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Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform

ConditionsShwachman-Diamond SyndromeSDSIBMFCongenital NeutropeniaHeme MalignancyShwachman SyndromeInherited Bone Marrow FailureExocrine Pancreatic InsufficiencyWHIMELANESBDS Gene MutationEFL1 Gene MutationDNAJC21 Gene MutationSRP54 Gene MutationInherited Cancer SyndromeInherited Cancer-Predisposing SyndromeNeutropenia, Severe ChronicNeutropenia OtherNeutropenia Chronic BenignRibosome AlterationRibosomopathyImmune DeficiencyInherited BMF SyndromeInherited Immunodeficiency DiseasesCognitive Delay, MildMyelodysplastic SyndromesPancytopenia
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorShwachman-Diamond Syndrome Alliance Inc

About this trial

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

This trial does not accept healthy volunteers

Qualifiers

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.

Disqualifiers

None

Trial 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.

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

Not listed

Trial groups

No trial groups listed

Trial outcomes

Primary outcomes

1

Patient (or caregiver) reported symptoms over time

Patients report symptoms via surveys, grouped by organ system.

Time frame
At baseline and every 12 months, prospectively.
2

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.

Time frame
Through study completion when the genetics report is available.
3

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

Time frame
Through study completion, an average of 2-4 times per year.
4

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)

Time frame
At baseline and every 12 months, prospectively.

Secondary outcomes

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Shwachman-Diamond Syndrome Alliance Inc

Lead sponsor

Source ClinicalTrials.gov
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