Genetic analysis of congenital scalp defects
Identification of Mutations That Lead to Aplasia Cutis Congenita in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms
This study is trying to find out the genetic reasons behind Aplasia Cutis Congenita, a rare condition where babies are born without skin in certain areas, by looking at DNA from affected individuals and their families.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 600 (estimated) |
| Sex | All |
| Sponsor | UConn Health Academic / other |
| Locations | 1 site (Farmington, Connecticut) |
| Trial ID | NCT01630421 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with Aplasia Cutis Congenita and unaffected family members participating in the study.
Not a fit: Patients without Aplasia Cutis Congenita who are not part of a participating ACC family may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for Aplasia Cutis Congenita.
How similar studies have performed: While studies on genetic disorders have shown success in identifying causes, this specific approach to ACC is relatively novel.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Farmington, Connecticut
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.