Pten Research Foundation

What Pten Research Foundation does

PTEN Research Foundation is a UK-registered charity (registered number 11773589, company number 10529899) founded in 2017 and headquartered in Cheltenham, England. It exists to fund and facilitate research into PTEN Hamartoma Tumour Syndrome (PHTS), an ultra-rare genetic condition with no health authority approved therapies. The Foundation's "products" are research grant programmes, clinical trial co-funding, the UK PHTS Patient Registry, the web-based Neurobehavioural Evaluation Tool (NET), a drug repurposing programme with CROs (Evotec, Charles River Laboratories), and patient registry / natural history infrastructure. It is governed by a Board of Trustees chaired by founder Riccardo Zacconi, with day-to-day operations led by Chief Executive Tom Pepper and a small in-house team of directors and scientific project staff.

Its core technology is not a consumer software product but a research-funding and coordination stack: open and targeted grant calls of up to £270,000 per project over 2–3 years, peer review via a Scientific Advisory Board of world-leading PTEN/PHTS experts, joint steering committees with CRO and academic partners, and dedicated registries and outcome-assessment tools (including the FDA-pilot-accepted NET). Underlying research assets include the UK PHTS Registry (Cambridge, Tischkowitz), a 20+ centre European PHTS cohort (Radboud UMC, Hoogerbrugge), a ~600-individual whole genome sequencing dataset (Cleveland Clinic, Eng), and preclinical in vitro/in vivo PHTS models developed with Evotec and Charles River.

Revenue mechanics are those of a UK charity: individual donations processed via the KindLink online donation platform, UK Gift Aid reclaimed from HMRC, and investment income on reserves. Marketing and outreach are primarily content-led via the ptenresearch.org website, quarterly email newsletters (Campaign Monitor), patient organisation partnerships across at least eight countries, and scientific conferences. Customers / beneficiaries split into two groups: (1) PHTS-affected families and individuals who participate in registries and trials and access information resources, and (2) academic and clinical researchers worldwide with MD or PhD credentials who apply for and receive grants. A third, secondary audience comprises pharmaceutical, biotech and CRO partners who co-fund projects, access PHTS expertise, and receive regulatory navigation support for rare-disease drug development.

Name

Pten Research Foundation

Legal name

PTEN Research Foundation

Website

https://ptenresearch.org

Company type

Private

Founded year

2017

Operating status

Operating

Headcount range

1–10 employees

Short description

PTEN Research Foundation is a UK-registered charity that funds and coordinates global research into treatments for PTEN Hamartoma Tumour Syndrome (PHTS). It awards grants to academic and clinical investigators worldwide and convenes a global network of PHTS experts, patient organisations, and industry partners.

Ownership category

akta.pro rank

Product category

Medical Research Funding

NAICS

Voluntary Health Organizations (813212), Scientific Research and Development Services (5417)

SIC

Services-Health Services (8000)

akta.pro primary industry

Health & Medical Research Grantmaking Foundations (BPAGAKAL)

akta.pro secondary industry

Disease-Specific Research & Support (e.g., Cancer, Diabetes, ALS) (BPAGACAA)

Keywords

• Rare disease research
• Medical research funding
• Patient registries
• Clinical trial support
• Philanthropy services

Headquarters

HQ city

Cheltenham

HQ country

United Kingdom

HQ region

Europe

Offices1 record

Markets served

GTM type

B2C

Offering type

Services

Cost components

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

Revenue model

1. Individual donations and philanthropy: PTEN Research receives donations from individuals, channelled through the KindLink online donation platform and via postal donation forms. Major donations (typically £10,000 or more) are handled directly with additional due diligence per UK Fundraising Code of Practice and Proceeds of Crime Act 2002.
2. HMRC Gift Aid: The charity claims Gift Aid from HMRC on eligible donations from UK taxpayers, receiving an additional 25p per £1 donated at no extra cost to donors.
3. Investment income: The charity receives interest from investments as a funding source.

Go-to-market motion1 record

Distribution channels3 records

Marketing channels6 records

Core offering

PTEN Research Foundation is a UK-registered charity (charity number 11773589) that funds and facilitates global research into treatments for PTEN Hamartoma Tumour Syndrome (PHTS), a rare genetic condition. It operates programs across the full research pathway—from basic science and drug repurposing to clinical trials—and convenes a global network of researchers, clinicians, patients, and industry collaborators to accelerate therapeutic development for PHTS.

Product overview

PTEN Research Foundation is a UK-registered charity that operates as a research funding organization rather than a technology product company. The Foundation's primary offerings include research funding programs for PHTS (PTEN Hamartoma Tumour Syndrome), quarterly newsletters, clinical trials support, the Neurobehavioural Evaluation Tool (NET) for remote patient assessment, the UK PHTS Patient Registry for natural history studies, drug repurposing collaborations with CROs, and partnership services for researchers and industry collaborators. These services collectively facilitate the Foundation's mission to fund and facilitate research leading to new treatments for PHTS.

Differentiator

Problem solved

Functional benefit

Products and services

• Research Funding Programs Grants and funding calls that support academic and clinical researchers investigating PTEN Hamartoma Tumour Syndrome (PHTS) across the full research pathway, from basic science to translational studies.
• Clinical Trials Program Program supporting the design, set-up, and conduct of clinical trials for PHTS treatments, including partnerships with contract research organisations and patient recruitment via registries.
• UK PHTS Patient Registry A registry of UK-based individuals living with PHTS that captures clinical and genetic data to support natural history studies, trial recruitment, and patient outreach.
• Neurobehavioural Evaluation Tool (NET) A digital neurobehavioural assessment tool developed to evaluate the cognitive and behavioural phenotype associated with PHTS, accepted into an FDA pilot programme.
• Drug Repurposing Program A program screening existing approved drugs for activity against PTEN-related disease mechanisms, with the goal of accelerating affordable, near-term therapeutic options for PHTS patients.
• Research Strategy Consulting Strategic research support and consulting provided to academic groups, biotechs, and pharma collaborators working on PTEN, drawing on the Foundation's Scientific Advisory Board and global PHTS expert network.

Quantifiable outcome

• Everolimus clinical trial (NCT02991807) completed December 2021, enrolling 46 children and adults aged 5–45 years with PHTS and cognitive symptoms. Well tolerated but further studies needed.
• +5 more outcomes

Named customers2 records

Segments3 records

Ideal customer profiles4 records

Technology focussed No

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

Integration3 records

Partnerships

Eleven partnerships are on record, tiered core and minor.

• John Carroll University (Professor Thomas Frazier)coreStrategic or Co-development Partner · 1 February 2021PTEN Research funded Professor Thomas Frazier at John Carroll University, Ohio, USA, to develop and validate a web-based neurobehavioural evaluation tool (NET) and webcam-collected performance measures for PHTS. Project completed September 2024. The NET tool was accepted into the FDA Rare Disease Endpoint Advancement Pilot Programme in 2025.
• EvoteccoreStrategic or Co-development Partner · 1 October 2020PTEN Research partnered with Evotec (headquartered in Hamburg, Germany) to develop preclinical in vitro and in vivo models of PHTS focused on developmental delay and autism, and to undertake drug repurposing studies targeting the PI3K/AKT/mTOR pathway. Joint steering committee oversight with independent expert input and Foundation board oversight. Project completed Q1 2026 with published results in iScience.
• Charles River LaboratoriescoreStrategic or Co-development Partner · 1 October 2020PTEN Research partnered with Charles River Laboratories (headquartered in Wilmington, MA, USA) to develop preclinical models for vascular anomalies and tissue overgrowth in PHTS, testing existing PI3K pathway modulators. Managed via joint steering committees with PTEN Research leadership and independent experts. Project completed Q1 2026 with a publication in preparation.
• Cleveland Clinic Genomic Medicine Institute (Professor Charis Eng)coreStrategic or Co-development Partner · 1 September 2020PTEN Research funded a whole genome sequencing project led by Professor Charis Eng at the Cleveland Clinic Genomic Medicine Institute, USA, on approximately 600 individuals with PHTS to identify genomic modifiers predictive of clinical outcomes. Work completed following Prof Eng's passing in August 2024, with key results published and additional publication in progress.
• Radboud University Medical Center (Professor Nicoline Hoogerbrugge)coreStrategic or Co-development Partner · 1 January 2020PTEN Research funded Professor Nicoline Hoogerbrugge at Radboud University Medical Center, Netherlands, to study cancer outcomes in a European PHTS cohort from over 20 centres, assessing prognosis and treatment responses. Project completed with multiple publications including cancer risk and treatment outcome studies.
• Ohio State University (Dr Peter Stanich)coreStrategic or Co-development Partner · 1 August 2019PTEN Research funded a clinical trial (NCT04094675) led by Dr Peter Stanich at Ohio State University, USA, testing sirolimus for colon polyposis in PHTS. Trial completed June 2025 with polyp reduction observed in participants completing the study.
• Boston Children's Hospital (Professor Mustafa Sahin)coreStrategic or Co-development Partner · 1 June 2017PTEN Research funded a clinical trial (NCT02991807) led by Professor Mustafa Sahin at Boston Children's Hospital, USA, studying whether everolimus could improve cognitive difficulties in 46 children and adults aged 5–45 years with PHTS. Trial completed December 2021 with results published in Human Molecular Genetics.
• KindLinkminorOthersKindLink serves as PTEN Research's online donation processing platform. Donors are directed to KindLink to make charitable donations, which are then transferred to the Foundation. KindLink also provides the charity with donor personal information to process Gift Aid claims from HMRC.
• Campaign MonitorminorOthersCampaign Monitor manages the circulation of PTEN Research's newsletter on behalf of the Foundation. Subscriber personal information (names, contact details) is shared with Campaign Monitor for this purpose.
• University of Cambridge (Professor Marc Tischkowitz)coreStrategic or Co-development PartnerProfessor Marc Tischkowitz at the University of Cambridge leads the UK PHTS Patient Registry, established with PTEN Research funding. The registry collects medical records, blood samples, and tumour biopsies from consenting PHTS patients across the UK to study natural history and support future clinical trial recruitment.
• PHTS Patient Organisations networkcoreStrategic or Co-development PartnerPTEN Research maintains relationships with PHTS patient organisations including PTEN UK & Ireland, PTEN Foundation (USA), Association Syndrome de Cowden (France), CoBaLD (Germany), PTEN Italia, Stichting PTEN België/Nederland, PTEN Turkiye, PTEN World, and NORD. These organisations provide networking, information, and patient recruitment support for research.

Scale indicators3 records

Recent moves6 records

Expansion highlights5 records

Broad incumbents

• Children's Tumor Foundation: US-based charity funding and driving research into neurofibromatosis, with an established NF Drug Therapy Initiative and clinical trial network. Comparable as a larger rare-disease research foundation model with patient registries, industry partnerships, and FDA-validated outcome measures.
• Cystic Fibrosis Trust: UK's leading cystic fibrosis research and support charity. Comparable as a UK-registered rare-disease charity with combined research funding, clinical trial infrastructure, and patient community engagement, though at materially larger scale than PTEN Research.
• Tuberous Sclerosis Association: UK charity funding research and supporting families affected by tuberous sclerosis complex (TSC), which shares mTOR-pathway biology with PHTS. Highly comparable as a UK-domiciled rare-disease research grantmaker with a Scientific Advisory Board structure and CRO partnerships.
• National Organization for Rare Disorders (NORD): US-based umbrella rare-disease advocacy and research support organisation. Comparable as a sophisticated rare-disease operator with research grant programmes, FDA engagement, and patient registry infrastructure that PTEN Research navigates alongside via partnerships.

Emerging players

• Gorham's Disease & Lymphangiomatosis Alliance: Alliance supporting research into lymphatic and bone-related rare diseases, including overgrowth disorders that share PI3K pathway biology with PHTS. Comparable as a small rare-disease patient-and-research organisation operating internationally.
• SWAN UK (Syndromes Without A Name): UK-based charity supporting families of children with undiagnosed genetic conditions. Comparable as a UK rare-disease charity that maintains a patient community and engages with research networks, though its research-funder role is more limited than PTEN Research's.
• MyAware: UK charity supporting people with myasthenia gravis, Lambert-Eaton myasthenic syndrome and related conditions, including research funding. Comparable as a UK-registered small rare-disease charity combining research grants with patient support services.

Direct peers

• International Rett Syndrome Foundation: US-anchored rare-disease research funder for Rett syndrome with international reach and a stated focus on translational pipelines and clinical trial readiness. Direct peer in operating model: condition-specific foundation funding basic through clinical research and partnering with industry.
• PTEN UK & Ireland: UK patient support charity for individuals and families affected by PHTS. A direct peer in serving the same PHTS patient community and cited by PTEN Research as a partner organisation; differs from the Foundation in being patient-services oriented rather than research-funding oriented.
• PTEN Foundation: US-based patient organisation dedicated to PTEN Hamartoma Tumour Syndrome. Direct peer to PTEN Research Foundation because both are condition-specific organisations serving the same PHTS community, with coordinated fundraising and patient engagement but a primarily US rather than UK operating remit.

Market position

Strengths5 records

Weaknesses5 records

Key risks6 records

Key highlights7 records

Customer concentration

Compliance3 records

Revenue estimate

Valuation estimate

Number of profiles

Profiles8 records

Funding overview

Funding rounds

Investors

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M&A

Investments

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Frequently asked questions about Pten Research Foundation