Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform

Plain-language summary

This study is a survey-based platform that gathers information from, and connects, people who have Shwachman-Diamond Syndrome and related conditions. Patients of all ages with a genetically or clinically confirmed SDS diagnosis (particularly biallelic mutations in the SBDS or EFL1 genes), along with their parents and caregivers, may take part. This is a non-phase study and is currently recruiting participants.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Recruiting

Sponsor

Shwachman-Diamond Syndrome Alliance Inc

Start date

2/7/2024

Estimated completion

12/1/2088

Countries

United States

Related genes

Locations

• Woburn, United States

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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.