In our initial exploration of “rarefied thinking”, we conducted an analysis of facts and figures, showing the impact of COVID-19 on the numbers of rare disease clinical trials. Next, we explored how the pandemic accelerated the adoption of decentralized trial (DCT) strategies, helping to stem the inequity faced by already underrepresented populations. Now, we investigate further to understand from where the issue stems.
Multiple endocrine neoplasia 1 (MEN1) is a rare inherited pathology that occurs in one of 30,000 people. Scientists have identified hundreds of different mutations of the MEN1 gene that can cause the disorder. It is caused by inactivating germline mutations in the MEN1 gene on chromosome 11 (11q13), encoding the menin protein which is a tumor suppressor protein.
The etiology is unknown in most cases. The most common tumors seen in patients with MEN1 involve the parathyroid gland, islet cells of the pancreas, and pituitary gland. Other endocrine tumors seen in this population include adrenal cortical tumors, neuroendocrine tumors, and pheochromocytomas. Although most tumors in people with MEN1 are benign, approximately 1 of 3 pancreatic neuroendocrine tumors and mediastinal neuroendocrine tumors are cancerous.1
This case study is focused on a targeted search for information on MEN1, assuming the search is conducted by a Spanish born, English proficient healthcare professional living in Spain with a family member recently diagnosed with MEN1. The targeted search was conducted both in English and in Spanish to assess the weight of language on access to information.
A simple search in English for “Multiple Endocrine Neoplasia Type 1” on Google delivers 17.6 million results. It was time-consuming and cumbersome to distinguish reliable or useful information from this search. Results were divided across three different categories:
Some of these organizations link to clinicaltrials.gov, indicating the next logical step would be to look for information about MEN1 clinical studies. This search rendered 15 results. When looking more in depth, only three of these studies were truly interventional ones, and none of them had investigational sites in Spain.
The same simple Google search was performed in Spanish. Here, the search rendered more than 215,000 results—a number still unfeasible for an accurate and useful interpretation. Two websites were identified that released high-quality information in Spanish—Orphanet and FEDER (Spanish Federation of Rare Diseases)—but these were about rare diseases in general. Neither site referred to MEN1. The final approach was to conduct a Facebook search. While this did render three private patient groups, none were Spanish language facing, nor did they include Spanish members.
Our journey searching for MEN1 trials was not unlike what many others may face on the quest for information. Search results varied greatly between the two languages, as did the type of information served by the search engine. Both the English and Spanish search results pulled a variety of advocacy groups (some of which truly focused on the MEN1 community), but the only language in which users could interact was English. This shows the limited availability of information for non-English speaking individuals.
Rare disease clinical trials will continue to be more complex than other therapeutic areas, costing patients more time for research and sponsors additional time and resources for recruitment and site set-up. As long as difficulties in locating information persist, patients will need to be proactive in managing care.
One of the most important lessons the COVID-19 pandemic taught us about clinical trial accessibility, is that research efforts must be aligned to patient needs. Leveraging decentralized clinical trial strategies and showing flexibility in study protocol implementation can reduce patient burden and improve retention—but our responsibilities run deeper.
Healthcare professionals and patient advocacy groups alike must realize that diversity and inclusiveness begin with the dissemination of information in languages other than English.
Es nuestra responsabilidad, como profesionales de la salud y grupos de apoyo a pacientes, el comprender que la diversidad y la inlcusividad comienza con diseminar la información en otros idiomas aparte del inglés
Esther Mahillo, PhD
By improving access to information, patients can be empowered to take a more proactive role in their own care, becoming partners instead of mere participants.
1. Cancer.net. Multiple endocrine neoplasia type 2. American Society of Clinical Oncology (ASCO). https://www.cancer.net/cancer-types/multiple-endocrine-neoplasia-type-1. Accessed June 30, 2022.
Esther Mahillo, PhD, MBA, is Vice President of Operational Strategy and Feasibility at Precision for Medicine in Madrid, Spain. She has more than 25 years of experience in the clinical research arena (22 of them in global oncology trials), and is a master’s program professor at three different universities. In 2015, she was awarded the first prize of the Spanish Society of Medical Oncology contest for her work on the promotion of clinical research.
Precision for Medicine is part of the Precision Medicine Group, an integrated team of experts that extends Precision for Medicine’s therapeutic development capabilities beyond approval and into launch strategies, marketing communication, and payer insights. As one company, the Precision Medicine Group helps pharmaceutical and life-sciences clients conquer product development and commercialization challenges in a rapidly evolving environment.
