RASopathy Biorepository

Part of paid clinical trials in Cincinnati, Ohio.

Sponsor
Children's Hospital Medical Center, Cincinnati
Study ID
NCT04395495
Status
Recruiting
Apply to this trial

Conditions

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

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Accepted

Study Details

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.

Key Dates

Start date
Jun 27, 2017
Status verified
Dec 2025
Primary completion
Dec 31, 2065
Completion
Dec 31, 2065

Study Design

Enrollment
1,000 participants (estimated)

Arms

  • Arm: Neurofibromatosis 1 (NF1)
    Individuals with a confirmed or suspected diagnosis of Neurofibromatosis Type 1 (NF1). Diagnosis may be made clinically and/or confirmed through genetic testing. Clinical (non-genetic) diagnosis requires that individuals meet the National Institute of Health's (NIH) clinical diagnostic criteria for NF1.
  • Arm: Noonan Syndrome
    Individuals with a confirmed or suspected diagnosis of Noonan Syndrome. Diagnosis may be made clinically and/or confirmed through genetic testing.
  • Arm: Noonan Syndrome with Multiple Lentigines
    Individuals with a confirmed or suspected diagnosis of Noonan Syndrome with Multiple Lentigines. Diagnosis may be made clinically and/or confirmed through genetic testing.
  • Arm: Noonan Neurofibromatosis Syndrome
    Individuals with a confirmed or suspected diagnosis of Noonan Neurofibromatosis Syndrome. Diagnosis may be made clinically and/or confirmed through genetic testing.
  • Arm: Cardiofaciocutaneous Syndrome
    Individuals with a confirmed or suspected diagnosis of Cardiofaciocutaneous Syndrome. Diagnosis may be made clinically and/or confirmed through genetic testing.
  • Arm: Costello Syndrome
    Individuals with a confirmed or suspected diagnosis of Costello Syndrome. Diagnosis may be made clinically and/or confirmed through genetic testing.
  • Arm: Legius Syndrome
    Individuals with a confirmed or suspected diagnosis of Legius Syndrome. Diagnosis may be made clinically and/or confirmed through genetic testing.
  • Arm: Smith-Kingsmore Syndrome
    Individuals with a confirmed or suspected diagnosis of Smith-Kingsmore Syndrome. Diagnosis may be made clinically and/or confirmed through genetic testing.
  • Arm: GATOR-1 Mutation
    Individuals with a suspected or known mutation of GATOR-1.
  • Arm: SYNGAP1-Related Intellectual Disability
    Individuals with a suspected or known mutation of SYNGAP1.
  • Arm: DLG4 Mutation
    Individuals with a suspected or known mutation of DLG4.
  • Arm: MAPK1 Gene Mutation
    Individuals with a suspected or known mutation of MAPK1.
  • Arm: MTOR Gene Mutation
    1. Individuals with a suspected or known mutation of a gene associated with the MTOR cellular pathway. Diagnosis may be made clinically and/or confirmed through genetic testing. 2. Unaffected relatives of individuals with a suspected or known mutation of a gene associated with the MTOR cellular pathway.
  • Arm: RAS Mutation
    1. Individuals with a suspected or known mutation of a gene associated with the RAS/MAPK cellular pathway. Diagnosis may be made clinically and/or confirmed through genetic testing. 2. Unaffected relatives of individuals with a suspected or known mutation of a gene associated with the RAS/MAPK cellular pathway.

Primary Outcome Measure

Collection of biospecimen [ Time Frame: 50 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Cincinnati Children's Hospital Medical CenterCincinnatiOhio45229
Lindsey Aschbacher-Smith, MS
[email protected]
513.803.0077
Laurie Bailey, MS
[email protected]
(513) 636-4507
Carlos E Prada, MD (PRINCIPAL_INVESTIGATOR)

Find similar trials in Cincinnati, OH

By research site
Cincinnati Children's Hospital Medical Center· Cincinnati, OH

Related Studies