Case Study | 23 July 2025
How a Pharma Company Expanded Globally by Launching a Novel Fabry Disease Therapy in the Rare Disease Market
Posted by : Radhika Pawar
In a highly competitive global pharmaceutical landscape, market differentiation often relies on the ability to detect underserved medical needs and develop targeted solutions. This case study follows the pathway of a mid-sized European pharmaceutical company as it made a strategic decision to step into the rare disease therapeutics segment, particularly targeting Fabry disease. By implementing targeted market research, innovative formulation strategies, and key partnerships, the company not only introduced a successful Fabry disease treatment but also achieved significant growth in revenue and global market share.
An overview:
A mid-tier pharmaceutical firm located in Switzerland sought to diversify its pipeline and move into the niche but high-potential rare disease therapeutics market, specifically focusing on Fabry disease, a genetic disorder that was under-addressed in terms of effective therapies. With an ambitious target to launch a first-of-a-kind enzyme replacement therapy (ERT) and capture 40% of the global market share by 2024, the company partnered with Research Nester to understand entry barriers, optimize product design, and craft a powerful market penetration strategy. We provided an in-depth solution, covering global market landscape analysis, patient demand forecasting, regulatory pathway optimization, and competitor benchmarking to guide product development and launch.
The Story
The Swiss pharmaceutical company had maintained a successful record in general therapeutics for over three decades, primarily in cardiovascular and metabolic disorders. With patent expirations approaching and competition increasing in their primary segments, the leadership recognized the rare diseases segment as a strategic growth field. Fabry disease, an inherited lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A, emerged as a core target due to high unfulfilled needs and the capability for long-term revenue through orphan drug exclusivity.
However, entering the Fabry disease space was not without its challenges, as given below:
Existing therapies were limited but well-established, creating a barrier to market entry.
Enzyme therapies require highly specific biomanufacturing processes and long clinical trials.
The global patient population was small and geographically dispersed, complicating trial recruitment and commercialization efforts. To solve these challenges and grab the opportunity, the company approached Research Nester to conduct a strategic feasibility assessment and long-term commercialization roadmap.
Our Solution:
Research Nester worked closely with the company for a period of six months to deliver a comprehensive action plan.
Market and competitive intelligence: A global study was done to evaluate three factors as mentioned below:
- The prevalence of Fabry disease across North America, Europe, and Asia-Pacific.
- Pipeline and approved treatments, with a deep dive into their mechanisms, efficacy rates, pricing, and market penetration.
- Regulatory landscape and orphan drug incentives across regions.
The findings indicated that although two leading enzyme replacement therapies (ERTs) were available, more than 40% of diagnosed patients continued to express dissatisfaction, citing issues such as frequent infusions, adverse side effects, and limited treatment access. These concerns were particularly visible in Southeast Asia and Eastern Europe.
Product differentiation strategy: Research Nester’s consultants suggested the company design a modified ERT formulation with the following unique features as follows:
- An extended half-life enzyme allowing for monthly infusions rather than biweekly, significantly lowering the treatment burden.
- Lyophilized powder format for room-temperature storage, enhancing accessibility in regions with poor cold-chain infrastructure.
- PEGylation technique to improve drug bioavailability and reduce immune reactions.
This distinction would allow the product to be viewed not merely as another option, but as a meaningful advancement in comparison to existing treatments.
Regulatory roadmap: Navigating orphan drug designation (ODD) and fast-track approval processes was critical to shorten the development timeline.
- Research Nester created a region-wise regulatory dossier preparation checklist.
Helped the firm apply for ODD in the U.S., EU, and Japan, securing benefits like extended exclusivity, tax credits, and reduced review fees. - Suggested adaptive trial designs to accelerate Phase II/III trials, given the limited patient base.
Cross-border expansion strategy: Given the concentration of Fabry disease diagnosis in developed economies and rising awareness in developing countries, Research Nester suggested a stage-wise geographic expansion plan:
- Phase 1: U.S., Germany, France, and Japan prioritized owing to modern diagnosis infrastructure and supportive reimbursement.
- Phase 2: Brazil, India, and Poland markets with rising diagnostic capacity but underpenetrated therapeutics.
Strategic partnerships and licensing: To reduce R&D costs and accelerate go-to-market execution, Research Nester facilitated:
- A co-development agreement with a German biotech firm with expertise in glycoprotein production.
- A licensing deal with a Southeast Asian distributor with rare disease reach.
- Joint participation in global Fabry awareness campaigns with patient advocacy groups, increasing early diagnosis, and treatment referrals.
Results
- The company received orphan drug designation from the U.S. FDA, EMA, and Japan’s PMDA, gaining access to a set of regulatory incentives.
- Phase IIb clinical trials demonstrated a 27% reduction in plasma globotriaosylsphingosine (lyso-Gb3) levels and reported fewer infusion-related side effects, encouraging the therapy's safety and effectiveness.
- The company introduced its Fabry treatment in the top four markets by Q3 2023, attaining 31% of the global market by the end of the year, with predictions to exceed 42% by mid-2024.
- Revenue from the rare disease division jumped by 68%, accounting for 21% of the company’s overall revenue by the end of CY 2023.
- Collaborative licensing deals supported the firm in reducing R&D spending by 22%, while still maintaining full IP rights for selected regions.
Most importantly, the treatment’s monthly dosing schedule and easy transport formulation led to rapid adoption in regions with constrained access to cold-chain logistics, creating a first-mover advantage in several developing markets.
Conclusion
This case highlights how a mid-sized pharmaceutical company entered into the rare disease segment through a comprehensive market study, strategic product differentiation, and a global regulatory outlook. By partnering with Research Nester, the company was able to de-risk its investment, speed up product launch, and generate significant returns through an innovative therapy for Fabry disease.
The success of this initiative not only extended the company's therapeutic portfolio but also placed it as a top leader in patient-centric rare disease innovation. The case demonstrates the growing importance of integrating scientific excellence with smart commercialization strategies in a complex pharmaceutical environment.
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