Global Shwachman-Diamond Syndrome Patient Survey and Collaboration Platform
The Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform Program (SDS-GPS Program)
An online program for people with Shwachman-Diamond Syndrome and their families to share health experiences, join a global community, and receive early information about research and clinical opportunities.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 8000 (estimated) |
| Sex | All |
| Sponsor | Shwachman-Diamond Syndrome Alliance Inc Academic / other |
| Locations | 1 site (Woburn, Massachusetts) |
| Trial ID | NCT06999954 on ClinicalTrials.gov |
What this trial studies
This observational, patient-reported platform collects de-identified survey responses from people with confirmed Shwachman-Diamond Syndrome, SDS-like genetic conditions, related heritable hematologic disorders, and their caregivers. The secure online system is available in multiple languages and is designed to capture clinical history, quality-of-life information, and patient priorities. Aggregated data will be used to identify unmet needs, prioritize research questions, and help match patients to relevant clinical registries and trials. Participants also receive early notifications about new research opportunities based on their profiles.
Who should consider this trial
Good fit: People of any age with a confirmed genetic or clinical diagnosis of SDS, SDS-like syndromes (for example DNAJC21 or SRP54-related), other heritable hematologic disorders or congenital neutropenias, and their parents or caregivers are ideal candidates.
Not a fit: Individuals without a confirmed SDS-related diagnosis, those seeking direct therapeutic interventions rather than reporting experiences, or people without internet access or ability to use the supported languages may not gain benefit from participation.
Why it matters
Potential benefit: If successful, the platform could expand knowledge of disease variability, improve research prioritization, and accelerate patient matching and recruitment for clinical trials.
How similar studies have performed: Patient registries and online survey platforms for other rare blood disorders have previously helped improve understanding of disease natural history and boosted trial recruitment, so this approach has precedent.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: 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 Criteria: ● People who do not meet the above criteria.
Where this trial is running
Woburn, Massachusetts
- Shwachman-Diamond Syndrome Alliance Inc. — Woburn, Massachusetts, United States (Recruiting)
Study contacts
- Study coordinator: Eszter Hars, Ph.D.
- Email: ehars@sdsalliance.org
- Phone: 6173291838
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.