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Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)

NCT ID: NCT01630421

Last Updated: 2024-12-11

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

600 participants

Study Classification

OBSERVATIONAL

Study Start Date

2009-04-30

Study Completion Date

2025-12-31

Brief Summary

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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.

Detailed Description

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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

Conditions

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Aplasia Cutis Congenita

Keywords

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Aplasia cutis congenita bone osteoblast osteoclast skin

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

Study Groups

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affected, unaffected

Individuals with diagnosed ACC

No interventions assigned to this group

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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UConn Health

OTHER

Sponsor Role lead

Responsible Party

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Ernst Reichenberger

Assoc. Prof.

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Ernst J Reichenberger, PhD

Role: PRINCIPAL_INVESTIGATOR

UConn Health

Locations

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University of Connecticut Health Center

Farmington, Connecticut, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Ernst J Reichenberger, PhD

Role: CONTACT

Phone: 860-679-2062

Email: [email protected]

Facility Contacts

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Ernst J Reichenberger, PhD

Role: primary

References

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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.

Reference Type BACKGROUND
PMID: 22549580 (View on PubMed)

Related Links

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http://omim.org/entry/107600

Brief description

https://health.uconn.edu/reichenberger-lab/

Reichenberger lab research information

Other Identifiers

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UCHC03-008ACC

Identifier Type: -

Identifier Source: org_study_id