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Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform

Recruitingn/aAges any - anyAllShwachman-Diamond Syndrome Alliance Inc
NCT06999954 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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.

Sign in to get the eligibility rules as simple questions to take to your doctor.

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📋 Eligibility rules (as published)
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.
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What it tests

  • Not listed
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Where

1 site
Shwachman-Diamond Syndrome Alliance Inc.
Woburn, United States
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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