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Shwachman-Diamond Syndrome Global Patient Survey

This is an observational study, called the Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS), for people with Shwachman-Diamond Syndrome (SDS). It's not testing a new medicine, but rather collecting information from patients and their families worldwide through a secure online platform. The goal is to better understand SDS, improve the lives of those with the condition, and help speed up the development of new treatments and cures. You can join if you have a confirmed diagnosis of SDS, either genetic or clinical. The study will look at your reported symptoms over time, genetic reports you upload, and your quality of life using surveys. By sharing your experiences, you'll help researchers learn more about SDS and potentially find new therapies.

Study design
This is an observational study aiming to enroll 8000 participants globally. It is not a clinical trial testing an intervention, but rather a survey and collaboration program.
What's involved
You would share your reported symptoms over time, upload genetic reports if available, and complete quality of life surveys (PROMIS surveys) an average of 2-4 times per year.
Compensation
Not stated in the trial record.
Follow-up
Your reported symptoms will be measured at baseline and every 12 months. Quality of life measures will be taken through study completion, an average of 2-4 times per year.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT06999954

Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform

Recruiting
Not specifiedAll AgesObservational
Shwachman-Diamond Syndrome Alliance Inc
~8,000 participants
Updated 2025-05-31 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Patient (or caregiver) reported symptoms over time
Measured over At baseline and every 12 months, prospectively.
+3 more outcomes measured

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

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Bohring-Opitz SyndromeCongenital NeutropeniaFanconi AnemiaHematologic NeoplasmShwachman-Diamond SyndromeDNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 21ELANE GeneEPHRIN A1RUNX1 GeneSBDS GeneSIGNAL RECOGNITION PARTICLE, 54-KD

Where it's being run

1 sites across 1 states
Massachusetts1

Who to contact

Eszter Hars, Ph.D.
[email protected]
6173291838
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Eligibility criteria

Inclusion

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.

What this trial measures

  • Patient (or caregiver) reported symptoms over timeAt baseline and every 12 months, prospectively.

    Patients report symptoms via surveys, grouped by organ system.

  • Genetics report uploaded by patient (or caregiver)Through study completion when the genetics report is available.

    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.

  • Quality of life measures via PROMIS surveysThrough study completion, an average of 2-4 times per year.

    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

  • Patient reported burden of disease and treatment outcomesAt baseline and every 12 months, prospectively.

    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)