Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)

Aplasia Cutis Congenita Clinical Trial

— ACC  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT01630421
• Other study ID #: UCHC03-008ACC
• Status: Recruiting
• Start date: April 2009
• Est. completion date: December 2025

Study information

• Verified date: September 2023
• Source: UConn Health
• Contact: Ernst J Reichenberger, PhD
• Phone: 860-679-2062
• Email: reichenberger[@]uchc.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 600
• Est. completion date: December 2025
• Est. primary completion date: December 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Aplasia Cutis Congenita
• Ectodermal Dysplasia

Locations

Country	Name	City	State
United States	University of Connecticut Health Center	Farmington	Connecticut

Sponsors (1)

Lead Sponsor	Collaborator
UConn Health

Country where clinical trial is conducted

United States, 

References & Publications (1)

Levine SM, Reformat DD, Thorne CH. Cutis aplasia: perioperative management and case report. Am J Crit Care. 2012 May;21(3):212-5. doi: 10.4037/ajcc2012904. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identification of genetic elements	The goal is to identify relevant genes or genetic elements that cause the disease or contribute to the disease progression and severity.	at time of identification

External Links

•   Brief description
•   Reichenberger lab research information