PXE

What PXE does

PXE International is a 501(c)(3) nonprofit patient advocacy and research organization founded in 1995 and headquartered in Damascus, Maryland. It serves individuals and families affected by pseudoxanthoma elasticum (PXE), a rare genetic connective tissue disorder, along with clinicians and researchers who care for or study the condition. The organization operates a research and support ecosystem spanning a public information website (pxe.org), the PXE International Registry (registry.pxe.org), a biobank, an ABCC6 gene variant database containing 300+ pathogenic variants, and a portfolio of educational PDF guides covering skin, eye, genetics, and cataract manifestations. The registry is built on the DigitalCabinet platform provided by Ethlen Solutions Limited and supports electronic consent, surveys, file uploads, and personal health record access in compliance with GDPR and HIPAA.

The organization's core business model is donation-based: it provides all services and resources at no cost to patients and families, with stated messaging that 100% of donations go to support and research. It does not sell products or services. Go-to-market is community-led, reaching affected individuals through its website, monthly newsletter (PXEnews), annual international research meetings held since 1997, and an international coordinator network including representation in South Africa and planned convening in Belfast. Its customer segments are primarily PXE-affected individuals and families, with secondary engagement from healthcare professionals, academic researchers, and a research/clinical trial community that uses the registry and natural history data for treatment development.

PXE International plays a structural role in PXE science: Sharon Terry co-authored the original Nature Genetics papers identifying the ABCC6 gene as the cause of PXE in 2000 and is co-inventor on the gene patent, which the organization stewards to ensure diagnostic and research access remains broadly available. The organization also launched the first genetic test for PXE through the federal CETT program in 2003 and convenes researchers, clinicians, companies, and regulators annually to coordinate research progress. Leadership comprises Sharon Terry (President and CEO, also CEO of Genetic Alliance, Ashoka Fellow), Dr. Lionel Bercovitch (Scientific and Medical Director, Brown Medical School), supported by a small staff (1-10) and a board that includes affected family members active in fundraising.

Name

PXE

Legal name

PXE International

Website

https://pxe.org

Company type

Private

Founded year

1995

Operating status

Operating

Headcount range

1–10 employees

Short description

PXE International is a 501(c)(3) nonprofit founded in 1995 that advances research, education, and support for individuals and families affected by pseudoxanthoma elasticum (PXE). It operates a patient registry, biobank, ABCC6 variant database, and convenes an international research community, funded entirely by donations.

Ownership category

akta.pro rank

Product category

Patient Advocacy and Rare Disease Research

NAICS

Scientific Research and Development Services (5417), Individual and Family Services (6241)

SIC

Services-Commercial Physical & Biological Research (8731)

akta.pro primary industry

Companion Diagnostic (CDx) Co-Development Services (biopharma partnerships, clinical strategy) (HLAAAMAB)

akta.pro secondary industries

eTMF & Trial Document Management (HLACAOAF), Site Data Management Support (EDC/Source/SDV Readiness) (HLAGACAL)

Keywords

• Patient advocacy services
• Rare disease research
• Patient registry platform
• Genetic disorder support
• Medical education resources

Headquarters

HQ city

Damascus

HQ country

United States

HQ region

North America

Offices2 records

Markets served

GTM type

B2C

Offering type

Services

Cost components

Personnel, Operations, Technology or R&D, Marketing or Sales, Others

Revenue model

1. Donations and Contributions: PXE International is a 501(c)(3) nonprofit organization that operates entirely on donations. The organization states that 100% of donations go to support and research. Funding comes from individuals and families affected by PXE, private donations, foundation support, corporate support, and government funding.

Pricing tiers

Go-to-market motion1 record

Distribution channels2 records

Marketing channels4 records

Core offering

PXE International operates a patient advocacy and research organization for pseudoxanthoma elasticum (PXE), delivering a participant-facing research registry and biobank, downloadable PDF educational guides covering skin, eye, genetics, and cataracts, a monthly newsletter, and community/research events. All services and resources are provided free of charge to patients and families, funded by donations, and supported by a curated database of more than 300 pathogenic ABCC6 variants used to advance research and treatment development.

Product overview

PXE International operates a unified patient registry and public information platform to support individuals and families affected by pseudoxanthoma elasticum (PXE). The primary digital offering is the PXE International Registry (registry.pxe.org), a participant-facing research platform built on the DigitalCabinet technology. The public website (pxe.org) delivers educational resources, guides, newsletters, and research information. The registry supports electronic consent, surveys, file uploads, and personal health record access for research participants. The organization also produces and distributes educational PDF guides covering skin, eye, genetics, and cataracts topics related to PXE. No separate commercial product modules or add-on offerings are identified.

Differentiator

Problem solved

Functional benefit

Products and services

• PXE International Registry A secure patient registry enabling individuals with PXE to register, provide electronic consent, complete surveys, upload medical records, and participate in clinical research. Built on the DigitalCabinet platform by Ethlen Solutions Limited and used as the central infrastructure connecting affected individuals, families, clinicians, and researchers.
• PXE Guide: Skin A downloadable PDF educational guide covering PXE skin manifestations, symptoms, diagnosis via biopsy, care recommendations, and treatment considerations. Aimed at patients, families, and clinicians and offered free of charge.
• PXE Guide: Eye A downloadable PDF educational guide covering PXE-related eye manifestations and management, made available free of charge to patients, families, and clinicians through the PXE International website.
• PXE Guide: Genetics and Inheritance A downloadable PDF educational guide covering the genetics of PXE, ABCC6 gene variants, inheritance patterns, and genetic testing information, provided free of charge to patients, families, and clinicians.
• PXE Guide: Cataracts A downloadable PDF educational guide addressing cataracts in people with PXE, covering preoperative evaluation, retinal assessment, surgical considerations, and postsurgical monitoring, offered free of charge.
• PXEnews Newsletter A monthly electronic newsletter providing research updates, community news, clinical trial information, and event announcements to registry participants and subscribers. Distributed via email and archived on the PXE International website.

Quantifiable outcome

• Discovery of the ABCC6 gene associated with PXE
• +2 more outcomes

Named customers1 record

Segments3 records

Ideal customer profiles3 records

Technology focussed No

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

Feature3 records

Partnerships

Eight partnerships are on record, tiered core and major.

• Ethlen Solutions LimitedcoreTechnology or IntegrationEthlen Solutions Limited provides the DigitalCabinet platform that powers the PXE International Registry. The platform supports electronic consent, surveys, file uploads, and access to personal records while complying with GDPR, HIPAA, and other applicable regulations. Ethlen acts as the Data Processor, providing technical infrastructure to store and manage participant data securely.
• National Human Genome Research Institute (NHGRI)coreStrategic or Co-development PartnerClaire Driscoll previously served as Director of the Technology Transfer Office at NHGRI, overseeing the Institute's intramural patent and licensing portfolio and managing research collaborations between NHGRI scientists and industry and academic partners. She now returns to support PXE International's work in research collaboration and treatment development.
• Queen’s University BelfastcoreStrategic or Co-development PartnerPXE International is planning a PXE community gathering in Belfast, Northern Ireland, with the main session likely on September 18 at Queen's University Belfast. The meeting will bring together people affected by PXE, families, clinicians, and researchers for research updates and clinical trial readiness.
• University of Stellenbosch (South Africa)majorStrategic or Co-development PartnerAnna-Susan Marais works on the Fetal Alcohol Syndrome Prevention Study conducted by the University of Stellenbosch in collaboration with the University of New Mexico. She also supports individuals in South Africa affected with PXE and their families.
• University of New MexicomajorStrategic or Co-development PartnerCollaborates with University of Stellenbosch on the Fetal Alcohol Syndrome Prevention Study. Anna-Susan Marais, PXE International's South Africa coordinator, is involved in this collaboration.
• University of North CarolinamajorStrategic or Co-development PartnerAnna-Susan Marais also works for the University of North Carolina in addition to her role with PXE International.
• National Institutes of Health (NIH) LaboratoriescoreStrategic or Co-development PartnerPXE International participated in national and international genetics initiatives to access tools, expertise, and infrastructure. Claire Driscoll worked as a biologist in a National Institute of Child Health and Human Development laboratory at NIH before her technology transfer career.
• Brown Medical SchoolcoreStrategic or Co-development PartnerDr. Lionel Bercovitch serves as Professor of Dermatology at Brown Medical School and is a full-time pediatric dermatologist at Hasbro Children's Hospital and Rhode Island Hospital. He conducts clinical evaluations of PXE patients and is actively involved in clinical research projects.

Scale indicators3 records

Recent moves6 records

Expansion highlights5 records

Emerging players

• Global Genes: Global rare disease advocacy organization providing toolkits, patient registry infrastructure (RARE-X), and community support across many rare conditions. Comparable as a registry-platform builder and umbrella advocacy group that competes for biopharma and donor attention in the rare disease space.

Direct peers

• Friedreich's Ataxia Research Alliance (FARA): Single-disease nonprofit advancing research and treatment development for Friedreich's ataxia. Operates a patient registry (FAregistry), natural history studies, and an extensive academic/biopharma research network. Comparable as a rare disease advocacy org with deep research infrastructure and biopharma partnership model.
• National PKU Alliance: Single-disease advocacy organization for phenylketonuria. Maintains a patient registry, funds research, and coordinates with clinicians and industry on treatment development. Comparable as a smaller ultra-rare single-disease nonprofit with a research and education focus.
• Hydrocephalus Association: Single-disease patient advocacy organization for hydrocephalus. Maintains a patient registry, funds research, and supports clinical trial readiness. Comparable as a focused single-condition nonprofit combining registry, research funding, and community education.
• Cystic Fibrosis Foundation: The leading US single-disease advocacy organization for cystic fibrosis. Operates a national patient registry, funds basic and translational research, and has driven major therapeutic development including Kalydeco and Trikafta. Most directly comparable as a mature single-disease nonprofit that combines patient registry, research funding, and drug development stewardship.
• Parent Project Muscular Dystrophy: Single-disease advocacy organization for Duchenne muscular dystrophy. Maintains a patient registry, coordinates with biopharma on clinical trial design and endpoint development, and stewards research investments. Closely comparable in mission structure—affected-family founders, registry, research funding, and clinical trial readiness focus.

Broad incumbents

• National Organization for Rare Disorders (NORD): The largest US umbrella organization for rare disease patient advocacy. Operates the IAMRARE registry platform and provides policy advocacy, research funding, and patient support services across 1,000+ rare conditions. Comparable as the dominant rare disease umbrella that may complement or compete with single-disease organizations like PXE International.
• EURORDIS - Rare Diseases Europe: European umbrella for rare disease patient organizations representing 1,000+ member organizations. Comparable as a multi-disease advocacy and registry platform serving similar patient communities to PXE International's European constituents.
• Genetic Alliance: A broader umbrella organization for genetic and rare disease advocacy. Notably, Sharon Terry serves as President and CEO of both PXE International and Genetic Alliance, so there is direct organizational overlap. Comparable as a multi-disease platform that aggregates registry and advocacy infrastructure for rare conditions.

Others

• EveryLife Foundation for Rare Diseases: US rare disease policy and advocacy nonprofit focused on federal legislative and regulatory issues. Comparable as a rare disease stakeholder that PXE International may align with on policy matters and that aggregates funding influence across disease-specific organizations.

Market position

Strengths5 records

Weaknesses5 records

Competitive moat5 records

Key risks6 records

Key highlights7 records

Customer concentration

• Xx.com/pxe
• Facebookfacebook.com/PXEers
• LinkedInlinkedin.com/company/pxeinternational

Revenue estimate

Valuation estimate

Number of profiles

Profiles10 records

Funding overview

Funding rounds

Investors

Funding detail is available on the Subscription and Enterprise plan.Contact sales →

M&A

Investments

M&A and investment is available on the Subscription and Enterprise plan.Contact sales →

Frequently asked questions about PXE