RECRUITING

RASopathy Biorepository

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 RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras/mitogen activated protein kinase (MAPK) pathway. New RASopathies are being diagnosed frequently. This pathway is essential in the regulation of the cell cycle and the determination of cell function. Thus, appropriate function of this pathway is critical to normal development. Each syndrome in this group of disorders has unique phenotypic features, but there are many overlapping features including facial features, heart defects, cutaneous abnormalities, cognitive delays, and a predisposition to malignancies. This research study proposes to collect and store human bio-specimens from patients with suspected or diagnosed RASopathies. Once obtained, blood and/or tissue samples will be processed for: metabolic function studies, biomarkers, genetic studies, and/or the establishment of immortalized cell lines. In addition, data from the medical record (including neuropsychological evaluations) and surveys will be stored to create a longitudinal database for research conducted at CCHMC or at other research institutions.

Official Title

Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies.

Quick Facts

Study Start:2017-06-27
Study Completion:2065-12
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT04395495

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:Yes
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Patients with a suspected or known diagnosis of any of the group of disorders known as RASopathies (e.g., Neurofibromatosis, Costello Syndrome, Noonan Syndrome). Diagnosis may be made clinically and/or confirmed through genetic testing.
  2. * Unaffected relatives of patients with a suspected or known diagnosis of any of the group of disorders known as RASopathies.
  1. * Individuals who do not have a suspected or definite diagnosis of a RASopathy.
  2. * Individuals who do not have a relative with a suspected or definite diagnosis of a RASopathy.
  3. * Patients who do not have the ability/capacity to undergo the informed consent process OR whose parent/legal guardian is unable to undergo the informed consent process.

Contacts and Locations

Study Contact

Lindsey Aschbacher-Smith, MS
CONTACT
513-803-0077
Lindsey.Aschbacher-Smith@cchmc.org
Laurie Bailey, MS
CONTACT
513-636-4507
Laurie.Bailey@cchmc.org

Principal Investigator

Kathryn N Weaver, MD
PRINCIPAL_INVESTIGATOR
Children's Hospital Medical Center, Cincinnati

Study Locations (Sites)

Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229
United States

Collaborators and Investigators

Sponsor: Children's Hospital Medical Center, Cincinnati

  • Kathryn N Weaver, MD, PRINCIPAL_INVESTIGATOR, Children's Hospital Medical Center, Cincinnati

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 Date2017-06-27
Study Completion Date2065-12

Study Record Updates

Study Start Date2017-06-27
Study Completion Date2065-12

Terms related to this study

Additional Relevant MeSH Terms

  • RAS Mutation
  • Neurofibromatosis 1
  • Noonan Syndrome
  • Noonan Syndrome With Multiple Lentigines
  • Noonan Neurofibromatosis Syndrome
  • Cardiofaciocutaneous Syndrome
  • Costello Syndrome
  • Legius Syndrome
  • Smith-Kingsmore Syndrome
  • MTOR Gene Mutation
  • GATOR-1 Gene Mutation
  • SYNGAP1-Related Intellectual Disability
  • DLG4
  • MAPK1 Gene Mutation