Rare Disease Day 2026 Symposium" was held
On February 8, 2026, the Japan Pharmaceutical Manufacturers Association (JPMA), the RDD Japan Secretariat*1 , and the Rare Disease Consortium of Japan (RDCJ) co-hosted the "JPMA Rare Disease Day 2026 Symposium" at the Nomura Conference Plaza Nihonbashi (Chuo-ku, Tokyo). The following is a summary of the day's lectures, free discussions and Q&A sessions.
Background of the Meeting
The JPMA Industrial Policy Committee launched the Task Force on Intractable and Rare Diseases in October 2021 to create a society in which people living with intractable and rare diseases and their families can live comfortably. " revealed issues in clinical practice, such as "delay in early diagnosis system" and "lack of treatment options (therapeutic drugs).
The development and provision of therapeutic drugs is an important element directly related to improving patient treatment satisfaction, and is a theme that healthcare professionals, government, patient groups, and pharmaceutical companies must work together to address.
We held this symposium to raise awareness and promote social understanding of rare diseases, and to provide a forum for sharing and deepening discussions on issues surrounding therapeutic drugs and their solutions.
Opening remarks
Mr. Yasunori Yoshida, Executive Director, JPMA
In recent years, the environment surrounding healthcare has undergone significant changes. As society as a whole undergoes structural changes and medical needs continue to diversify, the pharmaceutical industry is being called upon more than ever before to fulfill its dual responsibilities of ensuring a stable supply and creating innovative treatments at the same time. In the field of intractable and rare diseases, in particular, there are still many diseases for which treatment options are limited, and we recognize that the significance of drug discovery and clinical trials is extremely significant. Based on this awareness of these issues, the JPMA has established the Intractable and Rare Diseases Task Force to conduct and publish surveys and recommendations in 2021. We hope that this symposium will be a thought-provoking time to consider the future of rare disease medicine through the intersection of the perspectives of research and development, medical practice, and patients.
Part 1: Lecture
The Task Force on Intractable and Rare Diseases" "Creation of Rare Diseases from the Physician's Perspective
Our task force was established in 2021 and has been working to survey the "problems" of patients and healthcare professionals in the field of rare diseases, organize issues, and compile recommendations for solutions.
At the "Pharmaceutical Visionary Conference 2025 " held last September, 11 participants from nine sectors, including patient groups, the medical field, and government, engaged in dialogue on topics such as how to provide information on clinical trials and patient participation in drug research and development. After the conference, a "Joint Message 2025 " was sent out, stating that diverse stakeholders will engage in frank dialogue and continue creative efforts to resolve issues in order to help the public lead better lives. We in the pharmaceutical industry, as a member of the conference, will continue to participate in the creation of this forum.
Since its inception in 2021, we first conducted a survey on patients' problems and compiled the results by the end of the same year. Last year, we conducted a survey on the problems of healthcare professionals involved in rare diseases to clarify issues felt in the field of basic and clinical research, diagnosis, and treatment development. In February of this year, based on the results of the survey, we published "Proposals for Solving the Problems of Healthcare Professionals.
The recommendations were categorized into five major areas, and actions to be taken.
1. Disease awareness and provision of information to patients: To raise awareness of rare diseases, clarify the boundary between disease awareness and advertising, and develop a framework for sustainable dissemination of information in a manner that does not conflict with regulations.
2. Strengthening early diagnosis systems: To expand mass screening for newborns, we will support the design of a system to add diseases with established treatments as priority test subjects and advocate the necessity of introducing screening.
3. Accelerate research and development: Expand opportunities for patient participation through decentralized clinical trials and digital utilization, build a system to support international joint trials and expansion of conditional approval and priority review systems in the public and private sectors to help eliminate drug lag and loss.
4. Professional human resource development: We will develop educational programs to systematically foster experts and clinical development managers in rare disease areas, build career paths, and work to correct regional disparities.
5. Patient Patient and family support: We recommend strengthening information provision systems that incorporate the perspectives of patients and their families, promoting social understanding, developing economic and psychological support networks, and investing resources in research on full-scale curative therapies.
These recommendations were discussed jointly with the Undiagnosed Diseases Initiative (IRUD), RDCJ, and other professional and patient groups, and are also available on the JPMA website. As a task force, we will continue to engage in dialogue with a wide variety of stakeholders and translate our findings into concrete actions.
Part 2: Lectures
Rare disease drug discovery from a physician's point of view - Example of exon-skipping for muscular dystrophy
The number of patients with rare disease is very limited, while the number of disease types is about 1,000.7,000 This means that there are different constraints in terms of research resources, clinical trial implementation, and business feasibility from those of general diseases. In particular, the delay in diagnosis, the hurdle to definitive diagnosis, and the lack of therapeutic options due to drug lag and loss are major bottlenecks in the field.
We have been consistently promoting exon-skipping therapy using antisense oligonucleotides as a model for Duchenne muscular dystrophy (DMD), from basic research to preclinical and clinical development. The Center first confirmed the efficacy of partial dystrophin recovery in a mouse and dog model, and established a patient registration site " Remudy " to create a cohort of eligible patients. Subsequently, utilizing the drug administration's Pioneer Review Designation System and Early Conditional Approval System, Biltralsen, a therapeutic drug targeting exon 53 of theDMD gene, was approved in Japan and the United States in 2020.
In the Phase II clinical study, 10 subjects were treated with intravenous doses of 40-80 mg/week for 24 weeks, and the highest dose group showed 4.8% dystrophin recovery compared to normal, with a good safety profile. Thus, even a small amount of protein recovery can be expected to improve motor function, which is an important point in rare disease drug discovery. Currently, clinical development of drugs targeting exons 44, 50, and 51 is underway, and we are also considering the development of a multi-exon skipping drug that skips exons 45-55 at once. If these are realized, 30-50% of DMD patients could be eligible for treatment.
However, the next three challenges are: (1) to expand the number of patients to be treated by multi-exon skipping, (2) to optimize drug delivery to reach tissues other than skeletal muscle, and (3) to develop a standardized, non-invasive, repeatable, and highly predictive evaluation system. In particular, we will focus on the use of urine samples that can be collected from patients. In particular, we expect that an individualized drug efficacy prediction system utilizing urine-derived stem cells and iPS cells, which can be harvested from patients, will significantly increase the success rate of clinical development for rare diseases.
Finally, I would like to emphasize the development of a "cross-disease platform" that integrates the flow from basic research to clinical development and implementation by building diagnostic, registration, and evaluation systems and centers of excellence in a cross-disease manner. We believe it is the mission of RDCJ to accelerate drug discovery and implementation for rare diseases as a whole.
Part 3: Lectures
The desperate expectations of families with rare diseases and their hopes for new drugs
When the patient's third son was 3 years old when the patient association was established in 2007, there was limited information on the disease, I still vividly remember the feeling of isolation and anxiety about the future due to the limited information about the disease at that time.
The Association (1) builds connections among patients and their families through regular exchange meetings, (2) publicizes the disease to medical professionals at medical conferences and to the general public through booths at shopping malls, zoos, department stores, and restaurants, as well as through charity goods (clothes, bags, cookies, coffee, etc.), and (3) promotes the "real situation" and challenges directly from doctors, patients, and their families. (3) Feedback from doctors, patients, and their families directly to the medical community through medical conferences on the "real situation" and challenges they face, and educational activities to deepen understanding of the disease. In particular, in a survey conducted since 2017, approximately 40% of respondents indicated that they wake up every night with itching, and we place importance on visualizing such subjective distress and delivering it as a "baton" to those involved in society and development.
And finally, a new drug has been launched. I will be honest. It has only been on the market for a short period of time, and we do not have any concrete improvement data at hand. Most of the families have just started taking the drug, and we have yet to quantify their voices. But significant changes are already taking place. Those of us who used to talk about "how to endure" are now beginning to talk about our future plans, saying, "This medication may allow me to sleep until morning. Data is still to come, but the "cure in the name of hope" is beginning to move in our lives.
We have received the baton of a new drug and are ready to test its effectiveness and provide feedback to you. We believe that this is the best way to repay those who worked so hard on the development of the drug. Drugs are not "finished" when they are made. We are committed to providing the right diagnosis, access to medical specialists, and a safe environment for continued use. We will continue to work together as "the best development partner" to ensure that 2026 will be a turning point in history. We look forward to working with you to ensure that 2026 is a turning point in our history. We look forward to working with you further in the future.
Part 4: Lectures
The state of the drug discovery environment for rare diseases from the government's perspective
In Japan, as of March 2023, there were 143 drugs approved in Europe and the U.S. but unapproved in Japan, 86 of which were "drug-loss" drugs that were not developed in Japan in the first place. In particular, there are many drugs for rare diseases and pediatric use, and due to the increase in clinical trials in the U.S. and China, some companies have begun to remove Japan as a development base in their quest for early approval and market launch. In FY2024, 65% of all clinical trials filed in Japan were international clinical trials, but both the number and percentage of such trials need to be further increased.
The MHLW is currently developing the following concrete measures:
1. Periodic drug loss survey: Monitoring the approval status in Europe and the U.S. to search for items with high medical needs that are being left behind.
2. User interface improvement of the clinical research database (jRCT): Easy access to clinical trial information for patients and medical professionals. We will revamp the search function and display method to make it easier for patients and medical professionals to access clinical trial information.
3. Supporting the introduction of drugs developed overseas in Japan: We will create a one-stop consultation service to facilitate the development in Japan of drugs developed by overseas venture companies.
4. Building a pediatric drug development network: We will strengthen collaboration among specialized hospitals and clinical trial sites and 5. Promotion of clinical research and clinical trials: We will support clinical research and clinical trials in the fields of rare diseases and pediatrics.
5.
Through these measures, we will position Japan as an environment in which clinical trials of international standards can be conducted, and build a social system that facilitates participation in clinical trials. Ultimately, it is the government's responsibility to bring orphan drugs to patients as quickly as possible. I myself will continue to promote public-private partnerships to eliminate drug lag and speed up the implementation of medicines.
Free Discussion and Q&A
The theme of the session was "The Importance of Drugs for Rare Diseases from the Perspective of Drug Discovery, Development, and Access to Clinical Trials," and the speakers engaged in a free discussion, including questions from the audience.
General Moderator:Yukiko Nishimura (President of NPO ASrid / Member of Society for Creating an Accessible Society for All for Clinical Trials)
Panelists: Yasunori Yoshida, Ichiro Tamatomi, Yoshitsugu Aoki, Mari Yoshida, Yasuhiro Araki
1) Discussion
The importance of drugs for rare diseases
・Importance of drugs for rare diseases ・Importance of drugs for rare diseases
・Importance of drugs for rare diseases ・Challenges in drug discovery, research, and access to clinical trials until drugs are "created and delivered" for rare diseases ・Direction of solutions by individual or collaborative efforts by each stakeholder
2) Questions from the audience
What new methods are you considering for patients to obtain clinical trial information?
What difficulties have you encountered in your research using nucleic acid medicine, which is a new technology, and how have you overcome these difficulties?
Please tell us about the difficulties you faced and how you overcame these difficulties.
As a family member of a patient with a rare disease, how did you gather information (through what kind of media)? Based on your experience, is there anything you wish had been available, or anything you wish you could do now?
Finally, we hope that this symposium will serve as a forum for dialogue to create a society in which people living with intractable and rare diseases and their families can live comfortably, and that the circle of efforts will expand to include a variety of stakeholders.
Video Report
(Task Force on Intractable and Rare Diseases, Pharmaceutical Industrial Policy Committee)