28/02/2025
Rare Disease Day 2025, observed on February 28, aims to raise awareness about rare diseases and the challenges faced by 300 million people worldwide living with them. It is an opportunity to highlight the importance of advancing research, improving diagnostics, and ensuring access to treatment for individuals affected by these conditions.
One such solution is personalised medicine, also referred to as precision medicine. This innovative approach uses a patient’s genetic information in the prevention, diagnosis and/or treatment of disease. It aims to tailor healthcare strategies to the individual patient, based on a predicted risk of disease or a predicted response to a given therapeutic strategy.
Personalised medicine parallels the treatment of rare diseases in at least two respects:
Firstly, diagnosis of rare diseases is often reliant on genomic technologies, with 72% of rare diseases being genetic in origin[1]. Personalised medicine, by comparison, has become increasingly reliant on genomic technologies to identify biomarkers which are used to stratify patients into sub-populations.
Secondly, rare diseases affect a small proportion of the population. Although definitions vary, the EU definition of a rare disease is one that affects less than 5 in 10,000 individuals[2]. Personalised medicine is not dissimilar as it involves stratifying patients into small patient sub-groups.
Given these parallels, successful IP strategies for rare diseases can inform IP protection for personalised medicines.
IP protection for methods for patient stratification
Patent protection for patient stratification at the EPO and UKIPO faces two principal obstacles: diagnostic methods are not patentable, and neither are mathematical models and computer programs.
Whilst at first glance it may seem that patent protection cannot be obtained for methods for patient stratification, this is not the case. The exclusion of diagnostic methods at both the EPO and UKIPO is a narrow exclusion. EPO case law indicates that a diagnostic method requires each of the following four steps:
- collection of data;
- comparison of the collected data with standard values;
- finding any significant deviation; and
- attribution to a clinical picture,
where step (i) in particular is performed on the human or animal body[3]. The exclusion cannot be simply avoided by omitting any of the steps where they are implicit in the method. However, the exclusion can be avoided by specifying that the method is ex vivo, by claiming a method of data collection, or by claiming a diagnostic method involving steps (ii)-(iv) from a pre-collected sample. The approach at the UKIPO is analogous to that of the EPO.
These approaches have been successful in the field of rare diseases. For example, European Patent EP3546592B1 covers a method of detecting a marker of amyotrophic lateral sclerosis (ALS), ALS being a rare disease. The data collection step is limited to “measuring the enzymatic activity level of acid sphingomyelinase (ASM) in the sample obtained from the subject” (emphasis added), so is not performed on the human or animal body.
In addition, the exclusion of mathematical models and computer programs is limited to when mathematical models or computer programs are claimed “as such”[4]. This exclusion does not apply if the subject-matter as a whole has technical character. A claim directed to either a method involving the use of technical means (such as a computer implemented method, which involves the use of a computer) or to a device, is considered to have technical character[5]. In addition, computer programs that produce a “further technical effect”, going beyond the normal physical interactions between the program and the computer on which it is run have technical character[6].
These approaches have been successful in the field of rare diseases. For example, European Patent EP3191993B1 in the name of Illumina is directed to detecting repeat expansion of a nucleotide sequence. Diseases caused by unstable repeat expansions include fragile X syndrome, Huntington’s disease, and ALS – all of which are rare diseases. EP3191993B1 claims computer implemented methods, so this subject matter inherently has technical character.
The ability to protect computer implemented methods is of particular importance in both rare disease and personalised medicine given the convergence of artificial intelligence (AI) and machine learning (ML) with life sciences related innovations. WIPO indicates that patent filings in AI-related life and medical sciences grew by 12% between 2013 and 2016[7].
IP protection for therapeutic agents
“Orphan drugs” is the term given to drugs to treat rare diseases. Given the small proportion of the population affected by rare diseases, several jurisdictions, the EU and UK included, have passed legislation to incentivise the development of orphan drugs. The EU Orphan Medicinal Products Regulation[8] and its UK counterpart provides a 10 year period of marketing exclusivity for orphan drugs for diseases that affect less than 5 in 10,000 people, provided there is no satisfactory method of diagnosis, prevention or treatment of the disease the drug treats, or if there is, the drug is significantly better. Orphan drug marketing exclusivity is therefore of interest in personalised medicines where the patient subgroup is less than 5 in 10,000 people.
As for patent protection, it is noted that the ability to gain protection for first and subsequent medical uses at the EPO and UKIPO is likely to be important in the patent strategy of personalised medicines, not least because personalised medicine includes treatment of specific population subgroups with known therapeutic agents. A case study on eculizumab, which is used to treat a number of rare diseases, showed that eculizumab has been profitable for Alexion based on a model of research into new therapeutic indications which allows for filing of patents to these indications to extend exclusivity[9].
It therefore follows that knowledge gained from successful IP strategies for rare diseases may aid strategies for protecting personalised medicines.
This article is for general information only. Its content is not a statement of the law on any subject and does not constitute advice. Please contact Reddie & Grose LLP for advice before taking any action in reliance on it.
[1] https://www.eurordis.org/information-support/what-is-a-rare-disease/
[2] Regulation (EC) No 141/2000
[3] Guidelines for Examination in the European Patent Office, G-II, 4.2.1.3; G1/04
[4] Articles 52(2) and (3) EPC
[5] Guidelines for Examination in the European Patent Office, G-II, 3.3
[6] Guidelines for Examination in the European Patent Office, G-II, 3.6
[7] https://www.wipo.int/edocs/pubdocs/en/wipo_pub_1055
[8] Regulation (EC) No 141/2000
[9] Caetano R et al. (2021) Dynamics of patents, orphan drug designation, licensing, and revenues from drugs for rare diseases: The market expansion of eculizumab. PLoS ONE 16(3): e0247853
