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Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform

The Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform Program (SDS-GPS Program)

Who can join

All ages · All sexes

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.

About the study

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.

Sponsor: Shwachman-Diamond Syndrome Alliance Inc · Participants: 8,000 · Started: Feb 7, 2024

Contact the study team

• Eszter Hars, Ph.D. · Phone: 6173291838
• SDS-GPS Program Team · Phone: 6173291838

Official record on ClinicalTrials.gov — NCT06999954

Locations in the U.S.

Conditions

• Exocrine Pancreatic Insufficiency
• Hereditary Neoplastic Syndromes
• Follicular Lymphoma
• Myelodysplastic Syndromes

From ClinicalTrials.gov, data retrieved Sep 29, 2026. Each study sets its own eligibility; the study team decides who can join.