RASopathy Biorepository

  • STATUS
    Recruiting
  • End date
    Dec 8, 2065
  • participants needed
    1000
  • sponsor
    Children's Hospital Medical Center, Cincinnati
Updated on 8 August 2021

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.

Description

Patients who are being evaluated for a RASopathy may have overlapping features, but the disorders individually can be exceedingly rare and many are not yet well characterized. Additionally, available clinical testing is not always diagnostic in this group of patients. The investigators propose to study disorders across the RAS/MAPK pathway, identifying both commonalities and differences, under one unified ongoing research protocol. The investigators

propose
  1. To investigate the metabolic and molecular basis of established and suspected RASopathies.
  2. Collect specimens derived from blood, buccal cells, sputum, urine, bone marrow, tumor tissue and residual specimens, including but not limited to pleural fluid, ascetic fluid, chyle, skin, lung, lymphatic or renal tissue and/or bronchoalveolar lavage fluid, tissue specimens, and/or cells that are left over from clinical procedures from enrolled patients for research purposes only.
  3. Non-invasive or minimally invasive procedures to collect tissues for research purposes only, such as saliva, skin, or blood samples are also allowed. The collection of all samples from minor subjects will be done only if it is safe for the participant. Clinical studies will take precedence over research procedures.
  4. Collect demographic information, medical history, and clinical test results to create a longitudinal research database of participants with suspected or diagnosed RASopathies. Participants will also complete surveys to be included in the research database (see "Research Database" section for details).
  5. Provide a facility for long-term storage of bio-specimens and clinical data from participants with suspected or diagnosed RASopathies and their unaffected relatives.

Details
Condition Heart Defect, Congenital Heart Defect, Cardiofaciocutaneous Syndrome, von Recklinghausen's Disease, Peripheral Neuropathy, Legius Syndrome, Mammilian Target of Rapamycin (MTOR) Gene Mutation, MTOR Gene Mutation, SYNGAP1-Related Intellectual Disability, Connective Tissue Diseases, Smith-Kingsmore Syndrome, Noonan Syndrome, Congenital Heart Disease, Costello Syndrome, CONNECTIVE TISSUE DISEASE, MAPK1 Gene Mutation, RAS Mutation, DLG4, GATOR-1, Dermatomyositis (Connective Tissue Disease), GATOR-1 Gene Mutation, Age Spots (Solar Lentigines), Lentigo, Neurofibromatosis, Noonan Neurofibromatosis Syndrome
Clinical Study IdentifierNCT04395495
SponsorChildren's Hospital Medical Center, Cincinnati
Last Modified on8 August 2021

Eligibility

Yes No Not Sure

Inclusion Criteria

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
Unaffected relatives of patients with a suspected or known diagnosis of any of the group of disorders known as RASopathies

Exclusion Criteria

Individuals who do not have a suspected or definite diagnosis of a RASopathy
Individuals who do not have a relative with a suspected or definite diagnosis of a RASopathy
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
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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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