Recruiting

Genetic Analysis

Sponsor:

UConn Health

Code:

NCT01630421

Conditions

Aplasia Cutis Congenita

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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.

Conditions

Aplasia Cutis Congenita

Study ID

NCT01630421

Start date

Apr, 2009

Status verified date

Apr, 2026

Completion date

Dec, 2030

Anticipated

Primary completion date

Dec, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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 Design

Enrollment

600 participants

Anticipated

Interventions and Outcome Measures

Arms

affected, unaffected

Individuals with diagnosed ACC

Primary outcome measure

  • Identification of genetic elements [ Time Frame: at time of identification ]

Central Contacts and Locations

Central contacts

Ernst J Reichenberger, PhD

860-679-2062reichenberger@uchc.edu

Locations

University of Connecticut Health Center

Recruiting

Farmington, Connecticut, United States, 06030

Contacts

Ernst J Reichenberger, PhD

860-679-2062reichenberger@uchc.edu

More Information

Sponsor

UConn Health

Last update posted

Apr 15, 2026

Last verified

Apr, 2026

Keywords

  • Aplasia cutis congenita
  • bone
  • osteoblast
  • osteoclast
  • skin

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by UConn Health on 2026-04-15.