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Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)

Sponsor
UConn Health (Other)
Overall Status
Recruiting
CT.gov ID
NCT01630421
Collaborator
(none)
600
Enrollment
1
Location
200
Duration (Months)
3
Patients Per Site Per Month

Study Details

Study Description

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 Intervention/Treatment Phase

    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 Design

    Study Type:
    Observational
    Anticipated 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 :
    Apr 1, 2009
    Anticipated Primary Completion Date :
    Dec 1, 2025
    Anticipated Study Completion Date :
    Dec 1, 2025

    Arms and Interventions

    Arm Intervention/Treatment
    affected, unaffected

    Individuals with diagnosed ACC

    Outcome Measures

    Primary Outcome Measures

    1. Identification of genetic elements [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.

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    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

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 University of Connecticut Health Center Farmington Connecticut United States 06030

    Sponsors and Collaborators

    • UConn Health

    Investigators

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

    Study Documents (Full-Text)

    None provided.

    More Information

    Additional Information:

    Publications

    Responsible Party:
    Ernst Reichenberger, Assoc. Prof., UConn Health
    ClinicalTrials.gov Identifier:
    NCT01630421
    Other Study ID Numbers:
    • UCHC03-008ACC
    First Posted:
    Jun 28, 2012
    Last Update Posted:
    Jan 25, 2022
    Last Verified:
    Jan 1, 2022
    Keywords provided by Ernst Reichenberger, Assoc. Prof., UConn Health
    Aplasia cutis congenita
    bone
    osteoblast
    osteoclast
    skin
    Additional relevant MeSH terms:
    Ectodermal Dysplasia

    Study Results

    No Results Posted as of Jan 25, 2022