RECRUITING

Shwachman Diamond Syndrome Registry and Study

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

Shwachman-Diamond syndrome (SDS) is a genetic condition characterized by bone marrow failure, medical co-morbidities, and leukemia predisposition. SDS-Like patients share clinical features with SDS but lack mutations in known SDS genes. Since SDS/SDS-Like syndromes are rare diseases, data are sparse regarding the clinical features, natural history, clinical outcomes with current management, and treatment. For this reason, the SDS Registry was formed to collect clinical data from medical records and to bank biological samples with the goal of understanding SDS/SDS-Like diseases to develop better treatments and improve the health of patients with these conditions.

Official Title

Shwachman Diamond Syndrome Registry and Study (SDS Registry)

Quick Facts

Study Start:2016-01-19
Study Completion:2090-01-01
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT06056908

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:Not specified
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Biallelic mutations in SBDS, or pathogenic mutations in DNAJC21, EFL1, or SRP54 OR
  2. * Shwachman-Diamond Syndrome defined clinically OR
  3. * Clinically suspected Shwachman-Diamond Syndrome OR
  4. * Phenotypic features suggestive of SDS OR
  5. * Parents, siblings, and other blood relatives of any age, living and deceased, of patients with SDS or SDS-Like conditions are eligible for this study
  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

Akiko Shimamura, MD, PhD
CONTACT
akiko.shimamura@childrens.harvard.edu
Karyn Brundige
CONTACT
sdsregistry-dl@childrens.harvard.edu

Study Locations (Sites)

Children's Hospital Colorado
Aurora, Colorado, 80045
United States
Boston Children's Hospital
Boston, Massachusetts, 02115
United States
Dana-Farber Cancer Institute
Boston, Massachusetts, 02115
United States
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229
United States

Collaborators and Investigators

Sponsor: Boston Children's Hospital

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 Date2016-01-19
Study Completion Date2090-01-01

Study Record Updates

Study Start Date2016-01-19
Study Completion Date2090-01-01

Terms related to this study

Keywords Provided by Researchers

  • Bone marrow failure
  • Inherited bone marrow failure syndromes
  • Bone marrow
  • Neutropenia
  • Leukemia
  • MDS
  • Pancreas
  • Cancer predisposition

Additional Relevant MeSH Terms

  • Shwachman-Diamond Syndrome
  • Shwachman-Diamond Syndrome-Like