International Pachyonychia Congenita Research Registry
Purpose
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, optional physician notes from telephone consultation to validate questionnaire and free genetic testing.
Condition
- Pachyonychia Congenita
Eligibility
- Eligible Ages
- All ages
- Eligible Sex
- All
- Accepts Healthy Volunteers
- Yes
Inclusion Criteria
- Clinical diagnosis of Pachyonychia Congenita or similar disorder
Exclusion Criteria
- N/A
Study Design
- Phase
- Study Type
- Observational [Patient Registry]
- Observational Model
- Case-Only
- Time Perspective
- Cross-Sectional
Recruiting Locations
Salt Lake City, Utah 84117
More Details
- NCT ID
- NCT02321423
- Status
- Recruiting
- Sponsor
- Pachyonychia Congenita Project
Detailed Description
HOW TO PARTICIPATE IN IPCRR Step One: The IPCRR forms are available online at http://www.pachyonychia.org/patient-registry/. The Consent Form protects your privacy and the Questionnaire gathers important details that distinguish PC from other conditions and helps to identify specific characteristics of each type of PC. You may stop and start as often as needed before completing the forms. If you are not certain about an answer, you may skip that question. 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. Photos of your PC are very important. Note: If you do not have access to a computer and wish to have the IPCRR forms mailed, please contact PC Project. Step Three: When your Consent Form, Questionnaire, and Photos are received by PC Project, we will have an intake call with you to review your information and to discuss the next steps. Step Four: If referred for genetic testing, you will then be sent the special saliva test kit (no travel required). Usually, only saliva is needed and from only one family member. The sample is collected by spitting into the vial in the kit and then 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 your sample arrives. When the confirming results are received, a full genetic testing report is provided to you with precise information and suggestions specific to your condition. You may find the report very valuable with physicians or other medical providers as well as for school personnel, employers, disability hearings, or other special needs. All information is held confidentially by PC Project and the research is reported anonymously. There is no cost to you for any of these tests or assistance from PC Project. You may also request additional consultations as needed.