Studies in epidermodysplasia verruciformis and Peutz-Jeghers syndrome will measure outcomes for patients whose care rests on expert opinion rather than cohort evidence

WARREN, N.J., Nov. 10, 2026 /PRNewswire/ — Regal Intel, Inc., a 501(c)(3) nonprofit research organization, has received two seed grants to measure what happens to patients with epidermodysplasia verruciformis (EV) and Peutz-Jeghers syndrome (PJS) under surveillance guidelines that have never been tested against outcomes. The awards are donor-funded, administered by the National Organization for Rare Disorders (NORD) and selected through independent external review. They total $65,000 of the $145,000 awarded in NORD’s latest cycle, which the organization announced on October 1, 2026. Sanjay Ahuja, Ph.D., Chief Science Officer of Regal Intel, is principal investigator on both studies.

Both conditions are ultra-rare. Orphanet puts the prevalence of EV below one per million, with more than 200 cases reported in the literature, and the prevalence of PJS at one to nine per million. For the rarest conditions a single institution may see fewer than five patients, which leaves conventional statistical approaches with too little to work with.

Epidermodysplasia verruciformis (EV), 12 months. EV is a lifelong genetic skin condition caused by variants in the TMC6 or TMC8 genes combined with persistent human papillomavirus infection. Patients face an elevated lifetime risk of non-melanoma skin cancer, with published estimates ranging from roughly 30 to 50 percent. The width of that range reflects how thin the evidence is. The literature consists largely of case reports and small series, and guidelines calling for rigorous dermatological surveillance rest on expert opinion rather than cohort outcomes. The real-world execution of those protocols, and the comparative effectiveness of the available treatments, remains unquantified in the United States. The study will produce a first measure of real-world malignancy-free survival in this population.

Peutz-Jeghers syndrome (PJS), 18 months. PJS is a hereditary cancer syndrome driven by germline variants in the STK11 gene. Penetrance approaches 100 percent, but the age at which patients develop serious gastrointestinal complications and malignancies varies widely between individuals. Whether variant type accounts for that variation is unresolved. Smaller studies have associated truncating variants with more severe disease, larger ones have found no such effect, and no confirmed genotype-phenotype correlation is recognized in current guidance. Surveillance is therefore not stratified by variant. The study will correlate specific STK11 variant types with age at first emergency surgery for intussusception and with subsequent cumulative cancer risk.

Neither study can rely on billing codes. HPV subtypes, lesion locations, variant nomenclature and surgical histories are recorded in pathology reports and clinical notes, not in structured fields.

Both studies are conducted using NeuSymbol™, the platform developed by Regal Intel for analysis of longitudinal clinical records. Computation runs on an appliance inside the institution, and records are de-identified in place under the HIPAA Safe Harbor standard before any analysis occurs. No protected health information leaves the institutional firewall.

“Both of these conditions have clear surveillance guidelines and almost no evidence about what actually happens to patients under them,” said Sanjay Ahuja, Ph.D., Chief Science Officer of Regal Intel and principal investigator on both studies. “For Peutz-Jeghers in particular, we treat every patient identically regardless of which STK11 variant they carry, and children are reaching emergency surgery before screening has meaningfully begun. The evidence needed to change that already exists. It is sitting in pathology reports and clinical notes that nobody has been able to read at scale, and reading it without moving patient data out of the institutions that hold it is the part that has been missing.”

“NORD has a long history of supporting rare disease research through seed grants, and that work matters now more than ever,” said Pamela Gavin, Chief Executive Officer of the National Organization for Rare Disorders. “Fewer than 5% of rare diseases have an FDA-approved therapy, and early funding is often what turns a promising idea into progress. Every grant is an investment in hope for families waiting for answers.”

“Rare disease guidelines still largely treat a gene as a single entity, when we have known for years that variants within a gene can produce very different clinical courses in different individuals,” said Jerry Vockley, M.D., Ph.D., FACMG, Division Director of Genetic and Genomic Medicine at UPMC Children’s Hospital of Pittsburgh. “Peutz-Jeghers is a clear example. The condition is nearly fully penetrant, but when complications arise varies considerably, and surveillance protocols do not reflect that. Assembling evidence on that question from real clinical records, with proper de-identification and proper governance, is the groundwork that has to happen before anyone can responsibly stratify screening for these families.”

The EV and PJS awards were funded by those patient communities. The other two awards in the cycle went to Dr. Antonio Sommariva, Head of the Advanced Surgical Oncology Unit at the Veneto Institute of Oncology in Padova, Italy, who received $50,000 for research in appendix cancer and pseudomyxoma peritonei, funded by the ACPMP Research Foundation, and to Dr. Giovanna Piovani, Associate Professor of Cellular and Applied Biology at the University of Brescia, Italy, who received $30,000 for research in partial trisomy 6q, funded by Dylan’s Rare Chromosome Dream Team and the partial trisomy 6q community.

About Regal Intel, Inc.

Regal Intel, Inc. is a 501(c)(3) nonprofit research organization based in Warren, New Jersey, working on real-world evidence methods for rare, complex and treatment-resistant conditions. Learn more at www.regalintel.com.

About NeuSymbol

NeuSymbol is a deterministic platform for analyzing longitudinal clinical records, developed by Regal Intel. It reads a patient record as a single picture across all encounters, identifies what is abnormal and how each value is moving, and attaches the supporting observations to every finding. Access is granted to organizations under written agreement. Learn more at www.neusymbol.com.

Media contact

Regal Intel, Inc.
media@regalintel.com

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SOURCE Regal Intel, Inc.