MEDIPAL Holdings Corporation and JCR Pharmaceuticals announced that Japan's Ministry of Health, Labour and Welfare has granted orphan drug designation to JR-446, an investigational treatment for mucopolysaccharidosis type IIIB (MPS IIIB), also known as Sanfilippo syndrome type B. This designation follows similar approvals from the U.S. Food and Drug Administration in April 2025 and the European Commission in June 2025.
Addressing Critical Unmet Medical Need
MPS IIIB affects an estimated 500 to 1,000 individuals worldwide, causing severe central nervous system symptoms. Despite the dire need, there are currently no approved treatments available for this condition. The rare genetic disorder is caused by pathogenic mutations in the NAGLU gene, which encodes a lysosomal enzyme involved in the degradation of heparan sulfate.
With the accumulation of heparan sulfate in the central nervous system, individuals with this condition present rapid neurological decline, including sleep disorders, loss of speech, and behavioral changes, which may significantly affect the quality of life of patients and their families.
Innovative Technology Platform
JR-446 was developed using JCR's proprietary J-Brain Cargo® technology and has shown promising non-clinical results in addressing the CNS symptoms of this challenging disorder. The investigational therapy is currently being studied in a Phase I/II trial (JR-446-101) conducted in Japan under a collaboration agreement between the two companies.
Strategic Partnership and Development Plans
In September 2023, MEDIPAL and JCR entered into a licensing agreement in which MEDIPAL will commercialize JR-446 for MPS IIIB outside of Japan. Additionally, MEDIPAL will support JCR in the clinical development of JR-446 in Japan, including the distribution of investigational drugs, disease awareness, and clinical trial advancement.
Regulatory Framework
Under Japan's orphan drug designation system, the Ministry of Health, Labour and Welfare takes special measures to support and promote research activities for the development of drugs for rare diseases. Drugs satisfying specific criteria may be designated as orphan drugs: they must target a condition with an incidence of fewer than 50,000 patients in Japan, or their intended use must be for the treatment of a designated intractable disease.
The drugs should be indicated for the treatment of serious diseases including difficult-to-treat diseases for which there are high unmet medical needs, such as cases where there is no approved medicinal product or higher efficacy or safety is expected compared with an approved medicinal product.
Both companies remain committed to developing a therapy for patients with MPS IIIB as swiftly as possible, representing a significant step forward in addressing this devastating rare disease that currently has no therapeutic options.
