Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2013 by University of Connecticut Health Center
Sponsor:
Information provided by (Responsible Party):
Ernst Reichenberger, University of Connecticut Health Center
ClinicalTrials.gov Identifier:
NCT01630421
First received: June 25, 2012
Last updated: August 27, 2013
Last verified: August 2013

June 25, 2012
August 27, 2013
April 2009
December 2025   (final data collection date for primary outcome measure)
Identification of genetic elements [ Time Frame: at time of identification ] [ Designated as safety issue: No ]
The goal is to identify relevant genes or genetic elements that cause the disease or contribute to the disease progression and severity.
Not Provided
Complete list of historical versions of study NCT01630421 on ClinicalTrials.gov Archive Site
Not Provided
Not Provided
Not Provided
Not Provided
 
Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)
Identification of Mutations That Lead to Aplasia Cutis Congenita in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms

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.

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
Observational
Observational Model: Case Control
Time Perspective: Prospective
Not Provided
Retention:   Samples With DNA
Description:

Saliva, blood, bone tissue, skin

Non-Probability Sample

Individuals with diagnosed ACC

Aplasia Cutis Congenita
Not Provided
affected, unaffected
Individuals with diagnosed ACC
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.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
600
December 2025
December 2025   (final data collection date for primary outcome measure)

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
Both
Not Provided
No
Contact: Ernst J Reichenberger, PhD 860-679-2062 reichenberger@uchc.edu
United States
 
NCT01630421
UCHC03-008ACC
No
Ernst Reichenberger, University of Connecticut Health Center
University of Connecticut Health Center
Not Provided
Principal Investigator: Ernst J Reichenberger, PhD University of Connecticut Health Center
University of Connecticut Health Center
August 2013

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP