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

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. Identifier: NCT01630421
Recruitment Status : Recruiting
First Posted : June 28, 2012
Last Update Posted : December 14, 2020
Information provided by (Responsible Party):
Ernst Reichenberger, UConn Health

Brief Summary:
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 or disease
Aplasia Cutis Congenita

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

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Study Type : Observational
Estimated Enrollment : 600 participants
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
Study Start Date : April 2009
Estimated Primary Completion Date : December 2025
Estimated Study Completion Date : December 2025

affected, unaffected
Individuals with diagnosed ACC

Primary Outcome Measures :
  1. 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

Information from the National Library of Medicine

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, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
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

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 identifier (NCT number): NCT01630421

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

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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
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Principal Investigator: Ernst J Reichenberger, PhD UConn Health
Additional Information:
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Responsible Party: Ernst Reichenberger, Assoc. Prof., UConn Health Identifier: NCT01630421    
Other Study ID Numbers: UCHC03-008ACC
First Posted: June 28, 2012    Key Record Dates
Last Update Posted: December 14, 2020
Last Verified: December 2020
Keywords provided by Ernst Reichenberger, UConn Health:
Aplasia cutis congenita
Additional relevant MeSH terms:
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Ectodermal Dysplasia
Abnormalities, Multiple
Congenital Abnormalities
Skin Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases