Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform

Launched by SHWACHMAN-DIAMOND SYNDROME ALLIANCE INC · May 23, 2025

Keywords

ClinConnect Summary

The Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform (SDS-GPS) is a clinical trial designed to help patients and their families around the world share their experiences living with Shwachman-Diamond Syndrome (SDS) and related conditions. By participating in this online program, individuals can contribute valuable information that aims to improve understanding of SDS, enhance the quality of life for those affected, and help speed up the development of new treatments. Participants will also receive early updates about relevant clinical trials and research opportunities that match their health profiles.

Anyone of any age who has a confirmed diagnosis of SDS or similar syndromes is welcome to join, along with their caregivers and family members. This includes those with specific genetic mutations related to SDS and other inherited blood disorders. The program is open to participants from various backgrounds, as it offers materials in five different languages, with more to come. Joining this initiative not only allows individuals to share their stories but also plays a crucial role in advancing research for better care and potential cures.

Gender

ALL

Eligibility 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.