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Pachyonychia Congenita Project: Advancing Research and Drug Development through Collaboration.

Janice N Schwartz¹, Holly A Evans¹, Edel A O'Toole^2,3

¹Pachyonychia Congenita Project, Salt Lake City, Utah, USA.

The Keio Journal of Medicine

|December 10, 2023

Summary

Pachyonychia Congenita (PC) is a painful skin disorder caused by keratin gene mutations. PC Project unites global stakeholders to advance research and develop treatments for this rare condition.

Keywords:

blisters pachyonychia congenita pain palmoplantar keratoderma patient advocacy

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Area of Science:

Dermatology
Genetics
Rare Diseases

Background:

Pachyonychia Congenita (PC) is a rare, debilitating skin disorder.
It is characterized by painful nail dystrophy and skin abnormalities.
Genetic mutations in keratin genes (KRT6A, KRT6B, KRT6C, KRT16, KRT17) cause PC.

Purpose of the Study:

To describe the Pachyonychia Congenita Project (PC Project) and its role in patient advocacy.
To highlight the organization's programs: International Pachyonychia Congenita Consortium (IPCC) and International Pachyonychia Congenita Research Registry (IPCRR).
To emphasize the goal of advancing research and drug development for PC treatments.

Main Methods:

Patient advocacy and support.
Global collaboration through consortium and research registry.
Facilitating connections between patients, researchers, physicians, and industry.

Main Results:

Established an international network for PC patients and stakeholders.
Provided comprehensive patient support and diagnostics.
United diverse groups to accelerate research and drug development.

Conclusions:

PC Project is a key organization for advancing PC research and treatment.
Collaboration is essential for addressing rare genetic skin disorders like PC.
The organization aims to improve the lives of individuals with Pachyonychia Congenita through dedicated programs and global partnerships.