February is characterized by a rare singularity: depending on the year, it can be a leap year. For this reason, the last day of this month was chosen as a symbolic nod to rare diseases.
This year, the upcoming February 29th will commemorate World Rare Disease Day, serving as an opportunity to raise awareness about the reality and persistent obstacles of these uncommon conditions.
Rare diseases, affecting fewer than 5 in 10,000 individuals in the population, are estimated to affect 400 million people globally and present a series of challenges for both patients and healthcare professionals. Some key aspects that stand out in this discussion include the lack of research, the need to improve diagnosis, and the importance of enhancing access to treatment. Addressing these challenges is imperative to enhance the quality of life for individuals affected by rare diseases.
Advancing Rare Disease Research: the impact of Investigator-Initiated Trials
For years, pharmaceutical companies have played a significant role in shaping the landscape of clinical research, driving many groundbreaking advancements in medicine. However, rare diseases, due to their low global prevalence, have been challenging for pharmaceutical companies to investigate, resulting in a relative lack of focus on developing trials these rare diseases. Now, we are witnessing a transformation in this landscape with the growing emergence of independent Investigator-Initiated Trials (IITs) [1].
Unlike trials sponsored by pharmaceutical or biotech companies, IITs are typically designed, supervised and evaluated by independent investigators or academic institutions. They are crucial for exploring new hypotheses, studying off-label uses of medications, and investigating rare diseases. IITs are bringing a breath of fresh air to research, introducing new ideas and perspectives that might otherwise remain unexplored.
MEDSIR was born as an independent clinical research company in oncology with the aim of enhancing the quality of life for cancer patients. Providing support to the development of IITs offering resources, infrastructure, and expertise in clinical trial management. With a clearly defined objective, MEDSIR recognizes the obstacles surrounding rare diseases and actively advocates for clinical research in this area.
MEDSIR's commitment in overcoming rare disease challenges
Despite the existence of over 7,000 different rare diseases, the majority lack effective treatments due to the limited research dedicated to better understanding them. According to the National Organization of Rare Diseases (NORD), approximately 95% of rare diseases do not have approved treatments. At MEDSIR, we are dedicated to promote research that includes rare diseases.
Recently, we have initiated the SABINA clinical trial, in which a new molecular therapy (MEN1611) will be tested, alone or in combination with chemotherapy, for the treatment of a rare type of breast cancer called metaplastic carcinoma (MpBC). MpBC comprises only 0.2-5% of invasive breast carcinomas and is associated with poor outcomes and survival [2]. Currently, there are no established therapy, highlighting an urgent and unmet need.
Rare diseases also face the challenge of obtaining accurate and timely diagnoses, which delays initiating appropriate treatment. Data compiled by EURORDIS, the European Organization for Rare Diseases, indicate that the average time between symptom onset and correct diagnosis for a rare disease is 5 years. At MEDSIR, we understand the importance of early diagnoses and treatment. In the ORPHEUS trial, we evaluated the use of immunotherapy (retifanlimab) for treating patients with penile squamous cell carcinoma, a rare condition with 0.1 to 0.8 cases per 100,000 men and with limited treatment options [3]. One of the objectives of this study was to investigate new predictive and prognostic factors that are linked to disease progression and could anticipate tumor responses for timely treatment.
With more than 48 clinical trials conducted, that have treated 2,300 patients, involved 430 researchers and 230 hospitals, and with the funding from more than 30 companies in the pharmaceutical and biotechnology industry, we are committed to support advances in rare diseases research. Rare Disease Day offers an opportunity to consider the needs, challenges, and opportunities faced by individuals affected by these conditions. It is crucial that we sustain a global mobilization concerning the realities of rare diseases and advocate for actions to address key issues.
Bibliography
[1] Bergmann L, Berns B, Dalgleish AG, von Euler M, Hecht TT, Lappin GL, Reed N, Palmeri S, Smyth J, Embacher-Aichorn S, Zwierzina H; Biotherapy Development Association. Investigator-initiated trials of targeted oncology agents: why independent research is at risk? Ann Oncol. 2010 Aug;21(8):1573-1578. doi: 10.1093/annonc/mdq018. Epub 2010 Feb 4. PMID: 20133383; PMCID: PMC8890484.
[2] Reddy TP, Rosato RR, Li X, Moulder S, Piwnica-Worms H, Chang JC. A comprehensive overview of metaplastic breast cancer: clinical features and molecular aberrations. Breast Cancer Res. 2020;22(1):121. doi:10.1186/s13058-020-01353-z
[3] Ferrándiz-Pulido C, de Torres I, García-Patos V. Penile Squamous Cell Carcinoma. Actas Dermosifiliogr.2012;103:478-487
