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Orphan Drug Designation for an Academia-Driven Pharma Project

Updated: Jan 22, 2023

Just last month, the European Medicines Agency (EMA) granted an orphan drug designation for a treatment against pyridoxal phosphate-responsive seizures. The recipient was ‘Medicijn voor de Maatschappij’ [Medicines for Society], a platform organized by the Amsterdam University Medical Centre. This platform provides an online knowledge resource about rare diseases, carries out projects to make specific medicines available to patients, and conducts research on rare disease legislation and regulation ( This orphan drug designation recipient may thus provide an example of academic-driven pharmaceutical innovation.

Pyridoxal phosphate-responsive seizures are defined as “a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are (…) responsive to treatment with pyridoxal phosphate” (Orphanet; The disease has a prevalence of 1 to 9 patients per 1,000,000 people. The disorder is caused by a deficiency of pyridox(am)-ne 5'-phosphate oxidase (PNPO) and leads patients to have insufficient access to pyridoxal-5 phosphate (PLP or vitamin B6).

To address this deficiency, patients should take a high dose of PLP, which is unavailable in registered and easy-to-administer forms in drug stores and pharmacies. According to the ‘Medicijn voor de Maatschappij’ platform, patients and medical doctors are asking for such pharmaceutical-grade product to be made more widely available ( For a marketable and registered form of PLP, a food supplement needs be developed that contains high doses and has pharmaceutical quality.

The ‘Medicijn voor de Maatschappij’ platform first applied for an orphan drug designation to signal its intentions and to be eligible for discounted regulatory advice. The receipent indicated that it would not use the designation to instigate a monopoly position vis-à-vis the manufacturing and sale of the food supplement. Rather, the platform wants to provide an opportunity for others to step into the market, as long as they provide access to the treatment in a “responsible way” (

The platform collaborates with a pharmaceutical company that will be responsible for the non-clinical side of development. The company has the right facilities and infrastructure to manufacture the product according to good manufacturing practice, and is compliant with the promised chemical composition. For the clinical development, i.e. testing the product in humans, the academic hospital provides a suitable environment.

The initiative can be regarded as an example of both academia-driven development and a social pharmaceutical innovation project, as the academic platform is in the lead in engaging with various partners in novel kinds of collaborations. As such, this case study provides a very valuable real-world opportunity for the application of social pharmaceutical innovation and opens the door to inspire future innovative collaborations for unmet medical needs.


Author: Wouter Boon (PhD)


Photo credit: Ousa Chea (2018). White microscope on top of table [Image].

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