Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)

Recruiting

• Conditions: Aplasia Cutis Congenita

• Registration Number: NCT01630421
• Lead Sponsor: UConn Health

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 Description

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

Study Timeline

• Study Start: 2009-04
• Study First Submitted: 2012-06-25
• Study First Submitted QC: 2012-06-27
• Study First Posted: 2012-06-28
• Status Verified: 2024-12
• Last Update Submitted: 2024-12-06
• Last Update Posted: 2024-12-11
• Primary Completion: 2025-12
• Study Completion: 2025-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 600

Inclusion Criteria

• ACC; unaffected individuals only if part of a participating ACC family

Exclusion Criteria

• No ACC unaffected individuals only as part of a participating ACC family

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Identification of genetic elements	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.

Trial Locations

Locations (1)

University of Connecticut Health Center; 🇺🇸 Farmington, Connecticut, United States