Patient case: 45-year-old female with Melanoma. Genetic variant: BRAF (V600E), CDKN2A Deletion. Other conditions: None.

Clinical trial: Online Study of Individuals With Genetic Changes and Features of Autism: Simons Variation in Individuals Project (Simons VIP)

Summary: The Simons Variation in Individuals Project (VIP) is characterizing the medical, behavioral, and learning features of individuals with specific documented genetic changes associated with features of autism and developmental delay with the goal of improving clinical care and treatment for these individuals.

Detailed description: In Phase 2 (currently enrolling), the study has expanded to include more families with genetic changes by including additional genetic changes of interest and offering participation through a remote (online, phone) format. This allows English-speaking families from across the world to participate at times convenient to their schedule. Biospecimens will be collected from participants and linked to clinical data in order to understand the relationship between specific genetic changes and the brain's development.
  In Phase 1 (now closed to enrollment), the project assembled a team of experts at seven premier medical centers to collect detailed clinical information from families through in-person visits. This information has helped clinicians and families understand the relationship between specific genetic changes and the brain's development.
  Information from the project will be stripped of any personal identifying information and made available to qualified scientists around the world.
  The Simons Foundation, a New York-based private foundation, is committed to finding science-based solutions and working towards the development of targeted treatments to improve the lives of individuals with genetic and developmental differences.

Eligibility: Inclusion Criteria:
  -  Inclusion criteria will be any individual of any age with a confirmed genetic diagnosis (or has had positive genetic testing results) in any of the following genes or genomic regions:
  1. 16p11.2 deletion or duplication (del/dup) defined as equal to or larger and including the 16p11.2 susceptibility region 2. 1q21.1 deletion or duplication (del/dup) defined as equal to or larger and including the 1q21.1 susceptibility region 3. Pathogenic variant (mutation) in any of the genes specified above. This includes deletions meeting the following criteria: (i) Deletion includes all or part of a single gene listed above (ii) Deletion size is less than 2 MB (iii) Deletion includes less than or equal to 5 genes (in addition to gene of interest) with no known disease association
  -  Both biological parents are encouraged to participate. Participants must be able to speak and read English fluently.
  -  Any individual with features of autism who has had genetic testing and a known genetic diagnosis may be eligible to participate; contact the study team for more information.
  Exclusion Criteria:
  - Exclusion criteria will include individuals who do not have the CNVs or genetic variants in the genes specified about, or individuals who do not speak and read English fluently.
  Individuals who do not have a genetic variation in one of the above listed genes or regions are still encouraged to join the online community and submit a laboratory report for review. Our study may expand to include more genes if greater than five unrelated individuals with the same genetic variation register at Simons VIP Connect.

Relevance to patient case: not relevant