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RecruitingNCT06999954

Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform

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

Sponsor

Shwachman-Diamond Syndrome Alliance Inc

Enrollment

8,000 participants

Start Date

Feb 7, 2024

Study Type

OBSERVATIONAL

Conditions

Myelodysplastic SyndromesShwachman-Diamond SyndromeSDSIBMFCongenital NeutropeniaHeme MalignancyShwachman SyndromeInherited Bone Marrow FailureExocrine Pancreatic InsufficiencyWHIMELANESBDS Gene MutationEFL1 Gene MutationDNAJC21 Gene MutationSRP54 Gene MutationInherited Cancer SyndromeInherited Cancer-Predisposing SyndromeNeutropenia, Severe ChronicNeutropenia OtherNeutropenia Chronic BenignRibosome AlterationRibosomopathyImmune DeficiencyInherited BMF SyndromeInherited Immunodeficiency DiseasesCognitive Delay, MildPancytopenia

Summary

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.

Eligibility

Plain Language Summary

Simplified for easier understanding

This is a global patient survey and data-sharing program for people with Shwachman-Diamond Syndrome (SDS) — a rare inherited condition that affects the pancreas, bone marrow, and immune system — and related rare blood disorders. The goal is to better understand these conditions and support future research. **You may be eligible if...** - You have a confirmed diagnosis of Shwachman-Diamond Syndrome (including genetic or clinical diagnosis) - You have an SDS-like syndrome caused by mutations in related genes - You have another inherited blood disorder such as Fanconi Anemia, RUNX1-FPD, or a congenital neutropenia - You are a parent, caregiver, or close family member of someone with one of these conditions (including those who have passed away) - Patients of any age may participate **You may NOT be eligible if...** - You do not have one of the above diagnoses or a family connection to someone who does Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Locations(1)

Shwachman-Diamond Syndrome Alliance Inc.

Woburn, Massachusetts, United States

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NCT06999954

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