NCT06999954Recruiting
Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform
The Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform Program (SDS-GPS Program)
Source: ClinicalTrials.gov · Last updated 31 May 2025 · Not updated for over 12 months - ask the site whether it is still open
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 8000 (estimated)
- First submitted
- 20 Jul 2024
- Start date
- Feb 2024
- Primary completion date
- Dec 2088
- Lead sponsor
- Shwachman-Diamond Syndrome Alliance Inc
- NCT number
- NCT06999954
What you commit to
- Study type: Observational
- Planned participants: 8000
- From Feb 2024 to the primary completion date, Dec 2088
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other
- ● People who do not meet the above criteria.
Who the study is looking for
- 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.
Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Shwachman-Diamond Syndrome Alliance Inc. Coordinator of this site? Confirm its status | Woburn | United States | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.