Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Aplasia Cutis Congenita. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Identification of Mutations That Lead to Aplasia Cutis Congenita in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms
Overview
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
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
Primary outcome measures
- Identification of genetic elements [Time frame: at time of identification]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Family-based
Study locations
United States · 1 center
- University of Connecticut Health Center — Farmington
Publications
- 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 22549580
Identifiers
NCT: NCT01630421 · UCHC03-008ACC