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International Pachyonychia Congenita Research Registry (IPCRR)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02321423
Recruitment Status : Recruiting
First Posted : December 22, 2014
Last Update Posted : November 21, 2018
Information provided by (Responsible Party):
Pachyonychia Congenita Project

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, optional physician notes from telephone consultation to validate questionnaire and free genetic testing.

Condition or disease
Pachyonychia Congenita

Detailed Description:


Step One: The IPCRR forms are available online at 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.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 2000 participants
Observational Model: Case-Only
Time Perspective: Cross-Sectional
Target Follow-Up Duration: 1 Year
Official Title: International Pachyonychia Congenita Research Registry
Study Start Date : April 2004
Estimated Primary Completion Date : December 2030
Estimated Study Completion Date : December 2030

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

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
All persons with PC in all countries are being invited to register. It is not known how many persons have PC although it is known to be a very rare disease.

Inclusion Criteria:

  • Clinical diagnosis of Pachyonychia Congenita or similar disorder

Exclusion Criteria:

  • N/A

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02321423

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Contact: Holly A Evans 8019878758
Contact: Janice N Schwartz 8019878758

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United States, Utah
Pachyonychia Congenita Project Recruiting
Salt Lake City, Utah, United States, 84117
Contact: Janice Schwartz    801-987-8758   
Contact: Holly Evans    8019878758   
Principal Investigator: C. David Hansen, MD         
Sponsors and Collaborators
Pachyonychia Congenita Project
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Principal Investigator: C. David Hansen, MD Pachyonychia Congenita Project

Additional Information:
Publications of Results:
Other Publications:
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Responsible Party: Pachyonychia Congenita Project Identifier: NCT02321423     History of Changes
Other Study ID Numbers: 20040468
First Posted: December 22, 2014    Key Record Dates
Last Update Posted: November 21, 2018
Last Verified: November 2018

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Pachyonychia Congenita Project:
Nail Dystrophy
Plantar Keratoderma
Palmar Keratoderma
Additional relevant MeSH terms:
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Pachyonychia Congenita
Nails, Malformed
Pathological Conditions, Anatomical
Ectodermal Dysplasia
Abnormalities, Multiple
Congenital Abnormalities
Skin Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Nail Diseases
Skin Diseases