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

April 14, 2026 updated by: Ernst Reichenberger, UConn Health

Identification of Mutations That Lead to Aplasia Cutis Congenita in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms

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.

Study Overview

Status

Recruiting

Conditions

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

Study Type

Observational

Enrollment (Estimated)

600

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United States
    • Connecticut
      • Farmington, Connecticut, United States, 06030
        • Recruiting
        • University of Connecticut Health Center
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Individuals with diagnosed ACC

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Family-Based
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
affected, unaffected
Individuals with diagnosed ACC

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
at time of identification

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

UConn Health

Investigators

  • Principal Investigator: Ernst J Reichenberger, PhD, UCONN Health

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

April 1, 2009

Primary Completion (Estimated)

December 1, 2030

Study Completion (Estimated)

December 1, 2030

Study Registration Dates

First Submitted

June 25, 2012

First Submitted That Met QC Criteria

June 27, 2012

First Posted (Estimated)

June 28, 2012

Study Record Updates

Last Update Posted (Actual)

April 15, 2026

Last Update Submitted That Met QC Criteria

April 14, 2026

Last Verified

April 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • UCHC03-008ACC

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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