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Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC) (ACC)

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2016 by UConn Health
Information provided by (Responsible Party):
Ernst Reichenberger, University of Connecticut Health Center Identifier:
First received: June 25, 2012
Last updated: September 8, 2016
Last verified: September 2016

June 25, 2012
September 8, 2016
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.
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Complete list of historical versions of study NCT01630421 on Archive Site
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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 Model: Family-Based
Time Perspective: Prospective
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Retention:   Samples With DNA
Saliva, blood, bone tissue, skin
Non-Probability Sample
Individuals with diagnosed ACC
Aplasia Cutis Congenita
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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 Identifier (NCT Number) in Medline.
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
Child, Adult, Senior
Contact: Ernst J Reichenberger, PhD 860-679-2062
United States
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Ernst Reichenberger, University of Connecticut Health Center
UConn Health
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Principal Investigator: Ernst J Reichenberger, PhD UConn Health
UConn Health
September 2016

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