Shwachman-Diamond SyndromeSDS-GPSNCT06999954
Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform
An observational study of Shwachman-Diamond Syndrome and SDS, run by Shwachman-Diamond Syndrome Alliance Inc at 1 site in United States.
Trial 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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Shwachman-Diamond Syndrome, SDS, IBMF
- How many people
- 8,000 participants
- Where
- 1 siteUnited States
- Study dates
- 7 Feb 2024to Dec 2088
- How long will I take part?
- 120 Years
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients and their caregivers may enroll from anywhere in the world using our online platform. Individuals for whom English is not their primary language may be enrolled with a translated informed consent form (and translated surveys if available). Currently available languages include English, Spanish, French, Italian, and German.
Who may be able to join
- 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.
Who cannot join
- ● People who do not meet the above criteria.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Shwachman-Diamond Syndrome Alliance Inc.
Woburn, Massachusetts, 01888
Eszter Hars, Ph.D., 6173291838, ehars@sdsalliance.org
SDS-GPS Program Team, +16173291838, gps@sdsalliance.org
About this study
Official title: The Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform Program (SDS-GPS Program)
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.
Read more
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.
Read the detailed description
What is SDS-GPS?
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, with the goal of
- expanding the understanding of SDS and related conditions
- improving the lives of people with SDS and related conditions, and
- accelerating the development of new therapies and cures for SDS.
SDS-GPS was created for the patients, by the patients, with thoughtful input from patients, families, advocates, caregivers, researchers, clinicians, and regulators.
Participants will be part of a global community that cares, turns hope into action, and drives research. Participants' experience - whether it falls in the mild or severe end of the spectrum - matters. Their voice counts.
How can patients' stories help drive therapies and cures?
Participants' stories help paint a more complete picture of what SDS is and how it impacts the people living with it. Their participation helps build a strong, engaged community, which is critical to drive progress. Without patients and their families, research cannot advance.
The investigators (the SDS-GPS team at the SDS Alliance) use participants' de-identified aggregate survey responses and other data they share to develop a deeper understanding of the unmet needs of the community.
The investigators use the insights to
- Prioritize research, educational resources, and community programming
- Promote data and knowledge sharing via collaborations, publications, conference presentations, and other communication channels
- Provide participants with information about relevant research opportunities (such as the SDS Registry and other natural history studies), clinical trials, educational resources, and community support connections.
What aspects of their story can participants share through SDS-GPS?
Surveys on the SDS-GPS Program Platform are designed to be quick and easy, without the need to have to look up any details from medical records. They can save their progress and come back anytime.
Survey topics include:
- Socio-demographics
- Medical history and diagnostics
- Treatment and disease progression
- Management of and access to care
- Quality of life
How does SDS-GPS work?
- Sign up for a free SDS-GPS account and enter a little bit about the participant. Enrolling and participating takes little time, and they can come back later to update any information.
- Answer surveys from the comfort of their home at any time that works for them.
- Privacy and security are protected to the highest standard.
- Move research forward without any clinic visits or virtual appointments. With participants' consent, the investigators publish and share de-identified data (your survey responses) with approved researchers to support research to benefit the SDS community. The information participants provide through easy surveys is structured and coded behind the scenes, to be usable for high-quality, impactful research.
- Keep track of the participants' medical appointments, medications, and symptoms via their SDS-GPS account, and have all the information at their fingertips whenever and wherever they need it.
- Share any information participants like with their care team. Participants retain full control over access.
The platform, consent forms, and surveys are available in five languages: English, Spanish, French, German, and Italian. More languages to come.
- Conditions
- Shwachman-Diamond Syndrome, SDS, IBMF, Congenital Neutropenia, Heme Malignancy, Shwachman Syndrome
- Keywords
- Shwachman-Diamond Syndrome, Shwachman Diamond Syndrome, Shwachman Syndrome, SDS, IBMF, Inherited Bone Marrow Failure, Congenital Neutropenia, Immune Deficiency, SDS-like syndrome, genetic cancer predisposition, WHIM, ELANE, SBDS, EFL1, SRP54, DNAJC21, severe chronic neutropenia, exocrine pancreatic insufficiency, ribosomopathy
- Medical subject headings
- Shwachman-Diamond Syndrome, Neutropenia, Severe Congenital, Autosomal Recessive 3, Exocrine Pancreatic Insufficiency, Neoplastic Syndromes, Hereditary, Neutropenia, severe chronic, Immunologic Deficiency Syndromes, Congenital Bone Marrow Failure Syndromes, Primary Immunodeficiency Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
Patient (or caregiver) reported symptoms over time
Patients report symptoms via surveys, grouped by organ system.
Measured: At baseline and every 12 months, prospectively.
Genetics report uploaded by patient (or caregiver)
Clinical genetics reports are uploaded by the patient (or caregiver) and curated by study staff to confirm a genetic diagnosis, understand variants, and assess the use of appropriate genetic testing methodologies.
Measured: Through study completion when the genetics report is available.
Quality of life measures via PROMIS surveys
PROMIS surveys in various domains, such as fatigue, pain, anxiety, and depression, are administered as surveys and scored with the standard PROMIS scoring methods.
Specific PROMIS measures to include:
v1.0 Anxiety 8a short form v1.0 Depression 8a short form v1.0 Pain Interference 6a short form v2.0 Cognitive Function 8a short form v1.0 Self-Efficacy for Managing Chronic Conditions: Manage Daily Activities 8a short form v1.0 - Self-Efficacy for Managing Symptoms 8a v2.0 Satisfaction Social Roles and Activities 8a short form v2.0 Ability to Part Social Roles and Activities 8a short form v2.0 Social Isolation 8a short form v1.0 Fatigue 13a short form (FACIT-Fatigue)
v3.0 PP: Depressive Symptoms 6a short form v3.0 PP: Fatigue 10a short form v3.0 PP: Mobility 7a short form v3.0 PP: Pain Interference 8a short form v1.0 PP: Cognitive Function 7a short form
Measured: Through study completion, an average of 2-4 times per year.
Patient reported burden of disease and treatment outcomes
Patients fill out surveys to report on disease burden (such as number and duration of hospitalizations), treatment burden (such as surveillance), and treatment outcomes (such as HSC transplant outcomes)
Measured: At baseline and every 12 months, prospectively.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 May 2025
- Study start7 Feb 2024
- Primary completionDec 2088 (estimated)
- Study completionDec 2088 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Shwachman-Diamond SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 8,000 participants (estimated)
- Target duration
- 120 Years
Sponsor and investigators
- Lead sponsor
- Shwachman-Diamond Syndrome Alliance Inc
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06999954
- Sponsor's protocol ID
- NB300118
- Acronym
- SDS-GPS
- Status last verified
- May 2025
- First submitted
- 20 Jul 2024
- Last updated
- 31 May 2025
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Undecided: This study is focused on patient reported data and findings will be published in the aggregate to safeguard patient personal health information.