NCT06999954 Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform
| NCT ID | NCT06999954 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Shwachman-Diamond Syndrome Alliance Inc |
| Condition | Shwachman-Diamond Syndrome |
| Study Type | OBSERVATIONAL |
| Enrollment | 8,000 participants |
| Start Date | 2024-02-07 |
| Primary Completion | 2088-12 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 8,000 participants in total. It began in 2024-02-07 with a primary completion date of 2088-12.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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 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.
Contact & Investigator
Frequently Asked Questions
Who can join the NCT06999954 clinical trial?
This trial is open to participants of all sexes, studying Shwachman-Diamond Syndrome. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06999954 currently recruiting?
Yes, NCT06999954 is actively recruiting participants. Contact the research team at ehars@sdsalliance.org for enrollment information.
Where is the NCT06999954 trial being conducted?
This trial is being conducted at Woburn, United States.
Who is sponsoring the NCT06999954 clinical trial?
NCT06999954 is sponsored by Shwachman-Diamond Syndrome Alliance Inc. The trial plans to enroll 8,000 participants.