NCT02321423

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
2,000

participants targeted

Target at P75+ for all trials

Timeline
56mo left

Started Apr 2004

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress83%
Apr 2004Dec 2030

Study Start

First participant enrolled

April 1, 2004

Completed
10.7 years until next milestone

First Submitted

Initial submission to the registry

December 12, 2014

Completed
10 days until next milestone

First Posted

Study publicly available on registry

December 22, 2014

Completed
16 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2030

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2030

Last Updated

November 21, 2018

Status Verified

November 1, 2018

Enrollment Period

26.7 years

First QC Date

December 12, 2014

Last Update Submit

November 19, 2018

Conditions

Keywords

Nail DystrophyPlantar KeratodermaPalmar KeratodermaLeukokeratosisCystsPainKRT17KRT16KRT6AKRT6BKRT6C

Outcome Measures

Primary Outcomes (1)

  • Describing patterns and traits of Pachyonychia Congenita

    Once a year

Eligibility Criteria

Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-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.

You may qualify if:

  • Clinical diagnosis of Pachyonychia Congenita or similar disorder

You may not qualify if:

  • N/A

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Pachyonychia Congenita Project

Salt Lake City, Utah, 84117, United States

RECRUITING

Related Publications (4)

  • 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.

    PMID: 24611874BACKGROUND
  • 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.

    PMID: 24132595BACKGROUND
  • 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.

  • 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.

Related Links

MeSH Terms

Conditions

Pachyonychia CongenitaLeukoplakiaCystsPain

Condition Hierarchy (Ancestors)

Ectodermal DysplasiaAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin AbnormalitiesSkin Diseases, GeneticGenetic Diseases, InbornNail DiseasesSkin DiseasesSkin and Connective Tissue DiseasesPrecancerous ConditionsNeoplasmsPathological Conditions, AnatomicalPathological Conditions, Signs and SymptomsNeurologic ManifestationsSigns and Symptoms

Study Officials

  • C. David Hansen, MD

    Pachyonychia Congenita Project

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
CROSS SECTIONAL
Target Duration
1 Year
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

December 12, 2014

First Posted

December 22, 2014

Study Start

April 1, 2004

Primary Completion (Estimated)

December 1, 2030

Study Completion (Estimated)

December 1, 2030

Last Updated

November 21, 2018

Record last verified: 2018-11

Locations