Fondazione Telethon

What Fondazione Telethon does

Fondazione Telethon is an Italian nonprofit research foundation (Ente del Terzo Settore, ETS) founded in 1990 to advance biomedical research toward the diagnosis, treatment, and cure of rare genetic diseases. Headquartered in Rome (Via Varese 16b) with a major operational hub in Milan (Via Poerio 14), the foundation operates two core research institutes — SR-TIGET (San Raffaele–Telethon Institute for Gene Therapy, co-located with IRCCS Ospedale San Raffaele in Milan) and TIGEM (Telethon Institute of Genetics and Medicine in Pozzuoli/Naples) — and funds an additional research institute (Istituto Telethon Dulbecco). The foundation has funded 3,186 research projects across 676 rare genetic diseases and supports 1,958 researchers, primarily in Italy. Its mission explicitly targets ultra-rare conditions that are commercially unattractive to pharmaceutical companies, with 15 gene therapies across its extended pipeline.

The foundation's core technology is ex vivo gene therapy using lentiviral vectors to correct genetic defects in patient-derived hematopoietic stem cells, complemented by proprietary AAV platforms developed at TIGEM — the Dual Hybrid platform and the Intein platform — which together overcome the approximately 5-kilobase packaging constraint of standard AAV vectors. Additional platform capabilities include a standardized lysosomal storage disease development framework (MPS IVA, GLB1-related disorders, alpha-mannosidosis) and the N=1 individualized therapy program for single-patient ultra-rare indications. The flagship commercial product is Waskyra (etuvetidigene autotemcel), approved by both the FDA and the European Commission in December 2025 for Wiskott-Aldrich syndrome, making Fondazione Telethon the first nonprofit to secure marketing authorization for a gene therapy in both jurisdictions; the earlier Strimvelis was approved in Europe in 2016 for ADA-SCID.

The business model is a hybrid nonprofit funding and commercialization structure. Primary revenue comes from public donations, the Italian 5x1000 tax designation, legacies, memorial donations, and a solidarity gift shop. This is supplemented by PNRR public research grants, the broader AFM-Téléthon network (cumulative ~€800m since 1990 across affiliated entities), and licensing/royalty income from approved therapies. Therapies are advanced in-house until commercially viable and then partnered with industry — historically GSK and Orchard Therapeutics for Strimvelis, and AGC Biologics (Milan) for Waskyra manufacturing — while the foundation retains marketing authorization to safeguard patient access (as demonstrated when it reassumed Strimvelis MA from Orchard Therapeutics in 2022). Distribution occurs through direct hospital administration at IRCCS Ospedale San Raffaele, a new ASST Nord Milano territorial care network for international families, and the December 2025 OTXL partnership for US market access. Go-to-market is concentrated on ultra-rare disease patients — by definition a low-volume, high-unmet-need population — supported by donor-driven funding and patient advocacy networks.

Name

Fondazione Telethon

Legal name

Fondazione Telethon ETS

Website

http://telethon.it

Company type

Private

Founded year

1990

Operating status

Operating

Headcount range

51–100 employees

Short description

Italian nonprofit research foundation, founded 1990, developing gene therapies for ultra-rare genetic diseases. Funds ~2,000 researchers across SR-TIGET and TIGEM institutes and became the first nonprofit to secure dual FDA and EMA approval for a gene therapy (Waskyra, December 2025).

Ownership category

akta.pro rank

Product category

Nonprofit Biomedical Research / Gene Therapy Development

NAICS

Research and Development in Biotechnology (except Nanobiotechnology) (541714), Voluntary Health Organizations (813212)

SIC

Biological Products, (No Disgnostic Substances) (2836), Services-Commercial Physical & Biological Research (8731), Services-Health Services (8000)

akta.pro primary industry

Gene Therapy for Rare/Monogenic Diseases (HLAAACAE)

akta.pro secondary industries

Genetic & Genomic Rare Disease Therapeutics (HLAIAIAA), Rare Pediatric & Congenital Disorder Therapies (HLAIAIAN), Disease-Specific Research & Support (e.g., Cancer, Diabetes, ALS) (BPAGACAA), Rare Ophthalmology Disorder Therapies (HLAIAIAK)

Keywords

• Rare disease research
• Gene therapy development
• Nonprofit biomedical foundation
• Ultra-rare genetic diseases
• Advanced therapy medicinal products

Headquarters

HQ city

Milano

HQ country

Italy

HQ region

Europe

Offices4 records

Markets served

GTM type

B2B and B2C

Offering type

Services

Cost components

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

Revenue model

1. Donations and charitable contributions: The foundation raises funds through public donations, 5x1000 tax designation, legacies, memorial donations, and solidarity gifts (e.g., online shop), primarily supporting scientific research on rare genetic diseases. This is the primary funding mechanism enabling therapy development.
2. Gene therapy licensing and commercialization: Fondazione Telethon advances therapies until commercially viable, then partners with industry (e.g., GSK for Strimvelis, AGC Biologics for Waskyra manufacturing) while reinvesting any surplus into further research. Became the first non-profit to achieve marketing authorization for a gene therapy in both EU and US (Waskyra).
3. Public research funding (PNRR): Funding for specific projects, including the lysosomal storage disease platform project, comes from Italy's National Recovery and Resilience Plan (PNRR), supplementing charitable donations for translational research.
4. Patient organization funding (AFM-Téléthon): Généthon (related French nonprofit) received nearly €800m in funding from patient organization AFM-Téléthon since 1990. Fondazione Telethon benefits from its relationship with the broader Téléthon network.

Pricing tiers

Go-to-market motion1 record

Distribution channels4 records

Marketing channels8 records

Core offering

Fondazione Telethon is a non-profit foundation that funds and conducts biomedical research toward the diagnosis, cure, and prevention of rare genetic diseases. It operates two research institutes (SR-TIGET in Milan and TIGEM in Pozzuoli) that develop ex vivo lentiviral and AAV-based gene therapies, with Waskyra (for Wiskott-Aldrich syndrome) and Strimvelis (for ADA-SCID) approved as the first gene therapies ever developed by a non-profit organization. The foundation raises charitable donations, operates public research funding programs, and reinvests licensing/surplus revenues into further rare disease research.

Product overview

Fondazione Telethon's therapeutic portfolio consists of approved gene therapies, platform technologies, and clinical-stage programs targeting rare and ultra-rare genetic diseases. The flagship approved product is Waskyra (etuvetidigene autotemcel) for Wiskott-Aldrich syndrome — the first gene therapy ever approved from a nonprofit sponsor (FDA December 2025, EMA 2025) — alongside Strimvelis for ADA-SCID (EMA 2016). Adjacent to the foundation, TIGEM and SR-TIGET operate two distinct technology platforms: the Dual Hybrid and Intein AAV platforms (via spin-off AAVantgarde) for delivering large genes beyond standard AAV size limits, applied to Usher syndrome and Stargardt disease; and an SR-TIGET lysosomal storage disease platform enabling parallel development across MPS IVA, GLB1-related disorders, and alpha-mannosidosis. The N=1 Program at TIGEM designs individualized therapies for single patients with ultra-rare diseases. These offerings are interconnected through Fondazione Telethon's nonprofit model of bridging early-stage research through to regulatory approval and commercial access.

Differentiator

Problem solved

Functional benefit

Brands

• Waskyra: Ex vivo gene therapy for Wiskott-Aldrich syndrome, the first gene therapy from a nonprofit sponsor approved by FDA and EMA in December 2025.
• Strimvelis

Products and services

• Waskyra (etuvetidigene autotemcel) An ex vivo gene therapy developed by Fondazione Telethon for Wiskott-Aldrich syndrome, an ultra-rare immune disorder affecting approximately 1 in 250,000 live male births. The therapy uses the patient's own stem cells, which are genetically corrected using lentiviral vectors to produce functional copies of the WAS gene, then reinfused to restore healthy protein production, eliminating donor dependency and rejection risk. Approved by both FDA (December 2025) and European Commission.
• Strimvelis (ADA-SCID gene therapy) An ex vivo gene therapy for Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID), developed at SR-TIGET. Strimvelis was the first approved gene therapy for a non-oncological condition outside of a hospital setting. After Orchard Therapeutics discontinued investment in 2022, Fondazione Telethon reassumed the marketing authorization to preserve patient access.
• Charitable donation program (one-time and recurring) The foundation's primary fundraising mechanism, accepting one-time and recurring (monthly/annual) donations from private individuals and corporations through credit card, PayPal, Satispay, and bank direct debit. Supports research funding for rare genetic diseases and offers tax deduction benefits.
• 5x1000 tax designation program Italy's annual tax designation mechanism allowing taxpayers to allocate 5x1000 of their tax liability to the foundation at no cost, leveraging the messaging that every life counts even if the disease is rare.
• Solidarity shop (Regali Solidali) E-commerce storefront (shop.telethon.it) selling solidarity gifts and merchandise, with proceeds supporting the foundation's research activities.
• Legacy giving program (Lasciti Testamentari) Estate planning program allowing individuals to leave legacy bequests (Lasciti Testamentari) to support the foundation's long-term research activities.

Quantifiable outcome

• High survival rates and significant reduction in infection and bleeding risks in Wiskott-Aldrich syndrome patients treated with Waskyra
• +3 more outcomes

Named customers1 record

Segments3 records

Ideal customer profiles4 records

Technology focussed Yes

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

Feature5 records

Partnerships

Seven partnerships are on record, tiered core and minor.

• Orphan Therapeutics Accelerator (OTXL)coreStrategic or Co-development Partner · 15 December 2025Fondazione Telethon and OTXL signed a memorandum of understanding in December 2025 to commercialize Waskyra (etuvetidigene autotemcel) for Wiskott-Aldrich syndrome in the US through a non-profit collaboration. The partnership aims to establish a sustainable market access pathway for ultra-rare disease therapies using a mission-aligned model, leveraging OTXL's investment infrastructure and Fondazione Telethon's therapy development capabilities.
• AGC BiologicscoreOEM/ Whitelabel/ Licensing PartnerAGC Biologics' Milan facility received FDA and European Commission marketing authorization for Waskyra, providing comprehensive manufacturing support including lentiviral vector production, patient-specific cell manufacturing, and regulatory compliance from preclinical through commercial stages. AGC Biologics will continue supporting commercial manufacturing of the therapy.
• IRCCS Ospedale San RaffaelecoreStrategic or Co-development PartnerDecades of research at IRCCS Ospedale San Raffaele in Milan led to the development of Waskyra gene therapy. The hospital serves as the primary site for therapy administration, with Fondazione Telethon maintaining a close institutional relationship through the SR-TIGET institute co-located at the facility.
• P4MLminorStrategic or Co-development PartnerP4ML (UAE-based health innovation company) became a founding member of Orphan Therapeutics Accelerator (OTXL), enhancing its role in accelerating access to ultra-rare disease therapies. OTXL recently partnered with Fondazione Telethon to support Waskyra, linking P4ML to Fondazione Telethon through the OTXL ecosystem.
• AAVantgardecoreOEM/ Whitelabel/ Licensing PartnerAAVantgarde, a spin-off from TIGEM established in 2021, is advancing AAV gene therapy platforms (Dual Hybrid and Intein) developed at TIGEM into clinical stages. The company has treated 15 Usher syndrome type 1B patients and received authorization to begin a Stargardt disease trial in the US and UK. Fondazione Telethon licenses its technology to this spin-off.
• TIGEM (Telethon Institute of Genetics and Medicine)coreStrategic or Co-development PartnerTIGEM, led by Alberto Auricchio, developed two AAV gene therapy platforms (Dual Hybrid and Intein) that overcome the 5kb size constraint of standard AAV vectors. TIGEM is one of Fondazione Telethon's two core research institutes and a key source of the foundation's proprietary gene therapy technology.
• ASST Nord MilanominorImplementation/ SI/ Consulting PartnerFondazione Telethon and ASST Nord Milano established a healthcare network to strengthen territorial reception and care for families arriving from around the world to access gene therapies developed by the foundation and administered at Ospedale San Raffaele.

Scale indicators7 records

Recent moves7 records

Expansion highlights6 records

Broad incumbents

• Spark Therapeutics: Gene therapy pioneer (acquired by Roche) that developed Luxturna for inherited retinal dystrophy — directly comparable to Fondazione Telethon's TIGEM retinal programs and Usher syndrome work via AAVantgarde.
• bluebird bio: Established gene therapy company with approved lentiviral-based therapies for rare diseases (e.g., beta-thalassemia, cerebral adrenoleukodystrophy). Overlapping autologous ex vivo gene therapy modality and ultra-rare disease focus.
• uniQure: Gene therapy company with AAV-based platform developing treatments for rare diseases including Huntington's and hemophilia. Comparable platform-driven rare-disease strategy with established regulatory track record.
• Novartis Gene Therapies: Global pharmaceutical company with approved gene therapies including Zolgensma for SMA — operates at vastly larger scale but provides a benchmark for non-profit-to-commercial handoffs in rare disease gene therapy.

Direct peers

• Orchard Therapeutics: Gene therapy company that previously held Strimvelis marketing authorization from Fondazione Telethon before discontinuing investment. Comparable ex vivo lentiviral gene therapy developer focused on rare metabolic and immune diseases.
• AFM-Téléthon: French parent patient organization funding both Généthon and indirectly Fondazione Telethon. Operates the same non-profit rare-disease research model with a parallel national fundraising apparatus.
• Rocket Pharmaceuticals: Clinical-stage gene therapy company developing RP-L201 for Wiskott-Aldrich syndrome — directly competing with Waskyra in the same indication using lentiviral ex vivo approaches, with established US clinical infrastructure.
• Cystic Fibrosis Foundation: US non-profit patient organization funding rare disease therapeutic development through venture philanthropy, analogous to Fondazione Telethon's mission-aligned research funding and commercialization model.
• Généthon: French non-profit biotech within the AFM-Téléthon network developing gene therapies for rare diseases including Duchenne muscular dystrophy (GNT0004). Closest comparable by structure (non-profit gene therapy developer), funding source (AFM-Téléthon), and disease focus.

Emerging players

• AAVantgarde: Spin-off from Fondazione Telethon's TIGEM institute advancing the Dual Hybrid and Intein AAV platforms commercially. Direct platform-licensee peer developing Usher syndrome and Stargardt disease therapies.

Market position

Strengths5 records

Weaknesses5 records

Competitive moat5 records

Key risks6 records

Key highlights7 records

Customer concentration

• Xx.com/Telethonitalia
• YouTubeyoutube.com/@fondazione.telethon
• Facebookfacebook.com/Telethon.Italia
• LinkedInlinkedin.com/company/fondazione-telethon
• Instagraminstagram.com/fondazione.telethon

Revenue estimate

Valuation estimate

Number of profiles

Profiles1 record

Subsidiaries4 records

Funding overview

Funding rounds

Investors

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M&A

Investments2 records

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Frequently asked questions about Fondazione Telethon