Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform

NCT06999954 | Recruiting

• 1 other identifier: NB300118
• Study Type: observational
• Target: 8,000
• Locations: 1 country
• Sites: 1

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.

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

Outcome Measures

Primary Outcomes (4)

• Patient (or caregiver) reported symptoms over time

  Patients report symptoms via surveys, grouped by organ system.

  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.

  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

  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)

  At baseline and every 12 months, prospectively.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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).
• Caregivers, parents, and close relatives of all patients above, including of patients alive or deceased.

You may not qualify if:

• ● People who do not meet the above criteria.

Sponsors & Collaborators

• Shwachman-Diamond Syndrome Alliance Inc: lead

Study Sites (1)

Shwachman-Diamond Syndrome Alliance Inc.

Woburn, Massachusetts, 01888, United States

RECRUITING

Related Links

• General information page for participants, including frequently asked questions and answers.

MeSH Terms

Conditions

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; Lymphoma, Follicular; Myelodysplastic Syndromes; Pancytopenia

Condition Hierarchy (Ancestors)

Pancreatic Diseases; Digestive System Diseases; Bone Marrow Failure Disorders; Bone Marrow Diseases; Hematologic Diseases; Hemic and Lymphatic Diseases; Lipid Metabolism, Inborn Errors; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipomatosis; Neoplasms; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Infant, Newborn, Diseases; Lymphoma, Non-Hodgkin; Lymphoma; Neoplasms by Histologic Type; Lymphoproliferative Disorders; Lymphatic Diseases; Immunoproliferative Disorders; Cytopenia

Central Study Contacts

Eszter Hars, Ph.D.

CONTACT

6173291838; ehars@sdsalliance.org

SDS-GPS Program Team

CONTACT

6173291838; gps@sdsalliance.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 120 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 20, 2024
• First Posted: May 31, 2025
• Study Start: February 7, 2024
• Primary Completion (Estimated): December 1, 2088
• Study Completion (Estimated): December 1, 2088
• Last Updated: May 31, 2025

Record last verified: 2025-05

Locations

US (1)