Clinical Trial: Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Identification of Mutations That Lead to Aplasia Cutis Congenita in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms

Brief Summary: The goal of this research study is to identify genes and regulatory elements on chromosomes that cause ACC. The investigators also study tissue samples from patients to learn about the processes that lead to this disorder.

Detailed Summary:

Aplasia cutis congenita (ACC) or congenital scalp defect is a very rare disorder that affects bone and skin. The definition for ACC is the localized absence of (normal) skin at the time of birth (congenital). The skin appears thinner and the underlying structures are visible. We study mostly the isolated form of ACC with the lesion often being at the vertex of the skull (at or close to the top of the skull). The bone underlying the lesion is sometimes thinner as well.

For this study we will:

  • Send out study participation kits and consent by phone
  • Collect a saliva sample from eligible individuals
  • Obtain information regarding ACC
  • Document disorder with photos and doctor's letters
  • If patients undergo surgery for ACC we ask to obtain some tissue that would otherwise be discarded
  • Isolate DNA from the saliva sample
  • Perform genetic analyses of the DNA with the most up-to-date methods available to identify genetic variations
  • Study in the laboratory why the genetic variations cause the disorder

Sponsor: UConn Health

Current Primary Outcome: Identification of genetic elements [ Time Frame: at time of identification ]

The goal is to identify relevant genes or genetic elements that cause the disease or contribute to the disease progression and severity.


Original Primary Outcome:

Current Secondary Outcome:

Original Secondary Outcome:

Information By: UConn Health

Dates:
Date Received: June 25, 2012
Date Started: April 2009
Date Completion: December 2025
Last Updated: September 8, 2016
Last Verified: September 2016