Minutes of the 67th Designated Intractable Disease Review Committee

The 67th meeting of the Health Sciences Council's Disease Control Committee's Designated Intractable Disease Review Committee was held in a hybrid format (in person and online) on July 7, 2026. No members of the press or general public attended as observers, and the meeting was livestreamed on YouTube. The agenda was "Individual review by disease (addition of new diseases)." The committee discussed seven neurological and muscular diseases, two metabolic diseases, three digestive diseases, one endocrine disease, three blood diseases, three skin diseases, and one bone and joint disease.

Taking into account the definitions of intractable diseases and the requirements for designated intractable diseases described in the reference materials, the committee discussed each disease in terms of patient numbers, disease mechanisms, treatments, prognosis, diagnostic criteria, and severity classifications.

The committee explained that prolonged inflammation caused by chronic active Epstein-Barr virus infection substantially reduces patients' quality of life.

Members commented that spasmodic dysphonia makes communication difficult and can hinder social life.

The shares of patients covered by the severity classifications for the four approved diseases were reported as 100% for brain white matter disease with retinal vascular disorder, approximately 70% for congenital bile acid metabolism disorder (excluding cerebrotendinous xanthomatosis), 50 to 60% for congenital platelet function disorder, and 60% for Schnitzler syndrome. The relevant academic societies had approved the diagnostic criteria and severity classifications for brain white matter disease with retinal vascular disorder, bile acid metabolism disorder, and platelet function disorder; approval by the Japanese Society for Rheumatology had also been obtained for Schnitzler syndrome.

The committee found that three diseases did not qualify as designated intractable diseases: Vici syndrome, because its severity classification includes whether medication is used; stiff-person syndrome, because the classification includes response to immunotherapy and onset as a paraneoplastic syndrome; and NMDA receptor antibody encephalitis, because the effects of immunotherapy and the long-term treatment requirement were at issue.

For large to giant cerebral aneurysms arising in the vertebrobasilar system, spasmodic dysphonia, and palmoplantar pustulosis-associated osteoarthritis, issues included the delineation of only part of a disease and the need for objective diagnostic criteria and a clearer disease concept. For neuronal intranuclear inclusion disease, members noted that the reason for the increase in the share of patients covered by the severity classification, from approximately 30% to 60%, had not been adequately explained.

Apolipoprotein A-I deficiency, genetic insulin resistance, aldosterone synthase deficiency, and idiopathic hypereosinophilic syndrome were identified for reconsideration of the role of existing treatments, descriptions of disease mechanisms, severity classifications using medication, and the share of patients with severe disease.

Primary intrahepatic stone disease and Peutz-Jeghers syndrome were found not to meet the requirements, in light of long-term prognosis, the share of patients with severe disease, and treatment effects, and their approval was deferred. Further review by research groups was requested for chronic active Epstein-Barr virus infection, neuronal intranuclear inclusion disease, palmoplantar pustulosis-associated osteoarthritis, and other conditions, covering disease mechanisms, severity classifications, and disease delineation. Prognostic information for hereditary palmoplantar keratoderma and familial hidradenitis suppurativa remained insufficient, making it difficult to determine whether they met the long-term treatment requirement.