Pachyonychia Congenita is one of nearly 7,000 rare diseases, 2,000–3,000 of which are rare genetic skin diseases. Over the past 20 years, PC Project with the work of IPCC members, the participation from PC Patients in the IPCRR patient registry and many other supporters, have educated the world about PC and is on the path to developing treatments for PC.
The best place to find the past accomplishments and additional historic information is in the PC News Briefs or Annual Reports. Another option is to read the article “How One Grandmother Fought for Patients of a Rare Disease … When No One Else Would.” The following is an introduction from the author Jack Padovano that was emailed with the article to the PC Community in December 2021.
The day the very first PC scientific conference ended in February 2004, founder Mary Schwartz’s grandson who was seven years old asked ‘So, did you find a cure?’ That question pierced her heart and we have never forgotten the trust and expectation that question holds for PC Project. We have never lessened our efforts or changed our purpose. However, we have learned so much these past years.
We now know that the question isn’t “Did you find…” but the question really is “Did we find…” Progress since 2004 has been driven by active patient participation — those who have joined in the patient registry, attended patient meetings, and responded to numerous surveys and small studies. The PC patient community has a direct impact on the research goals and direction of PC Project.
As we understand more about PC through larger numbers of patient participants, we realize the cure isn’t hiding out there somewhere. In fact, we won’t ‘find‘ the answer — we will have to ‘develop‘ the drugs or treatments for PC. In our slogan we’ve changed the word from ‘find’ (which is somewhat passive) to ‘fighting’ for a cure which much better describes the effort required to develop a new treatment.
Also, we have realized ‘cure‘ is an interesting word. For many, it brings to mind trading out the gene that has the mutation for a new copy, one without PC. We realize that ‘effective treatments‘ is a more correct description of the cure we seek for PC. This may be in the form of drugs that turn off the effects of the gene, or drugs that turn up other non-PC genes to overcome the effects. Many different approaches are being developed and tested. PC isn’t just one disorder, it is a syndrome of conditions and there is not just one pathway to success, especially when we are here to help every patient across all five genes and each of the over 125 mutations.
At PC Project, we are fighting for a cure, connecting and helping patients, empowering research, and now, partnering with industry. And, we are successful because of the participation from the patient community. Thank you for joining with us as we move forward to success in these areas.
Brief ‘tidbits’ from the beginning days and achievements of PC Project …
- Schwartz family sent email requests to institutions and researchers, but received no response. We conducted research to identify rare disease organizations. We also contacted an attorney regarding organization of a charity. Then we saw the article “Saving Ryan” in Reader’s Digest and we set the goal to seek a cure for PC.
- Schwartz family established inital funding for PC Project in a charitable gift account.
- First PC Project website posted to internet including grant award information. Citations for a PC bibliography were identified. Filed with the U.S. Internal Revenue Service (IRS) for status as a public charity.
- Pachyonychia Congenita Fund (PC Fund) aka PC Project was incorporated as a US public charity under 501(c)(3).
- Bibliography (Published Research Articles) was posted to the website. A brochure for medical professionals and scientists was prepared. We held our first meeting with the Institutional Review Board (IRB) regarding our proposed research registry. PC Project offices were set up and a protected database established for communications and protected data… and we began with 3 PC patients!
- Initial negotiations to establish a biotech entity to focus on delivery challenges and incorporated TransDerm as a PC biotech firm.
- Developed concept of three focus areas:
- (1) Basic and Translational Research
- (2) Clinical Research and
- (3) Patient Support
- Sixteen PC patients and 15 family members attended a PC Patient Support Meeting in Dundee, Scotland hosted by Irwin McLean and Frances Smith.
- PC Project hosted ten PC patients and 5 family members at the FIRST Conference in Kansas City, MO; PC Project Board of Trustees organized; PC Project recognized as a Public Charity by US IRS.
- IRB approval received for the International PC Research Registry (IPCRR). PC Project announced eight research grants were awarded. A Patient Support Meeting was held in Salt Lake City. The meeting included four PC patients and two dermatologists and questions submitted by PC patients worldwide were discussed. The meeting was videotaped and is available to view on the website.
- The first Pachyonychia Congenita Symposium was held in Park City, UT. The International PC Consortium (IPCC) was organized with 23 physicians and scientists.
- The PC Patient Message Board went up on the website as a double-protected site for PC patients and family members to exchange messages.
- A photo album was added and the first PC images were added to website. A few bibliography links were added to website. PC brochures were printed for distribution at the AAD conference. We have now made contact with several PC patients through the website.
- The Journal of Investigative Dermatology: 2004 PC Symposium Proceedings issue was completed after months of preparation and published.
- The American Society of Human Genetics (ASHG) conference was held in Salt Lake City, UT on October 26-29. A poster presentation by Roger Kaspar and Robyn Hickerson demonstrated sequence-specific siRNA effectively inhibiting mutant PC cells.
- A series of informative lectures were given at various locations in Orem and Salt Lake City by Roger Kaspar, outlining the exciting developments in siRNA therapy for PC.
- A Patient Support Meeting took place in Niagara Falls on August 25-27, 2005 with more than 100 in attendance, including 36 PCers with their family members and 12 outstanding clinicians and scientists. Just before the meeting, PC Project received approval to conduct sample collection at the meeting and this activity was well supported by the attendees. Sample collection included digital photography, confocal photography, tape strip collection, skin shards, and hair samples.
- July 1, 2005 marked the incorporation of TransDerm, Inc. headed by Roger Kaspar, founder and CEO. TransDerm has formed a partnership with PC Project and will actively pursue siRNA therapy for PC.
- Annual meeting of the IPCC was held in St. Louis, MO. More than 30 leading clinicians and scientists attended the meeting. A special award was given to Qian Wang of Standord University for her work on PC this past year. The CDA Award was presented to Frances JD Smith.
- The PC patient registry (IPCRR) has identified approximately 200 PC patients.
- PC Bibliography completed including locating 487 articles, creating pdf files, obtaining more than 80 translations; Bibliography available on web with search features; PC website structure re-designed and updated.
- The Philip Mazzo Scholarship fund was established to provide travel assistance for families to attend PC Patient Support Meetings. Mr. Mazzo is the grandfather of Nicole Smith, a PCer.
- PC Project was a co-sponsor for the 2nd Annual Meeting of the Oligonucleotide Therapeutics Society, New York City. Drs. Leachman, Kaspar, Hickerson and Mary Schwartz attended the meeting.
- PC Project funded a research grant for Dr. Sancy Leachman of the University of Utah so that she can devote time to prepare for Pachyonychia Congenita clinical trials.
- A new brochure “For Schools” was prepared and mailed to families with school-age children.
- The 2006 Patient support was hosted by Drs. W.H. Irwin McLean and Frances J.D. Smith on July 18-20 in Dundee, Scotland. There were 31 PC patients in attendance, 27 with known mutations. Patients were from 11 countries — Brazil (1), England (11), Denmark (1), Finland (1), France (4), Ireland (1), Netherlands (1), Scotland (3), Sweden (1), USA (4), and Wales (1). Of these patients, there were 15 attending a PC meeting for the first time and 16 prior attendees. A total of 24 patients participated in some associated research efforts, including sampling of hair and calluses from the feet.
- One of the first PC grants awarded was for development of a mouse which has the human PC gene.
- The third IPCC Symposium was held May 2-3, 2006 in Philadelphia, PA as an ancillary meeting to the SID. PC Project had a booth and several posters at the SID meeting.
- At the two year anniversary for the IPCRR (PC research registry), more than 300 PC patients have been identified worldwide and more than 100 are participants in the registry.
- Dr. Frances J.D. Smith, the PC Career Development Awardee was the visiting research for six weeks at Transderm, Inc. working on collaborative development of various siRNA sequences to show efficacy of this approach.
- PC Project was accepted as a member of the Coalition of Skin Disease (CSD). The CSD works closely with the American Association of Dermatology (AAD) and coordinates the displays at the AAD annual meeting.
- Completed the rodent toxicity study; filed the FDA IND application for Phase1B clinical trial.
- IPCC Members attended a ‘western adventure’ focus meeting to evaluate the various pathways for development of PC treatments.
- The 2007 PSM was held in Park City, Utah on June 12-14th. There were 46 PCers and about 130 people total in attendance.
- The IPCC annual meeting was held in Los Angeles, California on May 9 in conjunction with the SID annual meeting.
- The annual AAD meeting was held in Washington DC on Feb 2-6th. PC Project was asked to provide a presentation on our progress in developing treatments for PC.
- IRB approval was received for a PC study using statins with Dr. Peter Hull.
- An R-13 meeting grant was awarded for the “Delivery to Skin” meeting for May 2009 by the Office of Rare Diseases.
- An important publication regarding the clinical trial for TD101 (siRNA for PC) was submitted for publication.
- PC Webinar series was initiated.
- The completely re-designed website at www.pachyonychia.org was launched on 1 Aug 2008.
- The 2008 PSM was held in Pitlochry, Scotland on July 15-17th. There were 59 PCers from more than a dozen countries with about 161 people total in attendance.
- A new 3-year grant was awarded to Dr. Frances Smith to continue the genetic testing for PC patients.
- The 2008 IPCC Symposium was held in Hefei City, China on May 18-20th. One day was a Patient Support Meeting with 11 PCers, and the other days included scientific presentations and discussion on moving PC research forward.
- On May 13, 2008 in Kyoto, Japan, IPCC members hosted a ½ day meeting in conjunction with the SID/IID annual meeting to provide an update of PC research.
- We received approval from the US Internal Revenue Service confirming PC Project as a 501(c)3 public charity.
- A clinical trial approved by the US FDA began. The purpose of the trial was to test the safety of an siRNA developed to target a specific PC mutation. The trial will lasted for 14 weeks, plus a 3-month ‘wash out’ period.
- An audited financial statement was prepared for PC Project for 2008 and has been posted on the website with the tax return and annual report.
- C. David Hansen, MD worked with PC Project to prepare IPCRR data for publication.
- Kid’s club web meeting.
- PC Project held a Best Practices Web Meeting on November 3rd. Eight physicians participated.
- Patient Support Meeting was held October 22nd-23rd in Edinburgh, Scotland.
- PC Project qualified for the 2010 Combined Federal Campaign CFC #89437.
- PC Project held a Best Practices Web Meeting on August 23rd. Fourteen physicians participated.
- Four patients and two scientists participate in Grand Round training session at Stanford University (joint meeting of residents and physicians for UC San Francisco, UC Davis, and Stanford); 75 medical professionals and students were educated on PC.
- PC patient dinner was held in New York City.
- National Institute of Arthritis, Musculoskeletal and Skin Diseases (NIAMS) awards $4 million Phase II Small Business Initiative in Research (SBIR) grant to TransDerm, Inc. (PC Project biotech partner) to develop and manufacture dissolvable microneedle arrays that allow patient-friendly delivery of next generation, self-delivery siRNA without the pain of traditional hypodermic injections.
- Patient Support Meeting and nail study was done by U of PA dermatologists in Philadelphia, PA.
- 1000th patient registered with PC Project — since May of 2004, 1007 people from nearly 50 countries have contacted PC Project.
- Sent out first pain and treatment survey to PC patients.
- May issue of Journal of Investigative Dermatology includes 10 articles on PC.
- International PC Consortium (IPCC) meeting of physicians and scientists was held in Phoenix, Arizona at Society of Investigative Dermatology.
- PC Project featured in USA Today supplement.
- The first PC Awareness Day was celebrated around the world.
- PC Project was selected to participate in a two-year pilot program to launch the Global Rare Disease Registry and Data Repository (GRDR) sponsored by Office of Rare Diseases, National Institutes of Health (NIH).
- PC Project was awarded a scientific meeting grant by the National Institute of Arthritis, Musculoskeletal and Skin Diseases (NIAMS), NIH for support of February 2013 International PC Consortium meeting in Park City, Utah.
- Patient Support Meeting was held in Roissy, France.
- Radio interview of Director Mary Schwartz, KLOVE.
- Pfizer agreed to provide TransDerm rapamycin for a topical rapamycin study in PC patients.
- IPCC meeting of physicians and scientists was held in Raleigh, North Carolina at the Society of Investigative Dermatology meeting.
- FDA-approved Phase 1b study of TD 101 (a siRNA sequence) using microneedle array completed.
- PC Project participated in press conference sponsored by TransDerm in Santa Cruz, CA in honor of PC Awareness Day and ThickSkin Duathlon to raise funds for PC Project.
- We had the first professionally-made short video on PC for major TV outlets and Internet distribution.
- Landmark study of International PC Research Registry (IPCRR) data published online in Journal of American Academy of Dermatology.