RECRUITING

Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

The Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform Program (SDS-GPS Program)

Quick Facts

Study Start:2024-02-07
Study Completion:2088-12
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT06999954

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * 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.
  2. * 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).
  3. * 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.
  4. * Caregivers, parents, and close relatives of all patients above, including of patients alive or deceased.
  1. Pregnancy or breastfeeding
  2. Severe psychiatric disorders
  3. Active substance abuse
  4. Unstable medical conditions
  5. Inability to comply with study requirements

Contacts and Locations

Study Contact

Eszter Hars, Ph.D.
CONTACT
6173291838
ehars@sdsalliance.org
SDS-GPS Program Team
CONTACT
6173291838
gps@sdsalliance.org

Study Locations (Sites)

Shwachman-Diamond Syndrome Alliance Inc.
Woburn, Massachusetts, 01888
United States

Collaborators and Investigators

Sponsor: Shwachman-Diamond Syndrome Alliance Inc

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2024-02-07
Study Completion Date2088-12

Study Record Updates

Study Start Date2024-02-07
Study Completion Date2088-12

Terms related to this study

Keywords Provided by Researchers

  • 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

Additional Relevant MeSH Terms

  • 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