Scientists hunt for genes behind rare skin condition

NCT ID NCT01630421

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study aims to find the genes and genetic changes that cause aplasia cutis congenita (ACC), a rare condition where babies are born with missing patches of skin. Researchers will analyze DNA from 600 people with ACC and their family members. The goal is to better understand the disease, which could lead to improved diagnosis and future treatments.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to

If successful, this study could identify the genetic causes of ACC, paving the way for future diagnostic tests or treatments.

What could go wrong

This is an observational study, not a treatment trial. It may not directly lead to a therapy, and results may take years to translate into clinical use.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

aplasia cutis congenita ectodermal dysplasia syndrome

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • University of Connecticut Health Center

    RECRUITING

    Farmington, Connecticut, 06030, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••