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Brief History of PC Project
Nov 2006
- A meeting of the PC Fund Board will be held November 1 at the PC Project offices in Salt Lake City.
Oct 2006
- 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.
- The revised IPCRR questionnaire and consent form were approved and will be available in the next few weeks.
- On October 25 the toxocology studies for the siRNA inhibitor developed by TransDerm (see June 2006 below) began and will continue for 28 injections. The FDA requires these studies and very complex testing to assure safety of the drug.
- The PC biopsies taken in May 2006 were successfully grafted on mice with collaborators in Spain. Roger Kaspar visited the lab in Spain and conducted tests on the human skin which had been grown on the mice.
- Roger Kaspar was invited and gave a presentation on siRNA inhibitors for PC at the DEbra meeting in Dublin, Ireland.
- A final US Patent has been filed for the PC siRNA lead inhibitors (the preliminary patent was filed about 11 months ago).
- The MSAB held three conference calls and decisions were made regarding the IPCC meetings in 2007 and 2008, as well as a special focus group meeting following the 2007 Patient Support Meeting.
Sep 2006
- The quarterly IPCC Newsletter was sent to approximately 80 members of the IPCC
- A special patient Newsletter was mailed to all PC patients/families who are registered with PC Project
- PC Project has 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. The application to the FDA and an application for a grant from the OOPD will be under Dr. Leachman's direction. Dr. Pho will serve as the PC Research Fellow. Dr. Pho completed her M.D. degree in May 2006 at the University of Utah and will assist Dr. Leachman in the laboratory work necessary to establish efficacy and measurements for PC treatments.
Aug 2006
- The revised IPCRR questionnaire has been completed (after two years of effort!) and will be submitted for IRB approval. Now less than half as long, the Questionnaire is designed to be both shorter and more precise. The 100+ PC patients who have participated in the registry and completed the 'long-form' will not need to re-do the questionnaire as we have carefully worked to coordinate the responses in our database. We hope all who have participated will know their responses and participation in the registry has led the research and shaped the direction of the work being accomplished for PC.
- A new brochure "For Schools" was prepared and mailed to families with school-age children.
July 2006
- The 2006 Patient support was hosted by Drs. W.H. Irwin McLean and Frances J.D. Smith on July18-20 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. A favorite feature of this meeting was the tour of the McLean research laboratory at the University of Dundee.
- Dr. Mark Eliason begins his 4-year residency in Dermatology at the University of Utah. Mark has accomplished so much for PC and been a very integral part of PC Project working closely with us on our grant applications, the retinoid survey, the severity and pain scale development, the photography protocols and many other important projects. We will miss him greatly.
- Rachel Miller is our part time clerical assistant for PC Project.
June 2006
One of the first PC grants awarded was for development of a mouse which has the human PC gene. In June the first chimeric PC mouse pups were born at Baylor. There are still many steps needed to see if these mice will reproduce and pass this human gene on to their offspring so that PC can be induced. This will be very important for testing prior to human clinical trials.
TransDerm, our biotech partner, received notice of Orphan Drug Status for their lead siRNA inhibitor for pachyonychia congenita. This is a major step on the pathway to drug approval through the FDA.
Roger Kaspar, Sancy Leachman and Mary Schwartz met with Steve Hutcherson a professional consultant who is assisting in planning and preparing for submission to FDA for clinical trial approval. Steve also arranged for discussions with Bert Spilker and for contacts with companies to conduct the toxicology studies in rodents for the lead siRNA inhibitors.
The response to the Retinoid Supplement has been outstanding and preliminary results were mailed to all who responded. Dr. Eliason is finalizing the information for publication and available on the PC website. The results show that PC patients have not found retinoid treatment to be satisfactory or beneficial.
We have contacted specialists to assist us in thermal photography and other techniques which can be used to measure changes after treatment for PC hyperkeratosis.
May 2006
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.
Following the IPCC meeting, an Action Plan has been developed for the coming months and the MSAB are working to achieve these goals.
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. Birgit Lane joined the PC Medical and Scientific Advisory Board (PC MSAB).
Dr. Sancy Leachman conducted tests on a PC patient (and on her own foot!) using saline and dye injections to determine how much and how to inject siRNA’s into human skin and calluses. Again, these steps are in preparation for later clinical trials.
Biopsies were provided by two PC patients and sent to collaborators in Spain to produce synthetic human skin which will be important as PC therapy moves forward. Also, a second biopsy was sent to Dr. Leonard Milstone (Yale) to develop immortalized K6a cells. Other scientists have and are developing stabilized and immortalized PC cells lines for K16, K6b and K17. All of these are needed for the testing necessary prior to clinical trials.
The CORT applicants were notified that their research grant application was scored and was 11the out of 30. It appears unlikely the grant will be funded. Also, word was received that a grant submitted by TransDerm also received a score that will not be funded. This grant score was surprising and upsetting in that the rationale for the score seemed to be based on (a) an incorrect assumption that retinoids are an effective therapy for PC and (b) some confusion between TransDerm's grant and another grant. We will not let these scores be a discouragement to our progress.
April 2006
Transderm, Inc. demonstrated that the siRNA successfully inhibit the specific mutant gene in tests in mouse paws.
PC Project is sponsoring a trial in which Dr. Sancy Leachman began an 'off label' trial for one PC patient using an approved drug which may have some effect on K16. It will be some months before results are known.
Dr. Frances J.D. Smith, the PC Career Development Awardee is the visiting research for six weeks at Transderm, Inc. working on collaborative development of various siRNA sequences to show efficacy of this approach.
On April 28, Dr. Smith visited Salt Lake City with Roger Kaspar and she was the guest lecuturer at the University of Utah Department of Dermatology.
March 2006
PC Project representatives attended the Obstacles to Translation Conference – March 1-2 in San Francisco. PC Project hosted a dinner after the Obstacles Conference for members of PC Project’s MSAB and other distinguished guests.
A meeting of the MSAB board was held March 3 in San Francisco after Obstacles conference. Some immediate goals set included locating companies who can manufacture siRNA to the quality needed (GMP) for use in humans. Two outstanding companies are Dharmacon which has supplied most of the research siRNA. At the end of March, Roger Kaspar, Mary Schwartz and Sancy Leachman met with Greg McParland of Girindis to discuss their options for GMP quality siRNA.
Notification was sent to several hundred dermatology applicants announcing the PC Research Fellowship.
A Supplement to the Questionnaire was approved by the IRB and sent to those patients who had completed the Questionnaire.
February 2006
Dr. Sancy Leachman conducts a clinical trial with Janice Schwartz using Tazorac as a topical application. Although the treatment is not really expected to work, the trial is useful to set up protocols for future clinical trials.
PC Fellow Dr. Mark Elliason developed a severity scale and pain scale which may also be useful for future clinical trials.
January 2006
PC Project is accepted as a member of the Coalition of Skin Disease (CSD) which is an umbrella support group of organizations devoted to skin disease. The CSD works closely with the American Association of Dermatology (AAD) and coordinates the displays at the AAD annual meeting.
October 2005
The Journal of Investigative Dermatology: 2004 PC Symposium Proceedings issue was completed after months of preparation and published this month. A complimentary copy was mailed to each patient who is part of the IPCRR. Copies were also mailed to each author and sub-author, to all members of the IPCC, and to other physicians who have been listed by PC patients.
The American Society of Human Genetics (ASHG) conference was held in Salt Lake City, UT on October 26-29. PC Project had a booth. Also, a poster presentation by Roger Kaspar and Robyn Hickerson demonstrated sequence-specific siRNA effectively inhibiting mutant PC cells.
PC Project hosted a dinner meeting for a select group of conference attendees who have a specific interest in skin and keratin disorders.
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.
The CORT grant was submitted to the NIH/NIAMS for consideration.
September 2005
A provisional patent filed by TransDerm for PC therapy
August 2005
A marvelous and successful Patient Support Meeting took place in Niagara Falls 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 2005
Planning for the upcoming Patient Support Meeting in Niagara Falls continues. PC Project has applied for a NIH-NIAMS grant to support the 2006 IPCC Scientific Meeting.
Additional staff are assisting with PC activities. In addition to Dr. Mark Eliason, there are several administrative staff working on the CORT grant application at the University of Utah. The CORT is a major NIH grant over five years which may be very important in moving our research forward to clinical trials.
Initial contacts have been made with the FDA to being the process of seeking approval for an siRNA therapy developed to inhibit keratin genes and which appears effective in very early stage cell culture testing..
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.
June 2005
The PC Project Medical and Scientific Advisorty Board (MSAB) set PC Project Goals for 2005-2006 based on the input from the IPCC meeting in May.
Dr. Mark Eliason, MD - is the PC Project Research Fellow for 2005-2006, Dr. Eliason will begin his Dermatology residency in July 2006 at the University of Utah. He has completed a one year fellowship in Dermatology in addition to his other medical studies.
Matt James - is our summer intern from the University of Florida. Matt will be working on non-governmental grant applications and fund raising.
Kim Baker - our clerical assistant began working with PC Project in January and will be with us through the end of the year.
May 2005
Annual meeting of the IPCC in St. Louis, MO. More than 30 leadingclinicians and scientists attended the meeting. The presentations were excellent, the dynamics amazing, and the collaboration and ideas were powerful. 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.
Apr 2005
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.
Mar 2005
Dr. Sancy Leachman, Mary Schwartz and Jan Schwartz met with Dr. Alan Moshell of NIAMS (NIH) to discuss options for funding for research on pachyonychia congenita.
Feb 2005
Three new publications were prepared (1) For Medical Professionals and Scientists (2) For Patients and (3) For Fund Raising or general use Completed agreements for licensing and other arrangements regarding biotech issues for delivery.
Nov 2004
Initial negotiations to establish a biotech entity to focus on delivery challenges and incorporated TransDerm as a PC biotech firm.
Oct 2004
Developed concept of three focus areas (1) Basic and Translational Research (2) Clinical Research and (3) Patient Support; began discussions on means to succeed in delivery of therapeutics to skin.
Sep 2004
Sixteen PC patients and 15 family members attended a PC Patient Support Meeting in Dundee, Scotland hosted by Irwin McLean and Frances Smith
Jul 2004
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.
June 2004
The response to the Patient Message Board prompted us to purchase new software and a new and improved PMB is now available on the website.
May 2004
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 4 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.
Apr 2004
Grant proposals were received and reviewed for funding. In this first year, we want to explore as many possibilities as possible so that we can find the most promising research to lead to clinical trials.
Mar 2004
We submitted our application for IRB approval for research registry. This was a major effort for this entire month in preparing and developing the protocol, database, questionnaire, consent and other requirements.
Feb 2004
The first Pachyonychia Congenita Symposium was held in Park City, UT. The International PC Consortium (IPCC) was organized with 23 physicians and scientists.
Following the Symposium, we reset our goals to allow funding of up to 3 Seed Grants for 2004. We will aim for selection of a Career Development Award (CDA) research grant recipient to follow in 2005. We held planning meetings and complete inital planning for Registry including drafting of questionnaire and initial database considerations; drafting proposal for IRB.
Also, this month the PC Patient Message Board is up and running on the website as a double-protected site for PC patients and family members to exchange messages.
Jan 2004
A photo albume 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.
Dec 2003
Bibliography (draft) 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. Also, an article was submitted to F.I.R.S.T.
Nov 2003
Pachyonychia Congenita Fund (PC Fund) aka PC Project was incorporated as a US public charity under 501(c)(3).
Oct 2003
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
Mar 2003
Dr. Ralph Bradley referred us to Dr. Sancy Leachman at the University of Utah. She is a dermatologist who specializes in skin cancer genetics. Met with Dr Leachman and established objectives for the PC Project including the need to make PC known among leading researcher and thought leaders so that all possibilities can be explored and the best options selected for success.
Nov 2002
Established inital funding for PC Project in a charitable gift account.
2001
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
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