Pachyonychia Congenitia Project

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PC Awareness – June 2023

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Every June, those of us living with Pachyonychia Congenita (PC) – plus our families and friends who love us – come together around a chosen theme to raise awareness about this debilitating disease.

This year, our theme for PC Awareness Month is “What I Wish You Knew About PC.”

We are so excited about this theme because it gives us a chance to share our personal stories and help educate our friends, family, doctors, and employers about what living life with PC is all about and what we’d like them to know.

Here are a few simple things you can do today:

  • Post your own selfie video to social media talking about what you wish people knew about PC and why that understanding would make things better for yourself or someone you love. (Make sure to use the hashtag #WhatIWishYouKnewAboutPC and tag @pachyonychia or complete this form (send video link, upload video/photos or write your answers))
  • Please watch for videos from others, and share them with your family, friends and followers.
  • Make a donation – All donations in the month of June will be matched.

What I Wish My Doctor Knew About PC

Jack Padovano

PC is a rare disease that affects people all over the world. Unfortunately, most people never heard of PC, and those who have often do not understand what it is and the challenges we face every day.

This can be incredibly frustrating, especially when the person who doesn’t know is your doctor. PC Project works hard to educate medical professionals. Watch and share this video by our Board Chair and PC patient, Jack Padovano.

What I Wish My School Knew About PC

Allison Block

I’m 13 years old and I have Pachyonychia Congenita. PC makes my feet hurt so much that I sometimes need crutches or a wheelchair. This makes everyday tasks really hard, especially in school. Sometimes I can’t get to my classes on time, and it’s hard to participate in some of the activities the other kids get to do.

I don’t want to be different. All I want is to go to school and learn, just like all the other kids. But to do that, I might need a little help like extra time to get to class or complete my assignments.

Most of my teachers try to be understanding. But some teachers just don’t get it. When teachers don’t understand what it’s like to have PC, it just makes a hard day even harder.

But I’m grateful that PC Project is working every day to educate people about PC, so that kids like me can get the support we need to do our best in school.

What I Wish My Friends Knew About PC

Stephen Wittmer

When PC Project asked me to make a video talking about what I wish others knew about PC, I almost said no.

I have spent a lot of time and energy hiding my PC, especially from my friends. PC causes extremely painful callouses and blisters on my feet. They are not very pretty to look at so I avoid any activities where my feet are exposed.

But it’s more than that. I also hide the fact that I’m in almost constant pain. I don’t want the people who care about me to worry.

But the hiding causes its own problems. Sometimes the pain makes me get angry and lash out. Sometimes I cancel plans last minute because I’m tired or my feet hurt. By not being candid about my PC, friends can think they did something wrong, or I don’t want to see them.

Because PC is so rare, it’s easy to feel alone. Thankfully PC Project has given me a community of other PC patients, their families, doctors, and other PC allies that provide understanding and connection.

But I also have a community of friends that would support me too, if I’d just give them the chance to understand what I’m going through.

What I Wish My Family Knew About PC

Vania, Victoria and Kimberly Diaz Rosas

When my daughter Vania was first diagnosed with PC, I had a million different questions. Some the doctors could answer, others they couldn’t.

Fortunately, I found PC Project.

PC Project helped me understand what PC is and what it isn’t. They reassured me that Vania could still have a great life. They taught me ways to manage her symptoms, and what to expect as she got older. PC Project is a vital resource I still count on almost every day.

But no matter how much I educate myself about PC, I can’t know how my daughter experiences having PC unless she tells me.

So my number one job as a mom and PC caregiver is to listen and understand.

I believe families are the first line of support for PC patients. Even a good day is hard for Vania, and she will encounter enough challenges outside of our home. As her family, we want to provide love and empower her.

And that’s what PC Project strives to do, too. I’m comforted knowing that Vania and other PC patients also have their PC Project family to count on when they need them.

What I Wish My Employer Knew About PC

Helaine Alessio

Every day when I go into work, my spirit and energy starts pretty high. But unfortunately, it doesn’t last.

As the day goes on, pain in my feet from Pachyonychia Congenita (PC) takes its toll on my mood and my energy level. I’m less productive than I want to be.

Because this disease is so rare, most people have never heard of it, including my employer and coworkers. Even after I explain, most still don’t understand how hard it can be to do the things they take for granted — things like standing up or walking just a few steps.

There’s a lot I wish the people I work with understood about PC. But most importantly, I wish they knew that having PC doesn’t mean I can’t be a good teammate. It’s the opposite.

PC has taught me that I’m more resilient than most people. I have lots of compassion for others when they are struggling or in pain. I find creative solutions to many of the challenges of PC. All of these qualities make me better at my job.

That’s what I want my employer and coworkers to know.

PCers Needed to Answer 4 Questions

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2023 Voice of the Patient Update
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2023 Voice of the Patient Update

The EL-PFDD meeting with FDA in 2018 was a success and has been very critical in PC drug development. Because it has been five years, we plan to send an update to FDA officials to let them know we still need treatments for PC. Some of these questions may look familiar but it is important for you to complete them again for this update to the official Voice of the Patient Report.

Do not include your experience with recent clinical trials treatments in your answers.
Contact Information
What is your age or the age of the person you care for?
In which PC gene is your specific mutation found?
1. Overall, how would you characterize your PC disease severity or the severity of the person you care for compared to someone without PC?
2. Which PC conditions have impacted your life? Check all that apply.
3. How satisfied are you with the treatments available today for your PC?
4. Have you ever utilized a mobility assistance device (e.g., wheelchair, cane, scooter, walker) or employed an alternative form of mobility (e.g. such as bikes, strollers, crawling, holding onto walls or rails, piggy-backing, holding onto another person, etc.) because of your PC?
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Camp Discovery

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Every summer, the American Academy of Dermatology (AAD) sponsors five (5) one-week sessions of Camp Discovery — a camp designed specifically to meet the medical needs of kids living with chronic skin conditions such as eczema, psoriasis, vitiligo, alopecia, epidermolysis bullosa, ichthyosis, or any other dermatologic condition that creates an impact on a child’s ability to actively participate in activities/events with their peers.

As you may know, research has shown that there is an impact of pediatric skin disease on self-esteem. In a recent study that evaluated the impact of camp on children with cancer, and their siblings, findings report positive impacts of the camping experience on a range of outcomes related to emotional, physical, self-esteem, and social functioning.

Camp Discovery is:

  • Provided at no cost to families (including airfare), kids from across the United States, and around the world, attend Camp Discovery to experience an adventure filled with fun, friendship, and personal growth. This unique program provides a safe environment that enables and encourages kids to explore and participate in activities such as fishing, swimming, archery, horseback riding, nature trails, and more. Mastering a new skill, or simply trying something new, Camp Discovery can help your child build strength, resilience, and confidence.
  • An environment where kids are surrounded by peers who also are living with dermatologic disease, amazing counselors, and a dedicated and caring medical staff – Camp Discovery enables kids to be kids, and simply have fun, in a place where they are understood, they look and feel like everyone else, and their diagnosis is not a barrier.

YOU can impact the life of a child living with dermatologic disease.

Apply using the referral form, visit campdiscovery.org or download the 2023 flier.

CSD on the Hill 2023

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PC Project joined with other skin disease organizations – all members of the Coalition of Skin Diseases (CSD) to advocate for patients. Learn more about the CSD and Advocacy Program. There were three main asks:

  • Advance Medical Research (National Instituted of Health (NIH) Funding)
    • More research activities are needed to continue emerging opportunities to advance our scientific understanding of skin diseases. Without meaningful financial support the development of treatment options will be delayed, and we may loose the next generation of talented young investigators to foreign competition and other fields. To fully capitalize on innovative research projects investigating skin diseases and related conditions, the ask was to increase NIH funding with at least $50.924 billion in FY 2024. That is a 3.465 billion increase from provided funds in FY 2023.
  • Support Increased Prevention and Awareness (Center for Disease Control and Prevention (CDC) Chronic Disease Education and Program (CDEP))
    • The CDC’s National Center for Chronic Disease Prevention and Health Promotion (NCCDPHP) supports several programs that work to increase public awareness and improve professional education. Additional funding will enable CDC to support more proposals in subsequence years. In the interest of growing the program, supporting timely public health efforts, and ensuring the viability and effectiveness of emerging opportunities, the ask was to provide this new program with $6 million for FY 2024.
  • Support Patient Access Legislation
    • Step Therapy practices require patients to try and fail one or more treatments before the insurer covers the treatments originally prescribed. Too often, this leads to delays in proper treatment, worsened health outcomes, and contributes to higher healthcare costs. The Safe Step Act legislation (S.652/H.R.2630) would require insurers to implement a clear and transparent process for a patient or healthcare provider to request an exemption to a step therapy protocol and requires group health plans to grant exemptions if certain protocol is met.
    • The HELP Copays Act (H.R. 830) closes a loophole that allows many employer health plans to deem certain covered drugs as “nonessential,” which means that the insurer will not count any cost-sharing toward the patient’s deductible and out-of-pocket maximum. Your bill will require all private plans to count all cost sharing for covered services to accrue to a patient’s deductible and out-of-pocket maximum.
    • S.127 – Pharmacy Benefit Manager Transparency Act of 2023 bans deceptive unfair pricing schemes; prohibits arbitrary claw backs of payments made to pharmacies; and requires PBMs to report to the FTC how much money they make through spread pricing and pharmacy fees.

PC Project met with the legislative staffers for both Oregon and Utah states.

Met with Francisco Flores-Pourrat, Legislative Assistant to Rep. Lori Chavez-DeRemer (R-OR-05)

Met with Chris Medrano, Legislative Assistant to Sen. Mike Lee (R-UT)

Met with Kannon Butler, Legislative Correspondent for Rep. John Curtis (R-UT-03)

Met with Max Seifert, Legislative Correspondent to Sen. Jeff Merkley (D-OR)

A Congressional Briefing/Luncheon was held on Capitol Hill, April 25th from 12:30-1:30 pm.  The purpose of the briefing was to highlight the various impacts and burdens of Skin Disease.  The goal was to put dermatology on the radar of our federal legislators and their staff, and give them a reason to care about the issues skin disease patient populations face.  Speakers included:

  • Kelly Barta President, Coalition of Skin Diseases
  • Lindsey A. Criswell, M.D., M.P.H., D.Sc. Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) *Virtually
  • Michael Siegel, PhD Executive Director, Pediatric Dermatology Research Alliance (PeDRA)
  • Lisa Butler, MBA Executive Vice President, National Eczema Association (NEA)
  • Becky Strong Outreach Coordinator, International Pemphigus and Pemphigoid Foundation (IPPF)
  • Janice Schwartz Patient Advocate and Executive Director, Pachyonychia Congenita Project (PC Project)
  • Brindley Brooks Patient Advocate and Founder, HS Connect
Watch PC Project’s Executive Director, Janice Schwartz, talk at the Congressional Luncheon April 2023.

There was also time to collaborate with other organizations and learn from each other.

In addition, Janice had a filmed interview to share PC Project’s Story.

Janice talked with Dr. Isaac Brownell from NIAMS about how to advance PC research.

Coalition of Skin Diseases Meeting

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Gathering to learn from and help other patient advocacy groups

PC Project attended the Coalition of Skin Diseases Development Day meeting in conjunction with the American Academy of Dermatology Annual Meeting in New Orleans on May 18, 2023. PC Project met with other leaders of patient advocacy organizations for various skin diseases.

Our leader, Janice Schwartz, was invited to speak about the power and value of our International PC Research Registry. We are always happy to share our knowledge with others about why our patient registry is so important in helping patients receive a correct diagnosis, in understanding our disease, and advancing research for PC. Of course, our registry is powerful in drug development because we have a pool of willing, genetically confirmed patients ready to participate in clinical trials.

In turn, PC Project learned from other organizations and gathered tips and ideas on how to operate even more effectively!

UK Study to Evaluate the Safety & Effectiveness of KM001, a potential treatment for PC

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Kamari Pharma is happy to announce the initiation of a new study in the UK to evaluate the safety and efficacy of KM001-a new potential treatment for PC and PPPK1 patients.

KM001 is a novel, small molecule which acts as TRPV3 inhibitor- a protein that plays essential role in keratoderma and itch development and formulated into a topical cream.

The KM001 cream is already testing in a phase 1b study in Israel, enrolling PC and PPPK1 patients and recently a new study was initiated at Prof Edel O’Toole’s site in the Royal London Hospital. The study is a proof-of-concept study and will enroll up to 10 patients, for a treatment period of 12 weeks.

Kamari Pharma hopes that the results of these studies will be able to support further development of the KM001 topical cream, which may provide a new solution for patients with PC and PPPK1.

Press Release on the Development of QTORIN Rapamycin for Pachyonychia Congenita

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Palvella Therapeutics Announces Pipeline Update on QTORINTM 3.9% Rapamycin Anhydrous Gel (QTORINTM Rapamycin) for Serious, Rare Genetic Skin Diseases with No FDA-approved Therapies

– Pivotal Phase 3 data for the treatment of Pachyonychia Congenita anticipated mid-2023 –

– Phase 2 data for the treatment of Microcystic Lymphatic Malformations anticipated March 2023 –

– Phase 2b data for the prevention of Basal Cell Carcinomas in patients with Gorlin Syndrome anticipated 2Q 2023 –

WAYNE, Pa., February 21, 2023 — Palvella Therapeutics, Inc., a late clinical-stage biopharmaceutical company whose vision is to become the leading rare disease company focused on developing and commercializing novel therapies to treat patients suffering from serious, rare genetic skin diseases in indications for which there are no FDA-approved therapies, today reported progress on its three lead development programs for QTORIN™ rapamycin. The company announced that it has completed enrollment in clinical studies that are investigating QTORIN™ rapamycin for the treatment of individuals with Pachyonychia Congenita (PC) and Microcystic Lymphatic Malformations (Microcystic LM), as well as for the prevention of Basal Cell Carcinomas (BCCs) in individuals with Gorlin Syndrome (GS). There are currently no FDA-approved therapies indicated for the treatment of PC, Microcystic LM, or for the prevention of BCCs in GS.

Palvella also announced preliminary timelines for release of top-line results from each of those studies. For the pivotal Phase 3 VAPAUS study in patients with PC, the company anticipates reporting top-line results in mid-2023; for the Phase 2 Microcystic LM study, the approximate top-line release date is March 2023; and for the Phase 2b GS study, Palvella expects top-line data in the second quarter of 2023.

“Individuals living with serious, functionally debilitating, rare genetic skin diseases deserve access to targeted therapies,” said Wes Kaupinen, Founder and Chief Executive Officer of Palvella. “The rapid enrollment of our three ongoing clinical studies reflects the urgent unmet need in each of these diseases. We are grateful to the investigators and study participants for advancing our understanding of these diseases, and we look forward to reporting top-line clinical results.”

Palvella’s research team, led by Dr. Braham Shroot, developed QTORIN™, a patented and versatile platform designed to generate new therapies that penetrate the deep layers of the skin to locally treat a broad spectrum of serious, rare genetic skin diseases. QTORIN™ rapamycin is the lead product candidate from Palvella’s QTORIN™ platform and is initially under evaluation for three diseases: the treatment of PC and Microcystic LM, and for the prevention of BCCs in GS. These three initial clinical indications for QTORIN™ rapamycin share similarities in the underlying disease pathology whereby the mammalian target of rapamycin, or mTOR, pathway is overactivated leading to chronically debilitating disease burdens for affected individuals.

QTORIN™ Rapamycin for the Treatment of PC: Data expected mid-2023

  • PC is a serious, rare, and chronically debilitating disease caused by genetic mutations in any of the inducible keratin genes 6A, 6B, 6C, 16, and 17 which are regulated by the mTOR pathway; individuals with PC experience extreme pain and difficulty with ambulation, frequently necessitating the use of either ambulatory aids or alternative forms of mobility such as crawling on hands and knees.
  • There are currently no FDA-approved therapies for the estimated 9,300 diagnosed PC patients currently under the management of dermatologists in the U.S.1 QTORIN™ rapamycin has the potential to become the first approved therapy and standard of care for PC.
  • In partnership with Pachyonychia Congenita Project, Palvella completed enrollment of VAPAUS, a pivotal Phase 3 randomized, double-blind, vehicle-controlled study of QTORIN™ rapamycin in approximately 80 patients with PC; the study design incorporates key data and learnings from the completed VALO Phase 2/3 and Phase 3b studies.
  • Orphan Drug and Fast Track Designations from the U.S. FDA have been granted to QTORIN™ rapamycin for the treatment of PC. Orphan Drug Designation has also been granted by the European Medicines Agency (EMA).

QTORIN™ Rapamycin for the Treatment of Microcystic LM: Data expected March 2023

  • Microcystic LM is a chronically debilitating rare genetic disease with overgrowth of lymphatic vessels via the PI3K/mTOR pathway, causing the development of vesicles on the skin that leak lymph fluid (lymphorrhea) and blood, often leading to recurrent serious infections and cellulitis.
  • There are no FDA-approved treatments for the estimated more than 30,000 individuals in the U.S. with Microcystic LM.2 QTORIN™ rapamycin has the potential to become the first approved therapy and standard of care for Microcystic LM.
  • Palvella completed enrollment in an open-label, twelve-week Phase 2 study of QTORIN™ rapamycin in 12 patients with Microcystic LM designed to evaluate safety, pharmacokinetics, and clinician and patient reported efficacy outcomes.
  • Palvella supported a systematic review that identified 16 published studies of off-label use of rapamycin (sirolimus) in the treatment of Microcystic LM; rapamycin yielded improvements in key clinical manifestations, including lymphatic leakage, bleeding, and vesicle bulk, and the preliminary findings are sufficiently compelling to provide an impetus for prospective, controlled trials to elucidate the safety and efficacy of rapamycin for these patients.3
  • Orphan Drug and Fast Track Designations from the U.S. FDA have been granted to QTORIN™ rapamycin for the treatment of Microcystic LM. Orphan Drug Designation has also been granted by EMA.

QTORIN™ Rapamycin for the Prevention of BCCs in GS: Data expected 2Q 2023

  • GS is a serious, rare, and lifelong genetic cancer which can lead to the development of hundreds to thousands of BCCs, which are cancers of the skin, most commonly appearing on the face; GS requires continual lifetime management, including repeated invasive surgical intervention, to avoid progression of BCCs to advanced, locally destructive, and possibly fatal metastatic BCCs.
  • There are no FDA-approved therapies indicated for the prevention of BCCs for the estimated approximately 11,000 individuals in the U.S. with GS.4 QTORIN™ rapamycin has the potential to become the first approved therapy and standard of care for the prevention of BCCs in GS.
  • Foundational research at Yale University and Columbia University has identified mTOR as a key driver of BCC tumorigenesis in GS, and preclinical studies demonstrated that rapamycin significantly reduced total BCC tumor burden when compared to vehicle treatment in a mouse model that closely mimics the accelerated BCC growth pattern of patients with GS;5 targeting inhibition of mTOR may overcome limitations associated with smoothened inhibitors which have been documented to be associated with clinical resistance and substantial tumor recurrence.
  • In partnership with The Gorlin Syndrome Alliance, Palvella has completed enrollment of a randomized, double-blind, vehicle-controlled Phase 2b study to evaluate the safety and efficacy of once daily QTORIN™ rapamycin for the prevention of BCCs in approximately 60 patients with GS.
  • Fast Track Designation from the U.S. FDA has been granted to QTORIN™ rapamycin for the prevention of BCCs in patients with GS.

Recent Corporate Updates

  • Palvella recently announced the closing of its Series D Financing of up to $37.7 million to accelerate the development and support commercialization of QTORIN™ rapamycin. The financing was led by Petrichor and included new investor Gore Range Capital. Existing investors Samsara BioCapital, BVF Partners L.P., Agent Capital, Nolan Capital, and BioAdvance also participated in the financing.

About Palvella Therapeutics

Founded and led by rare disease veterans, Palvella Therapeutics is a late clinical-stage biopharmaceutical company whose vision is to become the leading rare disease company focused on developing and commercializing novel therapies to treat patients suffering from serious, rare genetic skin diseases in indications for which there are no FDA-approved therapies. Palvella’s development model involves partnering with patient advocacy organizations and their patient registries to design accelerated development programs aimed at expediting the introduction of targeted therapies to patients who currently lack any approved treatment options. We are developing a broad pipeline of product candidates based on our patented QTORIN™ platform, with an initial focus on serious, rare genetic skin diseases, many of which are lifelong in nature. Our lead product candidate, QTORIN™ 3.9% rapamycin anhydrous gel (QTORIN™ rapamycin) is currently in late-stage clinical development for Pachyonychia Congenita (PC), Microcystic Lymphatic Malformations (Microcystic LM), and the prevention of Basal Cell Carcinomas (BCCs) in Gorlin Syndrome (GS). QTORIN™ rapamycin has received FDA Fast Track Designation for PC, Microcystic LM, and for the prevention of BCCs in GS.

QTORIN™ rapamycin is for investigational use only and has not been approved or cleared by the FDA or by any other regulatory agency. The safety or efficacy has not been established for any use.

Forward-Looking Statements

This press release contains forward-looking statements concerning the development and commercialization of Palvella’s products, the potential benefits and attributes of such products, and the company’s expectations regarding its prospects. Forward-looking statements are subject to risks, assumptions and uncertainties that could cause actual future events or results to differ materially from such statements. These statements are made as of the date of this press release. Actual results may vary. Palvella undertakes no obligation to update any forward-looking statements for any reason.

References

  1. Gallagher et al. Prevalence of Diagnosed/Highly Symptomatic Pachyonychia Congenita (PC) Patients Managed Annually by US Dermatologists-National Real World Occurrence (RWO) Physician Study. J Dermatol and Dis. 6:1 (2019). https://api.semanticscholar.org/CorpusID:212794328.
  2. Gallagher et al. Annual prevalence estimation of lymphatic malformation with a cutaneous component: observational study of a national representative sample of physicians. Orphanet J Rare Dis 17, 192 (2022). https://doi.org/10.1186/s13023-022-02336-3.
  3. Teng et al. Sirolimus in the Treatment of Microcystic Lymphatic Malformations: A Systematic Review. Lymphat Res Biol (2022). https://doi.org/10.1089/lrb.2021.0103.
  4. Evans et al. Birth Incidence and Prevalence of Tumor-Prone Syndromes: Estimates from a UK Family Genetic Register Service. American Journal of Medical (2010). https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.33139
  5. Kim et al. SOX9 Transcriptionally Regulates mTOR-Induced Proliferation of Basal Cell Carcinomas. J. Invest. Dermatol. 138(8): 1716–1725 (2018). https://doi.org/10.1016/j.jid.2018.01.040.

4L Trophy Driving for PC Awareness

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Maéva et Élisa sont amies et toutes les 2 élèves vétérinaires de Toulouse.

Passionnées d’aventure, elles décident de participer au 4L Trophy.

Pour cela, elles ont besoin d’être sponsorisées pour les divers frais ainsi que pour l’inscription et la préparation de la voiture.

Tout naturellement Maéva, dont la maman est atteinte de la PC, a pensé à notre association afin de la mettre en avant et d’essayer de la faire connaître en déposant des  flyers (décrivant nos symptômes et indiquant nos coordonnées) auprès des différents hôpitaux, cliniques et lieux médicaux qu’elles rencontreront lors de leur périple.

Site web du 4L Trophy

Le Coeur Au Pied is a partnering with Maëva, who is the daughter of PCer (Valérie Curco), and Elisa, two students in veterinary school to participate in the 4L Trophy 2023.

Being a partner will provide Le Coeur Au Pied and PC Project with important media showcase because the logos will be affixed to the car and leaflets will be distributed in the two countries crossed (Spain, Morocco). This rally is very publicized in Europe.

The start is February 15, 2023 and the link will allow you to follow the daily adventures of all the pilots, if you wish.

Raid 4L Trophy Edition 2023 Site

We are grateful to Le Coeur Au Pied and are excited to hear about the experience. Good Luck Maëva and Elisa. Below are images of the 4L car. Can you fine the Le Coeur Au Pied and PC Logos?