Trial record 23 of 31 for:    "ankyloblepharon-ectodermal defects-cleft lip palate syndrome" OR "Ectodermal Dysplasias"

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 : September 16, 2016
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, physician notes from telephone consultation to validate questionnaire, free genetic testing.

Condition or disease
Pachyonychia Congenita

Detailed Description:


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 mouth swab kit will be sent for the testing. This requires simply swabbing the inside of the cheek with a soft brush from the kit and mailing to the laboratory.

When the results are finalized, a full genetic testing report is provided to the patient with precise information and suggestions specific to their condition. Patients 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 confidential by PC Project and the research reported anonymously. There is no cost to the patient/family for any of these tests or for the consultation.

Study Type : Observational [Patient Registry]
Estimated Enrollment : 1800 participants
Observational Model: Case-Only
Time Perspective: Cross-Sectional
Target Follow-Up Duration: 1 Year
Study Start Date : April 2004
Estimated Primary Completion Date : December 2058

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

Information from the National Library of Medicine

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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 it is a very rare disease.

Inclusion Criteria:

  • Clinical diagnosis of Pachyonychia Congenita or similar disorder

Exclusion Criteria:

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

Contact: Holly A Evans 8014016300
Contact: Cindy B Atha 8014016300

United States, Utah
Pachyonychia Congenita Project Recruiting
Salt Lake City, Utah, United States, 84109
Contact: Mary Schwartz    801-401-6300   
Contact: Holly Evans    8014016300   
Principal Investigator: Mary E Schwartz         
Sponsors and Collaborators
Pachyonychia Congenita Project
Principal Investigator: Mary E Schwartz Pachyonychia Congenita Project

Additional Information:
Publications of Results:
Other Publications:
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: September 16, 2016
Last Verified: September 2016

Keywords provided by Pachyonychia Congenita Project:
Nail Dystrophy
Plantar Keratoderma
Palmar Keratoderma

Additional relevant MeSH terms:
Nails, Malformed
Pachyonychia Congenita
Pathological Conditions, Anatomical
Ectodermal Dysplasia
Skin Abnormalities
Congenital Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Nail Diseases
Skin Diseases