Global advancements in the diagnosis and treatment of rare diseases: Rare Disease Day 2024

Rare Diseases Day is celebrated on the 29th February 2024 and represents the plight of rare disease patients to gain diagnosis and access to suitable treatment. 

Over the past few years, governments, pharma companies, research organisations, and advocacy groups have been working to increase awareness of the burden of rare diseases and encourage more research into the field. 

Diagnosis

Part of the difficulties surrounding treating rare disease is in the initial identification of a rare disease. More than 80% of rare disease are of genetic origin, making them more intricate and difficult to understand. Currently, we do not have enough understanding of the human genome, or data on this, to be able to easily identify rare diseases. 
By collecting more genomic information from around the world, such as in expanded genomic studies on varied populations, and using innovative genomic technologies to better understand the mechanisms of diseases, researchers are hoping to be able to make this path to identification more efficient. 

One university in The Netherlands, concerned by the timeline of 4–5 years for rare disease patients to receive a diagnosis, has started a project whereby they hope to bring this wait time down to merely a single week. 
Radboud University Medical Centre is hoping to use a blood test to identify the rare disease of a patient. 

Lisenka Vissers, part of the Department of Human Genetics and Radboudumc Research Institute for Medical Innovation, stated: “The focus of our research is to find the best way to molecularly diagnose patients with a rare genetic disease. Our ultimate goal is that this is a rapid diagnosis, obtained in a least-invasive way, but also cost-effective for our healthcare system”. 

The team are proposing to achieve this using the latest in sequencing technology: Long-read HiFi. This technology sequences tens of thousands of base pairs to gain a deeper insight into the genome, compared to standard genetic tests. This enables the researchers to sequence large sections of the human genome that were previously inaccessible, meaning that they are much more likely to be able to identify the specific genetic cause of the disease, without multiple rounds of inconclusive testing. 

By reducing the diagnostic time for rare disease patients, they can have access to treatment far sooner, improving their quality of life and health outcomes. 

Treatment

We have seen an increase in the number of orphan and novel drug approvals from the US FDA in 2023, including Elfabrio for the treatment of Fabry disease from Chiesi Global Rare Diseases and Protalix BioTherapeutics, Efanesoctocog alfa for Haemophilia A from Sanofi, and Jaypirca, used to treat Mantle cell lymphoma, developed by Eli Lilly to name but a few. These approvals show how effective the orphan drug designation ruling is for encouraging the development of drugs for rare diseases, and has gone a long way to demonstrating the importance of doing so for many pharmaceutical companies. 

Now, the USA are looking into further legislative developments that can help to progress rare disease research and ultimately help patients of rare diseases. This Rare Diseases Day the House of Energy and Commerce Committee are holding a congressional hearing, aptly named ‘Legislative Proposals to Support Patients with Rare Diseases’, to review 18 legislative proposals that aim to support patients living with rare diseases. The hearing is an integral step in the process of legislature becoming entrenched in the law. 

The proposals include the Better Empowerment Now to Enhance and Improve Treatments (BENEFIT) Act. Part of this Act requires the US FDA to include information on how patient experience data was collected and used in the review process when undergoing a risk-benefit analysis in the framework for a new drug application. Patient centricity is becoming a key consideration in the development of new drugs, and this is especially important when considering rare diseases. 

Other legislative programmes to be discussed include the Accelerating Kids Access to Care Act, Innovation in Pediatric Drugs Act, and the Providing Realistic Opportunity To Equal and Comparable Treatment for (PROTECT) Rare Act, among others. 

Sources:

1. Outsourcing Pharma. The race for answers: How a Dutch university is reducing time to identify rare diseases. [Date accessed 29/02/2024]. www.outsourcing-pharma.com/Article/2024/02/29/Radboud-University-finding-the-best-way-to-diagnose-rare-diseases

2. Parent Project Muscular Dystrophy. Breaking news: rare disease day congressional hearing to address the benefit act. [Date accessed 29/02/2024] www.parentprojectmd.org/breaking-news-rare-disease-day-congressional-hearing-to-address-the-benefit-act/

3. Congress.Gov. Legislative Proposals to Support Patients with Rare Diseases. [Date accessed 29/02/2024] www.congress.gov/event/118th-congress/house-event/116902?s=1&r=21

Hear more about rare disease research in this podcast.