Unrecognized by ENTs: ZENPE, a patient group for rare diseases Large Vestibular Aqueduct Syndrome and Pendred syndrome, marks its 1st anniversary and steps up efforts to eliminate 'three zeros'

NPO ZENPE (Representative: Miwa Oshima, Location: Ota-ku, Tokyo), a patient association for Large Vestibular Aqueduct Syndrome and Pendred syndrome, has marked its first anniversary since its establishment in May 2025. The group has been actively working to increase disease awareness and improve the medical environment, including exhibitions at otolaryngology conferences and policy advocacy to national and local assembly members. On the occasion of its first anniversary, ZENPE reports on its efforts to eliminate the 'three zeros'.

【Why there was no information on this disease】

Large Vestibular Aqueduct Syndrome and Pendred syndrome are rare genetic disorders involving inner ear malformations that can cause progressive hearing loss and dizziness. Due to the scarcity of specialists nationwide, some patients have gone as long as 54 years without a diagnosis, despite symptoms starting at age 3. Previously, there was no patient and family organization in Japan specialized in these diseases.

Information was limited to technical/medical jargon, with almost no practical guidance for daily life for patients and guardians. Patient families frequently express: "When I visited an ENT clinic, they said they didn't know about such a disease," "Even major hospitals said they couldn't treat it, and I didn't know where to go," and "I live in Tokyo but am 'lost' in the medical system. If only we had known sooner..."

【Activities of the past year】

May 2025: Establishment of the NPO. Activities began with advising physicians Dr. Tatsuo Matsunaga, Dr. Masato Fujioka, and Dr. Yuki Seto. Received a grant from the Horse Future Welfare Foundation. Participated in the annual meeting of the Oto-Rhino-Laryngological Society of Japan to raise awareness. June 2025: Held a commemorative event for the establishment. August 2025: Met with national, prefectural, and district assembly members to propose official designation of the diseases as pediatric chronic diseases. September 2025: Received the 'Inochi no Kagayaki Mainichi Encouragement Award' from the Japan Network for Rare Disease Children. October 2025: Held the first organized lecture by lead advisor Dr. Tatsuo Matsunaga.

【What are the 'Three Zeros'?】

ZENPE operates with the mission to eliminate three areas currently at 'zero'.

Zero Information: General information is almost non-existent, making it difficult for patients and families to envision their future. ZENPE uses a doctor-supervised web media to share role-model stories and practical experience for daily life. Zero Treatments/Drugs: There are no fundamental cures or drugs. ZENPE is building a patient registry to deepen cooperation with medical and research institutions, aiming to pave the way for future treatment and drug development. Zero Official Recognition: The diseases are currently not designated as intractable or pediatric chronic diseases, meaning they are excluded from medical subsidies. ZENPE continues to lobby lawmakers to gain designation as a pediatric chronic disease.

【Plans for the second year】

In fiscal year 2026, the group will prioritize:

Construction of a National Medical Network: Creating a list of treatable physicians and hospitals to ensure families can access appropriate medical care. Expansion of the Community: Widening the circle of peer support to ensure patients and families do not feel isolated.

【Organization Profile】 Organization Name: NPO ZENPE (Large Vestibular Aqueduct Syndrome & Pendred Syndrome Patient Association) Established: May 2025 Representative: Miwa Oshima Location: Ota-ku, Tokyo Website: https://zenpe.jp/ Instagram: https://www.instagram.com/zenpe_home/ Contact: pr.zenpe@gmail.com