Treatment for rare diseases – 40 years of innovation

Rare diseases are a group of indications with diverse symptoms and underlying etiologies, which have in common the very feature that names them – their rareness. For a long time, the rarity of such diseases impeded their diagnosis and treatment. Yet the awareness for rare diseases, which in bulk affect some 300 million people worldwide has increased the effort of the medical community and pharmaceutical industries to bring treatments to rare disease patients. Legislative initiatives, such as the 1983 US Orphan Drug Act and 1999 EU Orphan Regulation provide regulatory and economic incentives to drug developers. Together, those initiatives have sparked great progress in the rare disease field catapulting the number of annually FDA approved drugs with an orphan designation drugs from 2 in1983 to 33 in 2020. Notably, those include a comparably high percentage of novel drug modalities, such as gene and cell therapies, highlighting biotech’s willingness to innovate towards curative therapies.

Needle in the haystack – why finding rare disease patients is a challenge

While the general assumption might be that the unmet need of a rare disease will drive the demand for a novel therapeutic, the reality can often look (very) different.

A few rare diseases come with a clear set of symptoms and biomarkers and genetic screening tests. Other rare diseases, despite having a debilitating effect on a person’s quality of life and even life expectancy, can go unnoticed for a long time. Physicians often struggle to piece together the complex set of signs and symptoms into the complete picture of a rare disease. Instead, they offer symptomatic treatments, for example for pain and inflammation that are key symptoms of many rare diseases.

Indeed, while the average diagnosis time in the rare disease field has been estimated to be 4 years, many patients undergo a diagnostic odyssey that takes much longer and puts significant strain on their physical and mental well-being. Next to addressing their disease symptoms, getting the right diagnosis and treatment for their disease can be empowering to patients, making them feel valued and heard, especially if they spent years chasing a diagnosis and a treatment.

Finding rare disease patients – 7 crucial steps

For a drug developing company that brings a novel drug for a rare disease to market, finding the patients who could benefit is key. But how can the drug developer help to cut short the years diagnostic odyssey and fast forward to a treatment for the patient’s rare disease?

For biotechs who don’t have time (and funds), to call any GP in a country to find their patients, we here outline 7 crucial steps for increasing the success of patient finding in the rare disease field.

1. Clearly describe the set of defining symptoms: Highlight a tell-tale symptom or a unique combination of symptoms that are typical manifestations can help to guide physician interviews productively.

2. Define the physician target group: Mapping key points in the patient journey allows to find the right type of specialized physicians who treat specific disease manifestations and will help identify the target patients.

3. Scope the landscape of specialized clinics: Many undiagnosed patients will be referred to specialized clinics at some point in their journey to address organ-specific symptoms or overall immune phenotypes. Clearly scoping all relevant stakeholders at such clinics and raising their awareness for the rare disease in question will help to find patients currently undergoing treatment at such specialized centers.

4. Define the underlying genotype and advocate for the genetic screening: If the underlying genotype(s) is / are known advocating to include the mutations into screening panels at relevant screening centers can be key in finding patients and increasing diagnostic rates.

5. Empower patients through disease awareness: Many patients suffering from rare diseases and their caretakers are actively seeking the source of their disease symptoms and try to find a (curative) treatment. Understanding the needs of the patients as primary stakeholders can help raise awareness, for example through social media campaigns or educational measures such as podcasts, in order to make patients (or their caretakers for pediatric patients) aware of the rare disease that might be the cause of the symptoms they experience.

6. Collaborate with patient advocacy groups: Patient advocacy groups are the extended arm of the patient and can help to bridge the gap between drug makers, physicians, patients and other stakeholders, such as special publications in the field. Collaborating with patient organizations can help to multiply disease awareness through various channels.

7. Employ novel technology: Artificial intelligence (AI) seems like an overabundant buzzword but can be actually helpful in any area in which large amounts of data need to be structured and analyzed. A number of initiatives are now employing AI to patient finding in rare disease and will likely flourish in the years to come.

Successful patient finding in the rare disease area is a win-win for drug makers and patients. Employing the right strategies and finding the right partners is key in maximizing the chances of success for finding your patients and allowing them to benefit from innovative treatments.

If you would be interested in learning more about our services around patient-finding strategies in rare disease, contact the Healthonauts.