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RASopathy Biorepository

NCT04395495 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 1000

Last updated 2025-12-18

No results posted yet for this study

Summary

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.

Conditions

  • 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

Sponsors & Collaborators

  • Children's Hospital Medical Center, Cincinnati

    lead OTHER

Principal Investigators

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

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2017-06-27
Primary Completion
2065-12-31
Completion
2065-12-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04395495 on ClinicalTrials.gov