2386 East Heritage Way, Suite B
Salt Lake City, UT 84109
877-628-7300
www.pachyonychia.org
THANK YOU for participating in the first Pachyonychia
Congenita Golf Tournament. All donations to PC Project are
gratefully received and are matched $2-for-$1 and donated
funds are used 100% to fund research and support services.
Gold Sponsor — Mantyla McReynolds, CPA
Silver Sponsor — Zions Bank
Hole-In-One — Nate Wade Subaru
Saturday, August 20, 2011
The Homestead Golf Resort
Midway, Utah
TOURNAMENT SPONSORS
801-269-1818
Matt Johnson
801-844-7867
(801) 258-0590
HOLE SPONSORS
Jeff Pederson
801-562-3001
Jeremy Jackson Brandon LeRoy
(801) 277-3927
Buca di Beppo
Brigham Young University
Café Rio
Citris Grill
Corner Bakery Café
Five Guys Burgers & Fries
Massage Envy
Outback Steakhouse
Pei Wei Asian Diner
The Cheesecake Factory
Uinta Golfa
Cinemark Movie Theater
University of Utah
Utah Grizzlies
Utah Jazz
Raffle, Silent Auction and Prize Donors
David Frey Trent JefferiesDavid Frey Trent Jefferies 801801--274274--20452045
801-336-0564
Utah Cribs Real Estate Team Brad Miles - (801) 428-7223 Jake Breen, Spencer Janke
Wendy Wheeler 801-550-5350
1-888-346-0990
Corporate and Individual Health Programs
TEEBOX SPONSORS
801-328-3131
Jim Anderson
(801) 860-6200
801-943-5111
BOARD OF TRUSTEES
David B. Barlow (CEO)
C. David Hansen, MD (Dermatologist)
Roger L. Kaspar, PhD (Scientist and CEO)
F. Dwight Marchant (Bank Executive; retired)
Lex L. Udy. PhD (Scientist and CEO; retired)
Craig T. Vincent, Esq. (Attorney at Law)
MEDICAL AND SCIENTIFIC ADVISORY BOARD
Sherri Bale, PhD—GeneDx,
C. David Hansen, MD—University of UT, Dermatology
Peter R. Hull, MD—University of Saskatoon, Dermatology
Roger L. Kaspar, PhD—TransDerm,Inc, Santa Cruz, CA
E. Birgitte Lane, PhD—
W.H. Irwin McLean, DSc, FRSE—University of Dundee, Scotland
Leonard M. Milstone, MD—Yale University, Dermatology
Edel O'Toole, MD, PhD—Barts & the London, Queen Mary’s, Dermatology
Amy Paller, MD—Northwestern University, Dermatology
Dennis R. Roop, PhD—University of CO, Gates Stem Cell Center
Frances J.D. Smith, PhD—University of Dundee, Scotland
Eli Sprecher, MD, PhD—Tel Aviv Sourasky Medical Center, Dermatology
Maurice van Steensel, MD, PhD—University Maastricht, Dermatology
Jean Y. Tang, MD, PhD—Stanford University, Dermatology
PC Project Staff
Holly Evans, Administrative Assistant
Janice Schwartz, Patient Advocate (volunteer)
Billy Oslund (volunteer)
Mary Schwartz, Director (volunteer)
PC PROJECT CHARITY GOLF TOURNAMENT 2011 PC PROJECT CHARITY GOLF TOURNAMENT 2011
Hole # Sponsor Signs Contest Signs Prize
1 Mantyla MCREYNOLDS Photographs
2 Hole-in-one PING irons
Closest to the hole BYU “Stuff” Bag
3 Jackson & LeRoy Remodeling
4
5 Stoel-Rives
6 VendRx
7 Zions Wealth Advisors Long Drive PING putter
8 Nate Wade Subaru Hole-in-one New Car $26,000
9 Utah Cribs Real Estate
10
11 Kirkham & Friends Real Estate
12 Hole-in-one $500 cash
Closest to the hole Planet Fitness
13 Orriant
14 Hole-in-one Apple iPad
Closest to the hole Planet Fitness
15 Just4You Window Cleaning
16
17 Zions Wealth Advisors Long Drive TaylorMade putter 18 Del Sol & CariLoha
Tournament Contests and Prizes
RAFFLE—4 rounds of golf and over 40 other items totaling more than $1,400.00
in prizes — and don’t miss your chance to bid on the Silent Auction items.
1st Place Team—Four $60.00 Certificates at the Homestead Pro Shop and Four DelSol Sunglasses
2nd Place Team—Four $40.00 Certificates at the Homstead Pro Shop and CaRiLOHa tee shirts
3rd Place Team— Four CaRiLOHa golf shirts and four DelSol Frisbees
Plus High Score...Women’s Teams...and more
In December 2003, only three
patients were registered with
PC Project.
There are now over
1000 patients in more than 50
countries — and almost half have
received their genetic testing and are
participating in the International PC
Research Registry.
PC PROJECT CHARITY GOLF TOURNAMENT 2011
What is Pachyonychia Congenita? PC is an ultra rare genetic skin disorder caused by a single
mutation in one of at least four keratin genes including K6a, K6b, K16 or K17. PC may be he-
reditary (inherited from a parent who has PC) or may be spontaneous (a mutation occuring
when no parent or other family member has PC). Features of PC may include:
1) Painful blisters and calluses on hands and feet (focal palmar and plantar hyperkeratosis)
2) Thickened Nails (hypertrophic nail dystrophy or pachy-onychia)
3) Follicular hyperkeratosis (bumps around hairs at sites such as waist, hips, knees, elbows)
4) Leukokeratosis of the oral mucosa (white film on tongue, cheeks and sometimes larynx)
5) Cysts of various types (including steatocystoma and pilosebaceous cysts)
Change this... to this
Help us deliver a treatment and a cure — the gene therapy
research will also benefit many other disorders.
All Donations Welcome
Visit www.pachyonychia.org
Page 6 Page 3
PC PROJECT CHARITY GOLF TOURNAMENT 2011
WELCOME
We welcome you to the first Pachyonychia Congenita Charity Golf Tournament. We
hope you will make this an annual event—the funds raised will make a real difference in
advancing the most advanced in research in keratin disorders in the world.
Pachyonychia Congenita Project was founded in Salt Lake City in November 2003 and
the First International Symposium on Pachyonychia Congenita, headed by Sancy Leach-
man, MD, PhD, was held in February 2004 in Park City. At that meeting, the Interna-
tional PC Consortium (IPCC) was formed which has now grown to include over 100
physicians and scientists from more than 30 countries. In 2008, the first Phase 1b Clini-
cal Trial for PC was successfully completed proving the efficacy of a new class of drugs
known as siRNA (see abstract page 6 in this program).
From a base of only three patients in 2004, the PC Project registry now includes over
1000 patients in over 50 countries; over half (520) have now completed genetic testing.
This patient base and the collaboration of physicians and scientists has led to several
major 2011-2012 goals including a goal to sponsor multi-center, international clinical
studies for PC. Even though many of the specialists donate their time for our cause, the-
se trials cost millions of dollars.
Fundraising is key to accomplishing all that is now in envisioned. We appreciate so
much the sponsors of this 2011 Charity Golf Tournament and your individual participa-
tion. The funds raised (and the $2-for-$1 matching challenge) will help continue this
unique approach to patient advocacy and collaboration in research. We know our suc-
cesses will benefit many beyond the Pachyonychia Congenita community.
Holly Evans, Administrative Assistant
Mary Schwartz, Director
The phenotypic and molecular genetic
features of pachyonychia congenita.
McLean WH, Hansen CD, Eliason MJ, Smith FJ. Abstract Pachyonychia congenita (PC) is an autosomal dominant genodermatosis caused by heterozy-gous mutations in any one of the genes encoding the differentiation-specific keratins K6a, K6b, K16, or K17. The main clinical features of the condition include painful and highly debilitating plantar keratoderma, hypertrophic nail dystrophy, oral leukokeratosis, and a variety of epider-mal cysts. Although the condition has previously been subdivided into PC-1 and PC-2 sub-types, the phenotypic characterization of 1,000 mutation-verified PC patients enrolled in the International PC Research Registry, coordinated by the patient advocacy group PC Project, shows that there is considerable overlap between these subtypes. Thus, a new genotypic no-menclature is proposed, in which PC-6a represents a patient carrying a mutation in the K6a gene, etc. Although a rare disorder, PC represents a good model for therapy development, and international efforts are ongoing to develop and deliver siRNA, gene, correction, small mole-cule, and other strategies to treat this painful, disabling skin condition. The special relationship between PC Project and the PC research community has greatly accelerated the development pathway from gene identification to clinical trials in only a few years and represents a paradigm of hope for other orphan diseases.
J Invest Dermatol. 2011 May;131(5):1015-7. 2011 Mar 24.
PC PROJECT CHARITY GOLF TOURNAMENT 2011
PC PROJECT CHARITY GOLF TOURNAMENT 2011
First-in-human mutation-targeted siRNA phase
Ib trial of an inherited skin disorder.
Leachman SA, Hickerson RP, Schwartz ME, Bullough EE, Hutcherson SL, Boucher KM, Hansen CD, Eliason MJ, Srivatsa GS, Korn-brust DJ, Smith FJ, McLean WI, Milstone LM, Kaspar RL. Abstract The rare skin disorder pachyonychia congenita (PC) is an autosomal dominant syndrome that includes a disabling plantar keratoderma for which no satisfac-tory treatment is currently available. We have com-pleted a phase Ib clinical trial for treatment of PC utilizing the first short-interfering RNA (siRNA)-based therapeutic for skin. This siRNA, called TD101, specifically and potently targets the keratin 6a (K6a) N171K mutant mRNA without affecting wild-type K6a mRNA. The safety and efficacy of TD101 was tested in a single-patient 17-week, pro-spective, double-blind, split-body, vehicle-controlled, dose-escalation trial. Randomly assigned solutions of TD101 or vehicle control were injected in sym-metric plantar calluses on opposite feet. No adverse events occurred during the trial or in the 3-month washout period. Subjective patient assessment and physician clinical efficacy measures revealed re-gression of callus on the siRNA-treated, but not on the vehicle-treated foot. This trial represents the first time that siRNA has been used in a clinical setting to target a mutant gene or a genetic disorder, and the first use of siRNA in human skin. The callus re-gression seen on the patient's siRNA-treated foot appears sufficiently promising to warrant additional studies of siRNA in this and other dominant-negative skin diseases. Mol Ther. 2010 Feb;18(2):442-6. 2009 Nov 24.