RECRUITING

Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)

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

CMD can be inherited in an autosomal dominant or recessive trait. CMD may also be caused by de novo mutations. The goal of this study is to identify genes and regulatory elements on chromosomes that are the cause for CMD. The investigators also study blood samples and tissue samples from patients to learn about the processes that lead to this disorder. The investigators long-term goal is to find mechanisms to slow down bone deposition in CMD patients.

Official Title

Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms

Quick Facts

Study Start:2009-04
Study Completion:2025-12
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT01630460

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. * CMD; unaffected individuals only if part of a participating CMD family
  1. * No CMD; unaffected individuals only as part of a participating CMD family

Contacts and Locations

Study Contact

Ernst J Reichenberger, PhD
CONTACT
860-679-2062
reichenberger@uchc.edu

Principal Investigator

Ernst J Reichenberger, PhD
PRINCIPAL_INVESTIGATOR
UConn Health

Study Locations (Sites)

University of Connecticut Health Center
Farmington, Connecticut, 06030
United States

Collaborators and Investigators

Sponsor: UConn Health

  • Ernst J Reichenberger, PhD, PRINCIPAL_INVESTIGATOR, UConn Health

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 Date2009-04
Study Completion Date2025-12

Study Record Updates

Study Start Date2009-04
Study Completion Date2025-12

Terms related to this study

Keywords Provided by Researchers

  • Craniometaphyseal dysplasia
  • bone
  • hyperostosis
  • osteoblast
  • osteoclast

Additional Relevant MeSH Terms

  • Craniometaphyseal Dysplasia