Evidence map›Paper›PMID 40696833›Full record

ArticleJournal of neuromuscular diseases2025

Report on the rare disease consortium Japan inaugural symposium - July 18, 2023, shonan health innovation park, Japan.

Toshifumi Yokota, Naoto Inukai, Hiroyuki Shibasaki, Harumasa Nakamura, Shinnichi Yokota, Yoshitaka Nakamura, Rikako Yamauchi, Keiko Ishigami, Akitsu Hotta, Hideo Miki and 1 more

Abstract readConference Proceedings
In one paragraph

Article in Journal of neuromuscular diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Toshifumi YokotaDepartment of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.
Naoto InukaiR&D Research, Target Validation Sciences, Takeda Pharmaceutical Company Limited, Kanagawa, Japan.
Hiroyuki ShibasakiJapan Muscular Dystrophy Association, Tokyo, Japan.
Harumasa NakamuraDepartment of Clinical Research Support, National Center of Neurology and Psychiatry, Tokyo, Japan.
Shinnichi YokotaLaboratory for Medicinal Chemistry Research, Shionogi & Co., Ltd., Osaka, Japan.
Yoshitaka NakamuraDiscovery Research Laboratories in Tsukuba, Nippon Shinyaku Co., Ltd, Tsukuba, Ibaraki, Japan.
Rikako YamauchiStrategic Alliance Office, RIKEN, Saitama, Japan.
Keiko IshigamiDepartment of Commercial and Business Development, iPark institute Co., Ltd., Kanagawa, Japan.
Akitsu HottaCenter for iPS cell Research and Application, Kyoto University, Kyoto, Japan.
Hideo MikiDrug Discovery Strategy and Planning Office, C4U Corporation, Tokyo, Japan.
Yoshitsugu AokiDepartment of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The Rare Disease Consortium Japan (RDCJ) is a newly formalized cross-sector initiative launched to address the urgent and growing needs of individuals living with rare diseases in Japan, aiming to support a wide range of rare conditions, including-but not limited to-neuromuscular diseases. RDCJ hosted its inaugural symposium on July 18, 2023, at the Shonan Health Innovation Park. This symposium aimed to address the unique challenges of rare diseases through a collaborative approach involving industry, government, academia, patients, and the community. The event brought together these stakeholders to discuss the current state and future directions of rare disease research and treatment in Japan. The event featured a range of speakers and panel discussions on the state of drug development, patient journeys, and the future of patient-centered healthcare services. Highlights included a keynote on antisense oligonucleotide therapeutics and sessions on patient-centered healthcare, human-centered design in healthcare, and innovative approaches to rare disease treatment. This report provides a detailed overview of the symposium, the key takeaways from each session, and the future directions for RDCJ.

Indexed as

Rare DiseasesHumansJapanPatient-Centered Careantisense oligonucleotidesbiopharmaceuticsgenome-wide association studyhealth policyorphan drug productionpatient advocacypatient-centered carerare diseasestranslational research

Identifiers

PMID40696833
PMCPMC13142825

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.