
Detailed Description
What is SDS-GPS? The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share the...
Eligibility Criteria
Inclusion
- The Program invites patients of all ages who have a confirmed diagnosis of the below, using established diagnostic guidelines, plus their parents/caregivers.
- Patients with a confirmed Shwachman-Diamond Syndrome (SDS) diagnosis, including a genetic or clinical diagnosis. The initial focus will be on patients with a genetic diagnosis of SDS based on biallelic mutations in SBDS or EFL1.
- Patients with a confirmed diagnosis of an SDS-like syndrome (e.g. due to mutations in DNAJC21, SRP54, or other genes that may be associated with an SDS-like syndrome in the future).
- Patients with other heritable hematological malignancy disorders (such as RUNX1-FPD, Fanconi Anemia) and/or congenital neutropenias (such as ELANE neutropenia) are also eligible for inclusion.
- Caregivers, parents, and close relatives of all patients above, including of patients alive or deceased.
Exclusion
- ● People who do not meet the above criteria.
Key Trial Info
Start Date :
February 7 2024
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 1 2088
Estimated Enrollment :
8000 Patients enrolled
Trial Details
Trial ID
NCT06999954
Start Date
February 7 2024
End Date
December 1 2088
Last Update
May 31 2025
Active Locations (1)
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1
Shwachman-Diamond Syndrome Alliance Inc.
Woburn, Massachusetts, United States, 01888