NCT01630421

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
600

participants targeted

Target at P75+ for all trials

Timeline
56mo left

Started Apr 2009

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress79%
Apr 2009Dec 2030

Study Start

First participant enrolled

April 1, 2009

Completed
3.2 years until next milestone

First Submitted

Initial submission to the registry

June 25, 2012

Completed
3 days until next milestone

First Posted

Study publicly available on registry

June 28, 2012

Completed
18.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2030

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2030

Last Updated

April 15, 2026

Status Verified

April 1, 2026

Enrollment Period

21.7 years

First QC Date

June 25, 2012

Last Update Submit

April 14, 2026

Conditions

Aplasia Cutis Congenita

Keywords

Aplasia cutis congenitaboneosteoblastosteoclastskin

Outcome Measures

Primary Outcomes (1)

  • Identification of genetic elements

    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

Study Arms (1)

affected, unaffected

Individuals with diagnosed ACC

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Individuals with diagnosed ACC

You may qualify if:

  • ACC; unaffected individuals only if part of a participating ACC family

You may not qualify if:

  • No ACC unaffected individuals only as part of a participating ACC family

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University of Connecticut Health Center

Farmington, Connecticut, 06030, United States

RECRUITING

Related Publications (1)

  • Levine SM, Reformat DD, Thorne CH. Cutis aplasia: perioperative management and case report. Am J Crit Care. 2012 May;21(3):212-5. doi: 10.4037/ajcc2012904.

    PMID: 22549580BACKGROUND

Related Links

Biospecimen

Retention: SAMPLES WITH DNA

Saliva, blood, bone tissue, skin

MeSH Terms

Conditions

Ectodermal Dysplasia

Condition Hierarchy (Ancestors)

Abnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin AbnormalitiesSkin Diseases, GeneticGenetic Diseases, InbornSkin DiseasesSkin and Connective Tissue Diseases

Study Officials

  • Ernst J Reichenberger, PhD

    UConn Health

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Ernst J Reichenberger, PhD

CONTACT

860-679-2062reichenberger@uchc.edu

Study Design

Study Type
observational
Observational Model
FAMILY BASED
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Assoc. Prof.

Study Record Dates

First Submitted

June 25, 2012

First Posted

June 28, 2012

Study Start

April 1, 2009

Primary Completion (Estimated)

December 1, 2030

Study Completion (Estimated)

December 1, 2030

Last Updated

April 15, 2026

Record last verified: 2026-04

Locations

US(1)