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
  Purpose

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.


Condition
Aplasia Cutis Congenita

Study Type: Observational
Study Design: Observational Model: Case Control
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 University of Connecticut Health Center:

Primary Outcome Measures:
  • 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.


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)
Groups/Cohorts
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
  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Individuals with diagnosed ACC

Criteria

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 ClinicalTrials.gov identifier: NCT01630421

Contacts
Contact: Ernst J Reichenberger, PhD 860-679-2062 reichenberger@uchc.edu

Locations
United States, Connecticut
University of Connecticut Health Center Recruiting
Farmington, Connecticut, United States, 06030
Contact: Ernst J Reichenberger, PhD    860-679-2062    reichenberger@uchc.edu   
Sponsors and Collaborators
University of Connecticut Health Center
Investigators
Principal Investigator: Ernst J Reichenberger, PhD University of Connecticut Health Center
  More Information

Additional Information:
Publications:
Responsible Party: Ernst Reichenberger, Assoc. Prof., University of Connecticut Health Center
ClinicalTrials.gov Identifier: NCT01630421     History of Changes
Other Study ID Numbers: UCHC03-008ACC
Study First Received: June 25, 2012
Last Updated: August 27, 2013
Health Authority: United States: Institutional Review Board

Keywords provided by University of Connecticut Health Center:
Aplasia cutis congenita
bone
osteoblast
osteoclast
skin

Additional relevant MeSH terms:
Ectodermal Dysplasia
Abnormalities, Multiple
Congenital Abnormalities
Skin Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases

ClinicalTrials.gov processed this record on September 16, 2014