Genetic analysis of congenital scalp defects

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This research focuses on identifying the genetic causes of Aplasia Cutis Congenita (ACC), a rare disorder characterized by the absence of skin at birth. The study involves collecting saliva samples from affected individuals and their families, as well as tissue samples from surgeries when available. Researchers will analyze the DNA to uncover genetic variations and understand the biological processes leading to ACC. The study aims to document the disorder through photographs and medical documentation.

Why it matters

Who can join: the full rules

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

Where it's running

• University of Connecticut Health Center
  Farmington, Connecticut, United States Recruiting

Study contacts

• Principal investigator: Ernst J Reichenberger, PhD — UConn Health
• Study coordinator: Ernst J Reichenberger, PhD
• Email: reichenberger@uchc.edu
• Phone: 860-679-2062

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.