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Trial record 1 of 1 for:    "nonsyndromic aplasia cutis congenita" OR "aplasia cutis congenita"
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Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC) (ACC)

This study is currently recruiting participants.
Verified October 2017 by Ernst Reichenberger, UConn Health
ClinicalTrials.gov Identifier:
First Posted: June 28, 2012
Last Update Posted: October 26, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Information provided by (Responsible Party):
Ernst Reichenberger, UConn Health
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 Ernst Reichenberger, 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

Information from the National Library of Medicine

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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
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01630421

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

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
UConn Health
Principal Investigator: Ernst J Reichenberger, PhD UConn Health
  More Information

Additional Information:
Responsible Party: Ernst Reichenberger, Assoc. Prof., UConn Health
ClinicalTrials.gov Identifier: NCT01630421     History of Changes
Other Study ID Numbers: UCHC03-008ACC
First Submitted: June 25, 2012
First Posted: June 28, 2012
Last Update Posted: October 26, 2017
Last Verified: October 2017

Keywords provided by Ernst Reichenberger, 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