Report: Muscular Dystrophy Medical Research Society Academic Conference held in Matsumoto City, Nagano

Muscular Dystrophy Medical Research Society Academic Conference was held in Matsumoto City, Nagano Prefecture, on October 24-25, 2025.

The overview of the presentations related to FSHD is as follows.

“About the FSHD (Facio-scapulo-humeral Muscular Dystrophy) Patient Association” (Ms. Kawai, FSHD Subcommittee of the Japan Muscular Dystrophy Association / FSHD JAPAN)

FSHD Japan has worked to prevent isolation among patients and families by organizing regular exchange meetings and seminars, and disseminating information on medical care, health, and welfare. We also conduct activities to raise awareness of FSHD in society. We engage in exchanges with patient groups overseas. However, we also face challenges, such as the slow growth in patient registrations for “Remudy” (National Center of Neurology and Psychiatry), the patient registry repository essential for disease research and clinical trials.

FSHD Japan aims to address these challenges and accelerate the development of treatments by serving as a bridge connecting patients and healthcare professionals. We are also committed to promoting patient and public involvement (PPI) in research.

“Recent Trends in FSHD Treatment Development Research: Focusing on Disease Model Animals and Clinical Trials” (Shinshu University, Mr. Yoshizawa)

While momentum for developing treatments for FSHD is growing, no therapeutic drugs currently exist. Developing treatments requires model animals to study therapeutic effects, and it appears many types of FSHD model animals are being used in research. Furthermore, building on such research, clinical trials for certain drugs have already begun overseas, suggesting trials may start in Japan soon.

However, to attract clinical trials, increasing the number of patients registered with Remudy is desirable. It was emphasized that even those with mild symptoms should adopt the mindset of “going to the hospital to help create a treatment,” rather than “not going to the hospital because there is no treatment.” Collaboration between patients, healthcare professionals, and researchers was also highlighted as crucial.

“The Importance of Natural History Studies and Patient/Citizen Participation in Facioscapulohumeral Muscular Dystrophy” (Dr. Matsumura, Osaka Toneyama Medical Center)

Clinical data for FSHD patients is relatively scarce compared to other, more severe forms of muscular dystrophy. This is partly attributed to the high proportion of mild cases in FSHD and the lack of consolidation of patients within specialized institutions. Furthermore, some patients may avoid medical facilities (choosing not to seek care because no treatment exists).

Consequently, we face the difficult challenge that natural history studies to attract clinical trials to Japan are progressing slowly. It was noted that data collection on FSHD by specialized institutions has limitations, making collaboration with patient groups (PPI) increasingly important.

“Relationship Between D4Z4 Repeat Number and Initial Onset Site in Facioscapulohumeral Muscular Dystrophy Type 1” (Dr. Arahata, Omuta Hospital)

Due to time constraints, I was unable to attend the presentation directly, but the abstract contained the following information. A study of 22 FSHD1 patients over the past 10 years found no difference in D4Z4 repeat numbers between those with upper limb-onset and lower limb-onset disease. The mean repeat numbers for patients diagnosed with upper limb-onset and lower limb-onset were 4.9 and 4.1, respectively, showing no significant difference. However, the age of onset was approximately 10 years earlier for patients diagnosed with lower limb-onset.

Other presentations included updates on the patient registry Remudy and discussions on other forms of muscular dystrophy beyond FSHD. Attending the study group gave me the impression that people from various backgrounds, including patients themselves, are working together to confront this disease.

We don't often have the chance to speak about our patient group's activities in front of medical professionals. The doctors listened intently to what we had to say, and some even expressed their willingness to cooperate with the FSHD patient group.

One particularly memorable comment from a physician was, “It is the patients who nurture the doctors.” They explained that no matter how many books one reads or how much guidance one receives from senior physicians, a doctor cannot truly develop without the experience of seeing patients.

FSHD progresses slowly, rarely leads to severe complications, and currently has no established effective treatment. Because of this, patients often tend to avoid going to the hospital while their symptoms are mild. However, for physicians specializing in muscular dystrophy, data from patients with mild symptoms is actually crucial. Understanding the diverse states of patients deepens the physician's understanding of the disease.

I strongly realized that for cultivating physicians capable of researching FSHD, it is vital for patients to seek care at hospitals affiliated with the Council for the Promotion of Advanced Medical Care for Neuromuscular Diseases (CCNMD), where specialists in muscular dystrophy are available.