International Pachyonychia Congenita Research Registry
| Status: | Recruiting |
|---|---|
| Healthy: | No |
| Age Range: | Any |
| Updated: | 11/23/2018 |
| Start Date: | April 2004 |
| End Date: | December 2030 |
| Contact: | Holly A Evans |
| Email: | holly.evans@pachyonychia.org |
| Phone: | 8019878758 |
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.
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.
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.
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.
Inclusion Criteria:
- Clinical diagnosis of Pachyonychia Congenita or similar disorder
Exclusion Criteria:
We found this trial at
1
site
Salt Lake City, Utah 84109
Principal Investigator: C. David Hansen, MD
Phone: 801-987-8758
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