Beyond the statistical criterion, the rarity of the cancer may also result from and unusual location of the tumor (cornea, tongue, etc.) or from their complexity – for example, linked to a specific mutation. Alternatively, rarity may stem from the patient’s situation (pregnancy, organ transplant recipient, or with an infection such as HIV, etc.). These types of cancers often combine several characteristics.
This is the case, for example, in brain cancers, which are relatively rare and hard to treat. In adults, diffuse glioma is the most common type of malignant brain tumor. Unlike brain tumors considered secondary, which are metastases developing from a cancer located in another organ, gliomas develop from glial cells that surround neurons and support their function.
Metastatic cancer is cancer that has spread from the place where it first appeared to another part of the body.
Beyond the unusual location of the tumor, its incidence is less than five out of 100,000 in the United States5.
Did you know?
Glial cells are found in the neurons’ environment. They account for almost 50% of brain volume, and play a vital role in maintaining homeostasis and protecting nerve tissue by supplying nutrients and oxygen, eliminating dead cells, and fighting pathogens.
Oriana tells the story of her battle with ovarian cancer
Issues shared with rare diseases
Today, one of the struggles for networks of patients with a rare disease is, in fact, to break away from the label “rare.” Because while individually they are rare diseases, cumulatively, they affect hundreds of millions of people6.
The rare disease (including rare cancer) patient network is one that is particularly active and organized, mobilized around three main issues:
- Improving diagnosis, so that treatment can begin earlier, in order to overcome the lack of screening available for these diseases
- Boosting R&D to promote innovation and the development of therapeutic treatments
- Improving access to treatment, accounting for geographical specificities
“Patients with a rare form of cancer face the same challenges as patients with a rare disease. It is important that their treatment be viewed through this same prism, since their needs are often unmet and specific.”
Nicolas Garnier, Chief Patient Officer at Servier
9,000
More than 9,000 rare diseases have been identified to date7
25 million
people are affected by a rare disease, including rare cancers, in Europe8
Did you know?
All pediatric and adolescent cancers are considered rare.
The major challenges that patients with a rare cancer face
The “snowball” effect of rarity
Rare diseases, including rare forms of cancer, are difficult to diagnose because of their rarity. This is due in part to the lack of medical history and the lack of knowledge on the pathology. When few patients are affected by a disease, there will automatically be fewer experts in this field. Ultimately, this means fewer therapeutic treatments and innovations. While the incidence of rare diseases becomes quite commonplace when considered cumulatively, the basic scientific research, clinical studies and approval of new therapies in this area are still limited.
“In order to improve diagnosis, a different medical approach should be adopted. Quite often, health care professionals are trained to identify a disease via a test or from a grid of predefined symptoms, as well as on the basis of probabilities of the disease. However, in rare diseases, it is common for patients to have only some of the conventionally-known symptoms, and they may also have others. This is why, all too often, patients are misdiagnosed as first-line patients.”
Nicolas Garnier, Chief Patient Officer at Servier
The diagnostic odyssey
The fairly lengthy period during which a patient has not benefited from a definitive diagnosis for their disease is called the “diagnostic odyssey.” On average, it is estimated that only half of all rare disease patients have obtained an accurate diagnosis. For more than 25% of patients9, an accurate diagnosis generally takes around 5 years, a length of time that is the direct consequence of the lack of knowledge on rare cancers and the forms they take.
Beyond the patient’s incomprehension and suffering, the diagnostic odyssey also has significant consequences on health care systems: the multitude of consultations, administration of inappropriate medication, etc. These are substantial socio-economic impacts that often remain overlooked.
Unfavorable diagnoses
Late diagnosis also means late management and an often more pessimistic one due to progression of the cancer since appearance of the first symptoms. Today, rare cancers are considered to be responsible for 25% of cancer deaths10. Oftentimes, the prognosis is worse than for patients with a less rare form of cancer.
The geographical challenge
One of the major difficulties is the geographical distribution of patients, who live in very different regions and countries. For example, this complicates recruitment for clinical studies. Should we bring patients together in one place? Should we monitor them remotely? How do we take into account the unique characteristics of each patient? There are so many questions that challenge the relevance of a traditional clinical study.
“For this type of disease, the development program must be adapted and representative of the population known to be concerned. Creating a clinical cohort of patients to be included in a clinical study is complex, as it requires a precise characterization of each patient, as well as harmonization of all patients, according to common clinical and biological characteristics.”
Nicolas Lévy, Professor of Medical Genetics, Scientific Director of Rare Diseases at Servier
And now, what are some possible solutions for rare cancers?
More appropriate clinical studies
Development programs often need to be tailored to the cohort. To define the size, statistical data for the disease in question is now the basis, rather than standards that are unsuitable for this type of disease. For micro-rare and nano-rare diseases, which have an incidence of less than 30 people11, some clinical studies may sometimes involve only one patient.
By reproducing mechanical, chemical and organic processes as they occur in the patient’s body, including at the cellular level, digital twins can offer a second way to meet this challenge. They accurately simulate the behavior of a drug by providing a complete picture of the disease. To this end, Servier signed a partnership in pancreatic cancer and Parkinson’s disease with Aitia, the leader in the development of digital twins.
Developing the diagnostics
As new rare diseases are discovered and clinical cases are combined, the medical history of each of these diseases can be built. This information is essential for identifying common biomarkers and segmenting patient profiles.
“Understanding what we are trying to measure is the first step in developing the right diagnostic tool. Because once we have made an accurate diagnosis of a disease, with a genetic or biological mechanism, whatever it may be, we have already made progress. From there, we can begin to identify elements of the disease mechanism, develop patient management strategies and see how we will develop a therapeutic approach to move toward a drug molecule that will be the most effective and with the fewest possible side effects.”
Nicolas Lévy, Professor of Medical Genetics, Scientific Director of Rare Diseases at Servier
Training experts
In order to improve patient care, governments have encouraged training an increasing number experts in recent years. This is the case for France, which in 2009, developed the “expert center” label granted to institutions that accommodate patients with rare cancers, via the French National Cancer Institute. The Foundation for Rare Diseases addresses the needs of patients with a rare disease with tumor development, but not the rare cancers identified. In such expert centers, the aim is to:
- Create centers of expertise with specific kinds of health care professionals in order to pool their specialties
- Bring patients together to foster information-sharing and a better understanding of disease symptoms and evolution
- Provide answers to questions from patients and their loved ones
- Accelerate the availability of treatments to patients and possibly allow them to be included in clinical trials
“Today, 95%12 of rare diseases do not yet have treatment in any area. This field holds great potential for medical innovation and research innovation in life and health sciences. And it is a great opportunity for researchers as well as for society, and, of course for patients.”
Nicolas Lévy, Professor of Medical Genetics, Scientific Director of Rare Diseases at Servier
As an independent health care player committed to therapeutic progress, we are able to direct our innovation efforts toward specific patient needs. Our goal is to bring real therapeutic innovations to patients with substantial unmet needs.
Learn more about our positioning in oncology
[1] Worldwide cancer data | World Cancer Research Fund International (wcrf.org)
[2] Cancers rares de l’adulte [Rare Adult Cancers], French National Cancer Institute, https://www.e-cancer.fr (viewed in April 2024)
[3] https://www.esmo.org/policy/rare-cancers-working-group/what-are-rare-cancers/definition-of-rare-cancers (viewed in April 2024)
[4] https://www.ined.fr/fr/lexique/incidence-d-une-maladie/ (viewed in April 2024)
[5] Quinn T Ostrom, Mackenzie Price, Corey Neff, Gino Cioffi, Kristin Waite, Carol Kruchko, Jill S Barnholtz-Sloan, CBTRUS Statistical Report: Primary Brain and Other Central Nervous System Tumors Diagnosed in the United States in 2015–2019, Neuro-Oncology, Volume 24, Issue Supplement_5, October 2022, Page 52
[6] https://www.rarediseasesinternational.org/new-scientific-paper-confirms-300-million-people-living-with-a-rare-disease-worldwide/ (viewed in March 2024)
[7] https://www.embl.org/news/science/model-organism-data-rare-diseases/
[8] https://sante.gouv.fr/soins-et-maladies/prises-en-charge-specialisees/maladies-rares/article/les-maladies-rares#:~:text=En%20France%2C%20elles%20repr%C3%A9sentent%20un,un%20an%20et%205%20ans. [Not available in English] (viewed in April 2024)
[9] https://sante.gouv.fr/soins-et-maladies/prises-en-charge-specialisees/maladies-rares/article/les-maladies-rares [not available in English] (viewed in March 2024)
[10] Rare Disease Day 2022: IARC highlights the burden of rare cancers – IARC (who.int) (viewed in April 2024)
[11] Crooke S. Progress in molecular biology and translational science addressing the needs of nano-rare patients – ScienceDirect
[12] https://alliance-maladies-rares.org/nos-combats/ [not available in English]
