Actively Recruiting

All Genders
NCT06999954

Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform

Led by Shwachman-Diamond Syndrome Alliance Inc · Updated on 2025-05-31

8000

Participants Needed

1

Research Sites

3382 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

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.

CONDITIONS

Official Title

Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform

Who Can Participate

All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Patients of any age with a confirmed diagnosis of Shwachman-Diamond Syndrome (genetic or clinical diagnosis).
  • Patients with confirmed SDS-like syndromes caused by mutations such as DNAJC21 or SRP54.
  • Patients with other inherited blood disorders like RUNX1-FPD, Fanconi Anemia, or congenital neutropenias like ELANE neutropenia.
  • Parents, caregivers, and close relatives of patients, including those of deceased patients.
Not Eligible

You will not qualify if you...

  • Individuals who do not meet the inclusion criteria listed above.

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 1 location

1

Shwachman-Diamond Syndrome Alliance Inc.

Woburn, Massachusetts, United States, 01888

Actively Recruiting

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Research Team

E

Eszter Hars, Ph.D.

CONTACT

S

SDS-GPS Program Team

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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