If you have a patient with clinical signs of Pachyonychia Congenita or painful plantar keratoderma, we are here to help.
PC Project accepts patient referrals through a well-governed process that allows our experienced Genetics Team to review your cases and if needed, offer participation in our diagnostic International Pachyonychia Congenita Research Registry (IPCRR or Patient Registry). The registry process includes genetic testing, case reviews by our Genetics Team, and support for you and your patients to better manage their condition. All PC Project’s support services are provided for free to registry participants.
Our PC Genetics Team of Experts
Why refer your patient to PC Project?
- You will help your patient potentially receive a correct, life-changing genetically confirmed diagnosis. Having a name for their disease is powerful, and with the advancement of precision drug development knowing the disease-causing mutation is more important than ever.
- You will be able to collaborate with the professionals at PC Project to give your patient the best care possible, depending on their specific pathogenic mutation.
- You will connect your patient to a global, supportive patient community. Patients with rare skin disease often live in isolation and connecting them with others, including caregivers, who understand exactly what they’re dealing with can help them cope with the social, emotional, and physical burdens of living with these painful diseases.
- When you connect patients to the PC Project, you allow them to be notified directly about the latest in PC and PPK research and clinical studies.
Giving your patients a correct diagnosis and connecting them to our supportive, encouraging community will give them the tools to not only manage their condition but successfully navigate life with a rare, painful skin disease.
If you have a patient with suspected PC or painful keratoderma and you want us to review their case, please fill out the Refer a Patient Form.
If your patient has clinical signs of PC or painful keratoderma, you can directly have them complete the IPCRR patient registry forms and send photos.
WHAT HAPPENS WHEN YOU REFER A PATIENT FOR CASE REVIEW
If needed, PC Project will then contact you to gather additional details about the case including photos, where required.
The case will then be reviewed by our PC Genetics Team that consists of members of our Medical and Scientific Advisory Board with extensive experience and who have reviewed the cases of hundreds of patients with Pachyonychia Congenita and other similar rare diseases.
One of two things will happen:
- If the case seems typical of PC or a similar disease that can be tested for on a 49 gene testing panel, PC Project will notify you and ask the patient to join the diagnostic Patient Registry.
- We then will arrange genetic testing with you or through the patient directly.
- A saliva kit is mailed directly to patient/family, sample collected, and returned to lab for testing.
- When genetic test results are available, we will again discuss the results with the Genetics Team and then send a detailed letter and report from the laboratory.
- If the case does not seem typical of PC or other painful plantar keratodermas and the Genetics Team does not think testing on the 49 gene testing panel will be beneficial, PC Project will notify you of the decision and of any additional thoughts from the team including other possible diagnoses.
Referral Process
WHAT HAPPENS WHEN YOU REFER A PATIENT TO OUR REGISTRY
If your patient has clinical signs of PC, you can invite them to complete the Patient Registry forms which consists of consent, a questionnaire, and photos of their symptoms. (You can complete the registry on behalf of your patient using the above link, especially if there are language barriers.)
PC Project will contact you or the patient directly to gather additional information, answer questions, and give support as needed. If likely PC or a painful keratoderma we can test for, a saliva kit will be mailed for sample collection, then returned to the lab for testing.
Results will be reviewed with the PC Genetics Team of experts with the following outcomes:
- A mutation is found through testing and a diagnosis confirmed. A report will be sent to the patient and referring doctor.
- No mutation is found, and a report will be sent to the patient and referring doctor with possible suggestions for next steps.
- Additional testing will be needed.
All patient information received will be protected and kept confidential per the protocols of our IRB approved registry and HIPAA compliant, secure database.
