Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform (NCT06999954) | Clinical Trial Compass
RecruitingNot Applicable
Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform
United States8,000 participantsStarted 2024-02-07
Plain-language 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.
Who can participate
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Since this trial is a global patient survey and registry rather than a treatment study, what does it actually mean for my day-to-day care — would joining it change anything about the treatment I receive?
2This study is collecting genetic reports directly from patients or caregivers — would it be helpful for me to upload my SBDS, EFL1, DNAJC21, or SRP54 gene mutation results, and is my current genetic testing complete enough to be meaningful for a registry like this?
3The survey tracks symptoms and quality of life over time using PROMIS questionnaires — given everything I'm managing with Shwachman-Diamond Syndrome, like bone marrow failure, pancreatic insufficiency, and possible cognitive delays, how much time and effort would completing these surveys realistically require?
4Since this registry is also tracking disease burden and treatment outcomes across many patients, could the data collected here eventually influence the treatment options or monitoring protocols available to me or others with SDS in the future?
5Are there any privacy concerns I should think about before uploading my genetic information and health data to a global platform, and how is that information protected?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Patient (or caregiver) reported symptoms over time
Timeframe: At baseline and every 12 months, prospectively.
2
Genetics report uploaded by patient (or caregiver)
Timeframe: Through study completion when the genetics report is available.
3
Quality of life measures via PROMIS surveys
Timeframe: Through study completion, an average of 2-4 times per year.
4
Patient reported burden of disease and treatment outcomes
Timeframe: At baseline and every 12 months, prospectively.