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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
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

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Identification of Mutations That Lead to Aplasia Cutis Congenita in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms

Resource links provided by NLM:

Further study details as provided by UConn Health:

Primary Outcome Measures:
  • 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.

Biospecimen Retention:   Samples With DNA
Saliva, blood, bone tissue, skin

Estimated Enrollment: 600
Study Start Date: April 2009
Estimated Study Completion Date: December 2025
Estimated Primary Completion Date: December 2025 (Final data collection date for primary outcome measure)
affected, unaffected
Individuals with diagnosed ACC

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

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals with diagnosed ACC

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01630421

Contact: Ernst J Reichenberger, PhD 860-679-2062

United States, Connecticut
University of Connecticut Health Center Recruiting
Farmington, Connecticut, United States, 06030
Contact: Ernst J Reichenberger, PhD    860-679-2062   
Sponsors and Collaborators
UConn Health
Principal Investigator: Ernst J Reichenberger, PhD UConn Health
  More Information

Additional Information:
Responsible Party: Ernst Reichenberger, Assoc. Prof., University of Connecticut Health Center Identifier: NCT01630421     History of Changes
Other Study ID Numbers: UCHC03-008ACC
Study First Received: June 25, 2012
Last Updated: September 8, 2016

Keywords provided by UConn Health:
Aplasia cutis congenita

Additional relevant MeSH terms:
Ectodermal Dysplasia
Abnormalities, Multiple
Congenital Abnormalities
Skin Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases processed this record on May 24, 2017