Kerckhaert Luuk, Glijnis Pieter, Linders Annet N, Oosterwijk Cor, Doevendans Pieter A
PLN Foundation, Wieringerwerf, The Netherlands.
VSOP-Patiëntenkoepel voor zeldzame en genetische aandoeningen, Utrecht, The Netherlands.
Neth Heart J. 2025 Jun;33(6):206-210. doi: 10.1007/s12471-025-01961-4. Epub 2025 May 8.
The PLN Foundation, established in 2012, supports about 1700 individuals with a phospholamban (PLN) gene mutation causing severe cardiomyopathy. It aims to cure this rare disease by collaborating with universities, research institutions, and biotechnology companies. However, the foundation often faces challenges in being recognised as an equal research partner, with legal departments and technology transfer offices (TTOs) prioritising institutional interests over the public good, leading to delays and inefficiencies. The scientific culture's 'publish or perish' mentality, patent ownership issues, and bureaucratic ethics review processes further complicate progress. To overcome these barriers, the foundation advocates IP co-ownership, patient leadership, streamlined agreements, provisional ethical approvals, improved research logistics, revised evaluation metrics for scientists, and a shift in TTO strategies towards co-creation. These measures aim to enhance collaboration, accelerate therapeutic development, and ensure the accessibility and affordability of new treatments for rare diseases.
磷酸肌醇蛋白（PLN）基金会成立于2012年，为约1700名因磷酸肌醇蛋白（PLN）基因突变而导致严重心肌病的患者提供支持。该基金会旨在通过与大学、研究机构和生物技术公司合作来治愈这种罕见疾病。然而，该基金会在被视为平等的研究伙伴方面常常面临挑战，法律部门和技术转让办公室（TTO）将机构利益置于公共利益之上，导致延误和效率低下。科学文化中“不发表就出局”的心态、专利所有权问题以及官僚主义的伦理审查程序，进一步使进展复杂化。为克服这些障碍，该基金会倡导知识产权共同所有权、患者主导、简化协议、临时伦理批准、改善研究后勤、修订科学家评估指标，以及技术转让办公室（TTO）的战略转向共同创造。这些措施旨在加强合作、加速治疗开发，并确保罕见病新疗法的可及性和可负担性。
