International Pachyonychia Congenita Research Registry

NCT ID: NCT02321423

Last Updated: 2018-11-21

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

2000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2004-04-30

Study Completion Date

2030-12-31

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Pachyonychia Congenita

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

CROSS_SECTIONAL

Eligibility Criteria

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Inclusion Criteria

* Clinical diagnosis of Pachyonychia Congenita or similar disorder

Exclusion Criteria

* N/A
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Pachyonychia Congenita Project

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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C. David Hansen, MD

Role: PRINCIPAL_INVESTIGATOR

Pachyonychia Congenita Project

Locations

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Pachyonychia Congenita Project

Salt Lake City, Utah, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Holly A Evans

Role: CONTACT

8019878758

Janice N Schwartz

Role: CONTACT

8019878758

Facility Contacts

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Janice Schwartz

Role: primary

801-987-8758

Holly Evans

Role: backup

8019878758

References

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Wilson NJ, O'Toole EA, Milstone LM, Hansen CD, Shepherd AA, Al-Asadi E, Schwartz ME, McLean WH, Sprecher E, Smith FJ. The molecular genetic analysis of the expanding pachyonychia congenita case collection. Br J Dermatol. 2014 Aug;171(2):343-55. doi: 10.1111/bjd.12958. Epub 2014 Aug 6.

Reference Type BACKGROUND
PMID: 24611874 (View on PubMed)

Shah S, Boen M, Kenner-Bell B, Schwartz M, Rademaker A, Paller AS. Pachyonychia congenita in pediatric patients: natural history, features, and impact. JAMA Dermatol. 2014 Feb;150(2):146-53. doi: 10.1001/jamadermatol.2013.6448.

Reference Type BACKGROUND
PMID: 24132595 (View on PubMed)

McLean WH, Hansen CD, Eliason MJ, Smith FJ. The phenotypic and molecular genetic features of pachyonychia congenita. J Invest Dermatol. 2011 May;131(5):1015-7. doi: 10.1038/jid.2011.59. Epub 2011 Mar 24.

Reference Type RESULT
PMID: 21430705 (View on PubMed)

Eliason MJ, Leachman SA, Feng BJ, Schwartz ME, Hansen CD. A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. J Am Acad Dermatol. 2012 Oct;67(4):680-6. doi: 10.1016/j.jaad.2011.12.009. Epub 2012 Jan 20.

Reference Type RESULT
PMID: 22264670 (View on PubMed)

Related Links

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http://www.pachyonychia.org

Pachyonychia Congenita Project Website

http://www.pachyonychia.org/patient-registry/

Link to IPCRR information and forms

http://www.pachyonychia.org/pc-data/

Link to data/graphs from IPCRR

http://www.pachyonychia.org/research-articles/

Link to Published Research Articles on PC

Other Identifiers

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20040468

Identifier Type: -

Identifier Source: org_study_id

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