Global Shwachman-Diamond Syndrome Patient Survey and Collaboration Platform

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Shwachman-Diamond Syndrome Alliance Inc.
  Woburn, Massachusetts, United States Recruiting

Study contacts

• Study coordinator: Eszter Hars, Ph.D.
• Email: ehars@sdsalliance.org
• Phone: 6173291838

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.