Jan 18, 2019 One-stop shops for patient care

Two rare disease information centres in Japan are helping patients find financial relief and new hope for cures

Japan’s rare disease information centres are making it easy for patients to find help

© Getty images/Nikada

Japan has been chasing cures for rare or intractable diseases for half a century. Connecting patient care with research has been a key element of the nation's rare disease strategy. And new initiatives are proving a win-win for both patients and scientists.

Rare diseases, known in Japan as Nan-byo, which translates as ‘difficult+illness’, place a heavy burden on individuals and families who care for them. Recent law reform means that financial support for rare disease patients in Japan is higher than ever and the number of diseases designated by the Ministry of Health, Labor and Welfare is growing, giving patients new hope.

Meanwhile, researchers are attempting to find new and connected cases of rare patient symptoms which, among millions of medical records, can be compared to looking for needles in a haystack.

Two information centres — the Japan Intractable Diseases Information Center and the Information Center for Specific Pediatric Chronic Diseases, Japan — are making it easier for patients to find support and information, while also allowing scientists to connect the dots between symptoms to then help diagnose and treat rare conditions.

A boost for patient support

Since the launch of the Research Project on Treatment for Specified Diseases in the early 1970s, Japan’s Ministry of Health and Welfare has established specialised medical facilities and subsidies to support patients with rare diseases. In return, patients supply their medical data for use in research.

The first diseases the Ministry designated as ‘intractable’ included the inflammatory disorder known as Behçet’s disease and the neurodegenerative subacute myelo-optic neuropathy. These diseases had no known cause, no cure, affected less than 0.1 per cent of the population, resulted in a severely damaged quality of life and required treatment over a long period of time — criteria that are still used in Japan to identify intractable diseases.

Over time, the Ministry’s committees have identified more intractable diseases and more patients. The initial list of four designated diseases in 1972 had grown to 56 by 2009.

But a limited budget meant many patients did not make the list, says Dr Nobuyuki Miyasaka, emeritus professor at Tokyo Medical and Dental University, and member of the Japan Intractable Diseases Research Foundation’s board of directors. “There were strong voices from patients with unapproved intractable diseases seeking a fairer system,” says Miyasaka.

In 2015, the Ministry of Health, Labor and Welfare responded to the call from patients. They introduced the Intractable Disease Health Care Act, which assigned new sources of funding to the intractable disease budget. Medical fee assistance was increased from 10 billion to 220 billion yen per year. Today, there are 331 designated adult intractable diseases in Japan.

Today, there are
331 designated adult intractable diseases
in Japan

The boost resulted in “a stable and sustainable system for social security,” says Miyasaka. “The first purpose is to carry on the research. The second purpose is to cover the medical expenses.”

Financial support for children has also increased. Over 800 diseases are registered in the child database under the Shouman (Syouni-mansei-tokutei-shippei-taisaku) program, which every year supports over 110,000 children under the age of 20 who have both intractable and other chronic diseases.

The care that Japan offers its patients is reflected in the careful consideration taken by the Ministry of Health, Labor and Welfare’s Health Science Council in designating intractable diseases, to ensure the right patients receive benefits.

Patients and their families must seek out doctors specialised to diagnose intractable diseases. These doctors need more than five years of clinical experience, must be certified medical specialists at an academic organisation and undergo regular training courses.

For patients to be considered for intractable disease subsidies, their doctors must complete an application form and enter the patient’s clinical data into a registration system, which is then evaluated by ministry committees.

If a case meets the criteria for an intractable disease, adult patients receive a certificate that entitles them to subsidies that cover 80 per cent of their medical expenses. The medical costs of children under the Shouman program are covered almost entirely by the government.

Expert advice in patients’ pockets

While the Ministry of Health, Labor and Welfare owns and manages the patients’ intractable disease medical data, and its use by research groups, affiliate organisations have adopted the role of educating the public on how they can benefit from the system.

In 1996, the Japan Intractable Diseases Research Foundation, supported by private companies and the Ministry of Health and Welfare, established the Japan Intractable Diseases Information Center, which is a central point of contact for adult patients to receive information.

“The main aim of the centre is to alleviate the worry and anxiety felt by intractable disease patients and their families,” says Miyasaka.

The main aim of
the centre is to alleviate the worry and anxiety felt by intractable disease patients and their families

A website developed by the Foundation allows users, including patients, their families and health practitioners, to search an up-to-date list of designated intractable diseases, their symptoms and current available therapies — all populated by experts and researchers actively working on finding better treatments.

The website also links to forms that patients and their families require to register for intractable disease support and provides contact points for further information.

With over 2.5 million accesses to the website per month, over 70 per cent via smartphones, “it is the largest website in Japan that provides information on intractable diseases”, explains Miyasaka.

An amendment of the Child Welfare Act has enabled a similar resource to be developed for parents of children with intractable diseases. The website of the Information Center for Specific Pediatric Chronic Diseases, Japan allows these parents to search through characteristic symptoms, diagnostic criteria and any current treatment options.

Launched in 2015, the website now receives over 300,000 hits a month; more than half of these from the parents of patients, says Dr Akinori Moriichi, a researcher at the National Center for Child Health and Development, the organisation that administers the website.

Moriichi and colleagues now plan to enrich the website by adding more content for supporting children. He adds that the Shouman program has transformed care for young patients with intractable diseases. “Children with severe conditions, who once could not hope for long-term survival, can now grow up,” he says.

Care for life

With separate systems for adult and child patients, Miyasaka and Moriichi agree there is room for improvement in managing the transition from one care scheme to the other.

When an intractable disease patient turns 20 years old, they need to apply to be covered under the adult registry, which contains less than half the number of diseases designated in the child system. Families with many young patients can be left with high medical costs.

“Since the databases have roots in different government health policies, it is difficult to dovetail them perfectly with each other,” says Moriichi. “However, it will soon be possible to cross-reference them.”

Moriichi and his team are working to improve the transition of children with intractable diseases to adult care. Recently, the Shouman research team discovered that treatments, used for juvenile idiopathic arthritis in Japan since the 2000s, do not cure the disease and so patients require ongoing treatment into adulthood. As a result, the disease was added to the Ministry’s list of designated intractable diseases for adults.

Miyasaka is optimistic that both adult and child intractable diseases registries will continue to grow with financial support and patient education. He adds that new diagnostic technologies are set to stimulate the search even further.

“With improvements in the field of genetics we have identified many diseases with genetic causes,” he says. “Those diseases will need to be registered in future.”

The program-affiliated researchers contributing to this research are from the Tokyo Medical and Dental University and the National Center for Child Health and Development Hospital, Tokyo.


  1. Kanatani, Y., Tomita, N., Sato, Y., Eto, A., Omoe, H. Mizushima, H. National registry of designated intractable diseases in Japan: Present status and future prospects. Neurologia medico-chirurgica 57, 1-7 (2017).| Article

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