Clinical Trial: International Pachyonychia Congenita Research Registry

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient Registry]

Official Title:

Brief Summary: International Pachyonychia Congenita Research Registry (IPCRR) is a patient registry for those suffering from Pachyonychia Congenita (PC). PC is an ultra-rare extremely painful skin disorder that causes painful blisters and callus on feet and sometimes hands, thickened nails, cysts and other features. The IPCRR consists of a questionnaire, patient photos, physician notes from telephone consultation to validate questionnaire, free genetic testing.

Detailed Summary:

HOW TO PARTICIPATE IN IPCRR

Step One. Complete the IPCRR forms which are now available online. The Consent Form protects the patient's privacy. The Questionnaire gathers important details that distinguish PC from other conditions and helps to identify specific characteristics of each type of PC.

Step Two. Take photos as shown in the Questionnaire sample photo page. You can upload the images online with the Questionnaire. If you prefer, you may email the photos. You may stop and start as often as needed before completing the forms. Since the physicians will not meet you in person, the photos of your PC are very important.

Step Three. When the Consent Form, Questionnaire and Photos are received by PC Project, a telephone consultation will be scheduled with one of the PC physicians. The physician will review the photos and questionnaire responses, and will discuss any questions. There is no cost to patient/family for this consultation.

Step Four. If genetic testing is requested, the physician will discuss it on the call and will make the referral for free testing. The patient will then be sent the special saliva test kit (no travel required). Usually only saliva is needed and from only one affected family member. The sample is collected by spitting into the vial in the kit and mailing it in the envelope provided. Genetic testing is complex and time-consuming. It is not like a sugar test or pregnancy test and can take many months to be completed, but the testing begins as soon as the sample arrives.

In some cases, a second test must be completed before the testing results are finalized and a report can be sent. If the second test is needed, the family will be advised and a simple
Sponsor: Pachyonychia Congenita Project

Current Primary Outcome: Describing patterns and traits of Pachyonychia Congenita [ Time Frame: Once a year ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Pachyonychia Congenita Project

Dates:
Date Received: December 12, 2014
Date Started: April 2004
Date Completion:
Last Updated: September 14, 2016
Last Verified: September 2016