International Pachyonychia Congenita Research Registry (IPCRR)

International Pachyonychia Congenita Research Registry

Our most powerful asset to help patients and to find meaningful treatments for PC and similar conditions with painful palmoplantar keratoderma

If you have – or think you have – PC or a related palmoplantar Epidermal Differentiation Disorder (pEDD), please join the global patient research registry.

Join the Patient Registry

Participating in the registry is the single most important thing a patient can do to advance research and drug development for PC and other similar rare skin diseases with painful palmoplantar keratoderma, now classified as pEDDs. What’s more, if you have lived your life without a name or reason why you have painful calluses or thickened skin on the bottoms of your feet, or if you are a parent of a young child with thickened nails, joining our Patient Registry is the first step to receiving a correct diagnosis and becoming part of a knowledgeable and caring community.

Patients joining the diagnostic registry are asked to answer questions about their condition and submit photos of their symptoms. This takes about 30 minutes.

Once your case is reviewed, if appropriate and if you have clinical signs of PC or another palmoplantar Epidermal Differentiation Disorder (pEDD), we will mail a saliva kit for collecting a sample for diagnostic genetic testing. The results from this test are reviewed alongside the patient’s answers and photos by our expert genetics and medical panel.

Each diagnosis from start to finish costs PC Project approximately $1,000 to provide. This service is made possible by generous donors and volunteer experts who believe every individual and family deserves access to answers, regardless of financial circumstances. If you’re able, we invite you to pay it forward with a donation of any amount to help another individual or family have the same opportunity, but there is no expectation.

If you are confirmed as having PC or another related pEDD, you are considered fully enrolled in the International Pachyonychia Congenita Research Registry. PC Project is the only organization in the world to hold a Physician Verified Patient Registry for Pachyonychia Congenita and related genetic skin diseases with painful palmoplantar keratoderma (thick skin or calluses on the hands and/or bottoms of the feet).

We hold your data as a medical record file and your personal information is kept strictly confidential and protected by privacy laws.

Benefits of joining our patient registry

Confidential, state-of-the-art genetic testing to confirm your diagnosis, if needed.
Your registry case reviewed and results verified by an international genetics/medical team that specializes in rare genetic palmoplantar skin disorders.
Ongoing support for disability forms for insurance, parking permits, disability claims, etc.
Access to the most up-to-date advancements in research, treatments, and products for your specific condition.
Notification about clinical trials for PC or other rare painful pEDDs.
Ability to connect with others with PC and other pEDDs from around the world to share insights and coping strategies.
Access to the private PC/pEDD Patient Chat Group on Facebook.
Reassurance that you are part of the solution to do everything possible to help find treatments and a cure for PC and other genetic pEDDs.

Let us help you today!

Click to access the forms to join the Patient Registry

Please note: Every patient needs their own account with their unique username and password to access the registry questionnaire. If needed, the same email can be used for multiple patient accounts. For example, if a physician or parent is registering more than one patient/family member, they will need to create an account for each person with PC or a related pEDD, but they can still use the same email if the individual patient doesn’t have their own.

What about babies and small children? Should I register my children with PC or a related pEDD?

If a baby or small child develops signs of PC or another pEDD and neither parent has it, the parent should register the child and our team will review the case to see if we can test. We have assisted saliva kits especially made for painlessly collecting samples from little children.

If a child is born to a person with a known PC or other pEDD mutation, PC Project has a “wait and see” policy. If the child has the disease, the symptoms will not hide. If symptoms of PC or any type of pEDD are present, we strongly encourage you to enroll your child in the registry. Our team will review the case, and we can provide letters for schools and other support as needed.

Unless something is uniquely different about your child’s condition, you can be assured, depending on the pattern of inheritance, that your child has the exact mutation as the parent and testing will not be needed. If the parent has never been tested, we will then test the child and/or the parent so the family can know what type of pEDD and mutation they have.

NOTE: If you are already connected with PC Project or you have already registered, sign in and click the “Forgot your password” link or contact PC Project for your account details. If you previously joined our patient registry, some of your existing answers will pull into the questionnaire. At that point, you will be able to answer the new questions and update your existing information.

Joining the registry changed my life.
K6A PATIENT

Everyone deserves a correct diagnosis

How Our Patient Registry Helps Research

The International Pachyonychia Congenita Research Registry is central to our success in advancing research and developing therapies for PC and other pEDDs. Data from the registry has literally changed what was known about PC and we continue to learn. De-identified registry data is shared with researchers and published in medical and scientific journals. Gradually, we are collecting more information about the other rare skin conditions with painful pEDDs.

Now, as we are moving into drug development for potential treatments, individuals in our patient registry are notified and offered the opportunities to participate in applicable studies, clinical trials, and other research projects. Pharmaceutical companies regularly ask us how many patients we have in our registry. They need to know if they develop a treatment that 1) there are enough patients to participate in trials and 2) if there are patients out there who will use (buy) the treatment. In other words, the higher our registry numbers, the more attractive PC is to drug developers and pharma companies.

PC is rare. Each patient and their information counts. Be counted for a cure!

Benefits for others

Your unique information will add to the growing knowledge, profile, and possibility of finding effective treatments and ultimately a cure for PC
You will help with outreach to others by connecting, building, and strengthening the community of people with this rare condition
Research done now will help those with PC and future generations

How to participate

Step One: Register/sign in on this page. You will create your own username and password. This will then allow you access to the International Pachyonychia Congenita Research Registry which includes a Consent form and Questionnaire (an IRB approved (WIRB 20040468) registry), along with the ability to upload photos of your symptoms. You can save as you go and update previous answers at any time. The Consent Form protects your privacy. The Questionnaire gathers important details about your skin condition, and helps to identify specific characteristics of each disease. If you are not certain about an answer or if it doesn’t apply, you may skip that question.
Step Two: Take photos of your symptoms, especially the bottoms of the feet, palms, fingernails and toenails, cysts, and any other symptoms that you think are associated with your skin condition. You will be able to upload your images online in the registry portal, or if you prefer, you may email the photos to PC Project at info@pachyonychia.org. Photos of the PC symptoms are crucial for our medical/genetics team in reviewing your case.
Step Three: When your Consent Form, Questionnaire, and Photos are submitted into the secure database and received by PC Project, we will review your information and then contact you regarding the next steps.
Step Four: If referred for genetic testing, a small saliva collection kit will be mailed to you (no travel required). Once the saliva sample is collected, you will then mail the kit back in the envelope provided. Genetic testing to find a disease-causing mutation is complex and time-consuming — it is not like a glucose test, pregnancy test, or one of the ancestry tests found on the market today. It is expensive and can take several months to complete.
Step Five: When PC Project receives the results from the lab, our PC Genetics Team of experts will review your entire case. Then, a full genetic testing report is provided to you with information specific to your condition. This will be your personal and private medical record. You may find the report valuable in working with your local physician or other medical providers, as well as for school personnel, employers, disability applications, or other special needs. All of your information is kept confidential by PC Project and research data is reported anonymously.

If you are a medical professional: We have a PC Genetics Team of experts who meets monthly to review and verify cases. We take referrals from all medical professionals and our team is available to review and discuss cases with you.

Help your patient get a correct diagnosis.

Learn More About Referring a Patient

Why every person who thinks they have PC should join the free, confidential Patient Registry

To verify a definite diagnosis of PC
To understand the implications of PC
To pursue best treatment practices for PC
To connect with others who understand and live with PC
To add to the collected data about PC
To better understand what is true about PC and what is not
To gather a body of genetically confirmed patients to participate in studies and clinical trials
To educate scientists and physicians about PC
To share advice and suggestions for taking care of PC
To build a PC community
To show drug developers there are many people with PC and other similar rare skin diseases who need treatments

From PC Patients: Advantages of joining the Registry

Our PC Project family makes life much easier!

For me, it’s knowing there are others out there with the same or very similar condition. Literally EVERYONE in the PC Project family are amazing. I see everyone within the group as part of my family.

Advice and support from people who can empathize are the small things that make a huge difference, and it also gives people the priceless gift of hope. As cliche as it is, people certainly have a lot to gain and absolutely nothing to lose from joining the registry.

The IPCRR Registry is important for research to find treatments and cures. Scientists and scientific organizations see the Registry as a way to easily access PC patients to volunteer as subjects for clinical trials.

Being in the “older” generation, I have to say it’s a great feeling knowing our family isn’t the only one who has this problem. Growing up no one we ever met was like us. We were taught to hide our nails and feet at all times. It was an awful way to grow up. Always nervous someone would see and I would be in trouble for something I really couldn’t control.

Knowing you are not alone is a big help. Sharing coping strategies is a big help. Others have tried lots of things and some help more than others, but it’s good to learn how to get through each day when some days the pain is unbearable, and knowing others manage to get through it.

I have never met anyone with this condition. I have just recently found out I have PC. I now want to know more and help in any way I can to make things better for the younger generation coming up with this.

Having an answer. Whether it’s PC or something else, at least you know that much more about what you have.

You can post your questions and see what others advise or recommend. Just having other folks out there who share your disease is an educational experience you may never get from a foot doctor or dermatologist. Why? Because the medical field is learning from us. How cool is that. Join the registry and give yourself the opportunity to better understand your condition. Believe me, it’s a win-win!

Scientists took a chance on us because they knew we had willing patients who desperately need treatments. The registry data has told them that. And then the registry patients have risen to the occasion as we knew they would to participate in studies. I wish every patient could catch the vision and join the registry to be “counted for a cure” or even “counted for a treatment.”

The confirmation of the FREE genetic test results can be essential to someone for a disability case or to assist in certain quests to find various doctors.

International Pachyonychia Congenita Research Registry (IPCRR)