Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform
Recruiting now
Conditions studied: Shwachman-Diamond Syndrome, SDS, IBMF, Congenital Neutropenia, Heme Malignancy, Shwachman Syndrome, Inherited Bone Marrow Failure, Exocrine Pancreatic Insufficiency, WHIM, ELANE, SBDS Gene Mutation, EFL1 Gene Mutation, DNAJC21 Gene Mutation, SRP54 Gene Mutation, Inherited Cancer Syndrome, Inherited Cancer-Predisposing Syndrome, Neutropenia, Severe Chronic, Neutropenia Other, Neutropenia Chronic Benign, Ribosome Alteration, Ribosomopathy, Immune Deficiency, Inherited BMF Syndrome, Inherited Immunodeficiency Diseases, Cognitive Delay, Mild, Myelodysplastic Syndromes, Pancytopenia
In brief
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 living with SDS via a safe, secure, and convenient online platform, to * expand the understanding of SDS * improve the lives of people with SDS, and * accelerate the development of new therapies and cures for SDS. By joining, participants will receive early access to relevant information about new clinical trials and other research opportunities (such as clinical registries) based on their profile, accelerating research and increasing clinical trial impact and recruitment success. The platform, consent forms, and surveys are available in five languages: English, Spanish, French, German, and Italian. More languages to come.
Key facts
- Study ID
- NCT06999954
- Run by
- Shwachman-Diamond Syndrome Alliance Inc
- People needed
- 8000
- Starts
- 2024-02-07
- Expected to finish
- 2088-12-01
- Last updated by the study team
- 2025-05-31
Who can join
Age: any. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- 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.
You may not qualify if…
- ● People who do not meet the above criteria.
Where it is running
- Shwachman-Diamond Syndrome Alliance Inc. — Woburn, Massachusetts, United States (enrolling)
Full record on ClinicalTrials.gov
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