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. |
ClinicalTrials.gov Identifier: NCT01630421 |
Recruitment Status :
Recruiting
First Posted : June 28, 2012
Last Update Posted : December 14, 2020
|
- Study Details
- Tabular View
- No Results Posted
- Disclaimer
- How to Read a Study Record
Condition or disease |
---|
Aplasia Cutis Congenita |
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
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 |

Group/Cohort |
---|
affected, unaffected
Individuals with diagnosed ACC
|
- 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

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.
Ages Eligible for Study: | Child, Adult, Older Adult |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
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

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 |
Principal Investigator: | Ernst J Reichenberger, PhD | UConn Health |
Publications:
Responsible Party: | Ernst Reichenberger, Assoc. Prof., UConn Health |
ClinicalTrials.gov 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 |
Aplasia cutis congenita bone osteoblast osteoclast skin |
Ectodermal Dysplasia Abnormalities, Multiple Congenital Abnormalities Skin Abnormalities |
Skin Diseases, Genetic Genetic Diseases, Inborn Skin Diseases |