RASopathy Associated Traits California (RasCal) Study

Summary

Study Director: Lauren A. Weiss, PhD

Sponsor: NIH

Recruiting?: Yes

Official study title: RASopathy Associated Traits California (RasCal) study

Conditions studied: RASopathies (a class of developmental syndromes caused by mutations in genes that encode protein components of the Ras/MAPK signaling pathway, such as neurofibromatosis, Costello syndrome, cardio-facio-cutaneous syndrome, and Noonan syndrome)

Purpose: We want to understand why some RASopathy associated features are different among affected people. In order to study this, we will collect genetic information on RASopathy subjects and their family members. We will use this information to determine if there is a change at genetic locations other than the disease genes that may interact with a Ras-MAPK pathway mutation to contribute to the different risk that we see among subjects for developmental problems, cancer risk, muscle strength, and other features.

Eligibility

We are looking for families with someone affected by neurofibromatosis, Costello syndrome, cardio-facio-cutaneous syndrome, or Noonan syndrome. The affected person, both biological parents, and a healthy sibling can participate.

Inclusion criteria: neurofibromatosis type 1, Costello syndrome, cardio-facio-cutaneous syndrome, or Noonan syndrome. The affected person, as well as both biological parents and a healthy sibling, can participate, all ages

Exclusion criteria: Non-English speakers

What is Involved?

Testing: Saliva samples from all family members participating. Social behavior questionnaires to be filled out about the affected person and optionally for a healthy sibling.

Frequency of visits: 1 visit to the UCSF Parnassus campus is optional, we can also collect the saliva and questionnaire data via mail.

Materials needed prior to evaluation: None

Costs: No costs will be charged for any of the study procedures. Parking will be validated at UCSF.

Contact Information

Coordinator: Dina Bseiso – [email protected], (415) 476-6988