Clinical trial NCT06999954: Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform
Official title: The Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform Program (SDS-GPS Program)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Shwachman-Diamond Syndrome
SDS
IBMF
Congenital Neutropenia
Heme Malignancy
Shwachman Syndrome
Inherited Bone Marrow Failure
Exocrine Pancreatic Insufficiency
WHIM
ELANE
SBDS Gene Mutation
EFL1 Gene Mutation
DNAJC21 Gene Mutation
SRP54 Gene Mutation
Inherited Cancer Syndrome
Inherited Cancer-Predisposing Syndrome
Neutropenia, Severe Chronic
Neutropenia Other
Neutropenia Chronic Benign
Ribosome Alteration
Ribosomopathy
Immune Deficiency
Inherited BMF Syndrome
Inherited Immunodeficiency Diseases
Cognitive Delay, Mild
Myelodysplastic Syndromes
Pancytopenia
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
Lead sponsor: Shwachman-Diamond Syndrome Alliance Inc
Sponsor class: OTHER
First posted: 2025-05-31
Enrollment: 8000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
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.

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.

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.

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.

Primary outcomes:
measure: Patient (or caregiver) reported symptoms over time
timeFrame: At baseline and every 12 months, prospectively.
measure: Genetics report uploaded by patient (or caregiver)
timeFrame: Through study completion when the genetics report is available.
measure: Quality of life measures via PROMIS surveys
timeFrame: Through study completion, an average of 2-4 times per year.
measure: Patient reported burden of disease and treatment outcomes
timeFrame: At baseline and every 12 months, prospectively.
Secondary outcomes:
Other outcomes:
Locations:
city: Woburn
country: United States
facility: Shwachman-Diamond Syndrome Alliance Inc.
state: Massachusetts
Study officials:
References: