Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)

Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorUConn Health

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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

Disqualifiers

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

Trial population

Individuals with diagnosed ACC

Trial design

Design model

Family-based

Time perspective

Prospective

Treatments tested in this trial

Not listed

Trial groups

600 Participants
are grouped into 1 trial group
Group A: affected, unaffected

Trial outcomes

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.

Time frame
at time of identification

Secondary outcomes

Other outcomes

Sponsors and contacts

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