武田、マイクロソフト、EURORDISが希少疾病患者に関する行動計画を発表

AsiaNet 77505 （0262）

【ニューヨーク、ブリュッセル2019年2月20日PR Newswire＝共同通信JBN】

＊行動計画は診断までの時間短縮のサポートを提言

＊Global Commissionの提言はテクノロジーを活用し、希少疾病の診断オデッセイの重要な要素に対処するための3つの解決策ルートに重点

＊希少疾病患者は、高度な医療システムを有する国でも平均で5年かかる可能性がある正確な診断を求めて複雑な医療システムの中を移動して苦労し、確定診断がつかないままである

武田薬品工業株式会社、マイクロソフト、および800超の希少疾病患者組織のアライアンスであるEURORDIS-Rare Diseases Europeが共同で議長を務めるGlobal Commission to End the Diagnostic Odyssey for Children（以下、「Global Commission」）は20日、希少疾病患者の診断に対する障壁に対処するリポートでただちに実施可能な提言（https://c212.net/c/link/?t=0&l=en&o=2380032-1&h=3969174704&u=http%3A%2F%2Fglobalrarediseasecommission.com%2Freport&a=recommendations ）を発表した。

Global Commissionの共同議長であるShire（現在、武田薬品工業）、マイクロソフト、EURORDISは2018年、希少疾病コミュニティーに影響を与える複雑な課題の解決を支援するため、力を合わせて、患者支援者、医師、その他の専門家の学際的グループを一本化した。Global Commissionはこの1年間に患者、家族、他の専門的助言者からの意見を集めて、希少疾病の診断タイムラインを短縮するための解決策を導く重要な知見を得た。ロードマップの提言は以下の3つの解決策ルートに集約することができる：

1.患者と家族を力づけること：医療関係者が一見無関係にみえる症状を結び付け、追加検査について調べ、医師とともに正確な診断を実現するためのツールを開発する機会をつくり出す。

2.第一線プロバイダーの装備：機械学習テクノロジー、専門家レベルの指導、遺伝子検査の機会などの解決策を通じて、希少疾病の可能性がある患者を迅速かつ効果的に特定し、適切な行動をとるための知識とツールを医師に提供する方法を検討する。

3.遺伝子コンサルテーションの再形成：報告方法の標準化や、より多くの患者へのアクセス向上のための遠隔医療の活用など、医療遺伝学者が優先患者をより迅速に認識できるようにするための革新的な方法を特定する。

武田の最高メディカル責任者でGlobal Commission共同議長のウォルフラム・ノサフト医学博士は「6000以上の識別された希少疾病が存在し、その大半は小児期に始まり、患者の40%は2回以上誤診されている。希少疾病患者の擁護者として、われわれは世界中の3億人超の患者にとり診断までの時間を短縮するための本当の解決策を概説してきた」と語った。（注1、2、3）

EURORDIS-Rare Diseases Europe最高経営責任者（CEO）でGlobal Commission共同議長のヤン・ルカム氏は「診断への道のりが長すぎることは、健康、生存、幸福、そして希少疾病患者と家族のアイデンティティーそのものに影響を与える最大の課題の1つである。このリポートは、遺伝的およびデジタルな最先端の進歩の上に様々な関係者を動員する具体的な方針と技術的行動を特定している」と述べた。

Global Commissionは、解決策実現のための3つのパイロットプロジェクトを支援し、そのメンバーの専門知識を活用し、イノベーションの限界を押し広げるべく志を同じくするパートナーを関与させている。パイロットプログラムは、1）症状パターンを認識するための多元的機械学習、2）「インテリジェントトリアージ」および臨床遺伝学者による仮想パネル・コンサルテーションのためのコラボレーションツール、3）安全確実な患者登録と、ブロックチェーンなどの新興テクノロジーを使う可能性もある希少疾病パスポートの開発－である。

Microsoft Worldwide Healthの最高メディカル責任者兼上級ディレクターでGlobal Commission共同議長のサイモン・コス氏は「われわれは、テクノロジーが「希少」の壁を乗り越えるのに役立つ無限の機会を提供するとみている。そして残念なことに「希少」はしばしば「気付かれない」を意味している。われわれの提言の多くは、テクノロジーが解決のために独自に装備されているという希少疾病内の明確な課題に対処する」と語った。

Global Commissionはまたロードマップの中で、希少疾病が国際公衆衛生上の優先事項として認められるための世界的な政策枠組みの重要性を強調している。特定のソリューションへの道筋をサポートし可能にすることを目的とした政策提言は、4つの主要分野、すなわち、優れたセンター、遺伝子スクリーニング、データ共有およびプライバシーに焦点を合わせている。

Global Commissionは2月20日米東部標準時午前11時／中部欧州標準時午後6時に米ニューヨーク州ニューヨークのマイクロソフト本社およびベルギーのブリュッセルで始まるロードマップ同時立ち上げイベントでライブとグローバルライブストリーム（https://c212.net/c/link/?t=0&l=en&o=2380032-1&h=3145412030&u=http%3A%2F%2Fbit.ly%2Fgclivestream&a=livestream ）経由で提言を議論する。Global CommissionはRare Disease Day（世界希少疾病の日）の2月28日には中国・北京でChinese Organization for Rare Disorders（CORD）と立ち上げイベントを共同主催し、Global Commissionの希少疾病コミュニティーのための提言の意味をさらに議論する。

解決策や関連の研究に関する詳細は、リポート全文（https://c212.net/c/link/?t=0&l=en&o=2380032-1&h=4190240908&u=http%3A%2F%2Fglobalrarediseasecommission.com%2Freport&a=here ）にアクセスを。

▽Global Commission to End the Diagnostic Odyssey for Children with a Rare Diseaseについて

Global Commission to End the Diagnostic Odyssey for Children with a Rare Diseaseは武田薬品工業株式会社、マイクロソフト、EURORDIS-Rare Diseases Europeが共同で設立した。Global Commissionの目的は、すべての希少疾病の早期診断を妨げる重大な障壁の解決策に焦点を合わせ、子供たちに影響を与えるものに重点を置いて、希少疾病分野のロードマップを確立することである。Global Commissionは多様な部門の代表を結集し、希少疾病診断に関する様々なパースペクティブを提供する。

Global Commissionのメンバーは次の通り（https://c212.net/c/link/?t=0&l=en&o=2380032-1&h=2791280570&u=http%3A%2F%2Fglobalrarediseaseommission.com%2Fmembers&a=The+Global+Commission+Members%3A ）：

Simon Kos, MBBS, BSc (Med), MBA, Chief Medical Officer and Senior Director,

Microsoft Worldwide Health (Co-Chair)

Yann Le Cam, Chief Executive Officer, EURORDIS-Rare Diseases Europe (Co-Chair);

Rare Diseases International Council Member

Wolfram Nothaft, M.D., Chief Medical Officer, Takeda (Co-Chair)

Moeen AlSayed, M.D, FACMG, MBA, Professor of Genetics, College of Medicine,

Alfaisal University, Director, MSc Genetic Counselling Program, Alfaisal

University Chairman, Department of Medical Genetics King Faisal Specialist

Hospital & Research Center

Kym Boycott, M.D., Ph.D., FRCPC, FCCMG, Clinical Geneticist, Senior Scientist,

CHEO Research Institute; Professor, Department of Pediatrics, University of

Ottawa

Pamela K. Gavin, MBA, Chief Strategy Officer, National Organization for Rare

Disorders

Roberto Giugliani, M.D., Ph.D., Professor, Department of Genetics, Federal

University of Rio Grande do Sul; Medical Genetics Service, Hospital de Clínicas

de Porto Alegre, Brazil

Kevin Huang, Founder and President, Chinese Organization for Rare Disorders;

Rare Diseases International Member

Anne O'Donnell-Luria, M.D., Ph.D., Associate Director, Center for Mendelian

Genomics, Broad Institute; Physician, Division of Genetics and Genomics, Boston

Children's Hospital

Maryam Matar, M.D., Founder and Executive Director, UAE Genetic Diseases

Association

Dau-Ming Niu, M.D., Ph.D, Chairman, Department of Pediatrics, Director, Medical

Genetics Center, Taipei Veterans General Hospital; Professor, Institute of

Clinical Medicine, National Yang Ming University

Mike Porath, Founder and CEO, The Mighty; Board Member, Dup15q Alliance

Arndt Rolfs, M.D., CEO, Centogene

Richard Scott, Ph.D., Clinical Lead for Rare Disease, 100,000 Genomes Project

at Genomics England and Consultant and Honorary Senior Lecturer in Clinical

Genetics, Great Ormond Street Hospital for Children and the UCL Institute of

Child Health

Marshall Summar, M.D., Director: Rare Disease Institute, Chief, Genetics and

Metabolism Margaret O'Malley Chair of Genetic Medicine Children's National

Medical Center, Washington, D.C. Professor of Pediatrics, George Washington

School of Medicine

Derralynn Hughes, Ph.D., Professor Experimental Haematology, University College

London and Royal Free London NHS Foundation Trust

Durhane Wong-Rieger, Ph.D., President & CEO, the Canadian Organization for Rare

Disorders; Council Chair, Rare Diseases International; Director, Asia Pacific

Alliance of Rare Disease Organization

▽武田薬品工業株式会社について

武田薬品工業株式会社（TSE:4502/NYSE:TAK）は日本に本社を置く世界的な、バリューをベースにした研究・開発（R&D）主導のバイオ製薬リーダーで、科学を高度に革新的な医薬品につなげることにより、患者により良い健康とより明るい未来をもたらすことにコミットしている。武田は腫瘍、消化器病（GI）、神経科学、希少疾病の4つの治療領域におけるR&Dに重点を置いている。また、プラズマ由来の治療法やワクチンにターゲットを絞ったR&D投資を行っている。当社は、新しい治療法の最前線を前進させ、強化された共同R&Dエンジンと強力で多様なパイプラインを生み出す能力を活用することによって、人々の生活の改善に貢献する革新的な医薬品の開発に注力している。当社の従業員は、約80カ国・地域で、患者の生活の質の向上と、医療におけるパートナーとの協力にコミットしている。

詳細はhttps://www.takeda.com を参照。

▽マイクロソフト（Microsoft）について

マイクロソフトは、インテリジェントクラウド時代とインテリジェントエッジ時代のデジタル変革を可能にする。その使命は、地球上のすべての人とすべての組織がより多くのことを達成できるようにすることである。

▽EURORDIS-Rare Diseases Europeについて

EURORDIS-Rare Diseases Europeは、欧州で希少疾病患者3000万人の生活改善にともに取り組む70カ国の希少疾病患者団体800以上のユニークで非営利のアライアンスである。

EURORDISは、患者、家族、患者グループを結び付け、すべてのステークホルダーを一本化し、希少疾病コミュニティーを動員することにより、患者の声を強化し、研究、政策、患者サービスを形作る。@eurordis（https://c212.net/c/link/?t=0&l=en&o=2380032-1&h=2077503443&u=https%3A%2F%2Ftwitter.com%2Feurordis&a=%40eurordis ）をフォローするか、EURORDIS のFacebookページ（https://c212.net/c/link/?t=0&l=en&o=2380032-1&h=176520730&u=https%3A%2F%2Fwww.facebook.com%2Feurordis&a=EURORDIS+Facebook+page ）にアクセスを。詳細はwww.eurordis.org を参照。

▽メディア問い合わせ先

Kate Hardin

Ruder Finn

HardinK@ruderfinn.com

+1 212.593.5890

（注1）European Medicines Agency. Orphan Medicines in the EU. http://www.ema.europa.eu/docs/en_GB/document_library/Leaflet/2017/12/WC500240710.pdf

（注2）Global Genes. Survey says: Misdiagnosis of rare diseases is common. https://globalgenes.org/raredaily/survey-says-misdiagnosis-of-rare-diseases-is-common/.

（注3）Global Genes. RARE Disease: Facts and Statistics. https://globalgenes.org/rare-diseases-facts-statistics/

ソース：The Global Commission to End the Diagnostic Odyssey for Children

Takeda, Microsoft and EURORDIS release report with action plan to help rare disease community shorten the diagnostic odyssey

PR77505

NEW YORK and BRUSSELS, Feb. 20, 2019 /PRNewswire＝KYODO JBN/ --

- Global Commission's recommendations focus on three solution pathways that

leverage technology to address key elements of the rare disease diagnostic odyssey

- Rare diseases remain undiagnosed as patients struggle to navigate complex

health systems to receive accurate diagnoses, which can take an average of five

years to receive, even in countries with sophisticated health systems.

The Global Commission to End the Diagnostic Odyssey for Children ("the Global

Commission"), co-chaired by Takeda, Microsoft and EURORDIS-Rare Diseases

Europe, an alliance of more than 800 rare disease patient organisations, today

announced its actionable recommendations (https://c212.net/c/link/?t=0&l=en&o=2380032-1&h=3969174704&u=http%3A%2F%2Fglobalrarediseasecommission.com%2Freport&a=recommendations ) in a report to address the barriers to diagnosis for people living with a

rare disease.

In 2018, the Global Commission Co-Chairs, Shire (now Takeda), Microsoft, and

EURORDIS, joined forces to bring together a multidisciplinary group of patient

advocates, physicians and other experts to help solve the complex challenges

impacting the rare disease community. Over the past year, the Global Commission

gathered input from patients, families and other expert advisors to gain key

insights to guide solutions to shorten the rare disease diagnosis timeline. The

roadmap's recommendations can be mapped back to three solution pathways:

1.  Empowering patients and families: Create opportunities to develop tools for

    caregivers to connect seemingly unrelated symptoms, inquire about

    additional testing and work together with physicians to achieve a correct

    diagnosis.

2.  Equipping frontline providers: Examine ways to equip physicians with the

    knowledge and tools to quickly and effectively identify patients who may

    have a rare disease and take appropriate action through solutions such as

    machine learning technology, expert-level guidance and genetic testing

    opportunities.

3.  Reimagining the genetic consultation: Identify innovative ways to enable

    medical geneticists to see priority patients more quickly, such as

    standardizing reporting methods and utilizing telemedicine for increased

    access to more patients.

"There are more than 6,000 identified rare diseases, the vast majority of which

begin in childhood, with patients receiving a misdiagnosis more than once in 40

percent of cases," said Wolfram Nothaft, M.D., Chief Medical Officer of Takeda

and Global Commission Co-Chair. "As champions for those living with a rare

disease, we've outlined real solutions to lessen the time to diagnosis for the

more than 300 million people affected worldwide." [1,2,3]

"The too often long road to diagnosis presents one of the greatest challenges

affecting the health, survival, well-being and indeed the very identity of

people affected by a rare disease and their families. This report identifies

concrete policy and technical actions, mobilizing diverse actors to build on

genetic and digital cutting-edge advances," said Yann Le Cam, Chief Executive

Officer, EURORDIS-Rare Diseases Europe and Global Commission Co-Chair.

The Global Commission is supporting three pilot projects to bring its solution

pathways to life, utilizing the expertise of its members and engaging

like-minded partners who are pushing the boundaries of innovation. The pilot

programs include 1) multifactorial machine learning to recognize symptom

patterns, 2) collaboration tools for "intelligent triage" and clinical

geneticist virtual panel consultation, and 3) developing a secure patient

registry and rare disease passport, which may use emerging technologies like

blockchain.

"We believe that technology provides an unheralded opportunity to help overcome

the barrier of 'rare,' and unfortunately, 'rare' often means 'off the radar,'"

said Dr. Simon Kos, Chief Medical Officer and Senior Director, Microsoft

Worldwide Health and Global Commission Co-Chair. "Many of our recommendations

address distinct challenges within rare disease that technology is uniquely

equipped to solve."

In its roadmap, the Global Commission also emphasizes the importance of global

policy frameworks for rare diseases to be recognized as an international public

health priority. The policy recommendations, designed to support and enable the

specific solution pathways, focus on four key areas: Centers of Excellence,

Genetic Screening, Data Sharing and Privacy.

The Global Commission will discuss its recommendations live and via global

livestream (https://c212.net/c/link/?t=0&l=en&o=2380032-1&h=3145412030&u=http%3A%2F%2Fbit.ly%2Fgclivestream&a=livestream ) at the simultaneous roadmap

launch events at Microsoft Headquarters in New York, NY and Brussels,

Belgium, on February 20th, beginning at 11:00 a.m. ET / 6:00 p.m. CET.

On February 28, in Beijing, China, coinciding with Rare Disease Day,

the Global Commission will co-host a launch event with the Chinese

Organization for Rare Disorders (CORD) to further discuss the implications of

the Global Commission's recommendations for the rare disease community.

For more information on the solutions and related research, the full report can

be accessed here (https://c212.net/c/link/?t=0&l=en&o=2380032-1&h=4190240908&u=http%3A%2F%2Fglobalrarediseasecommission.com%2Freport&a=here ).

About the Global Commission to End the Diagnostic Odyssey for Children with a

Rare Disease

The Global Commission to End the Diagnostic Odyssey for Children with a Rare

Disease was created in collaboration by Takeda, Microsoft and EURORDIS-Rare

Diseases Europe. The purpose of the Global Commission is to establish a roadmap

for the rare disease field that focuses on solutions to core barriers

preventing timely diagnosis for all rare diseases – with an emphasis on those

affecting children. The Global Commission brings together representatives from

multiple sectors to provide diverse perspectives on rare disease diagnostics.

The Global Commission Members:

(https://c212.net/c/link/?t=0&l=en&o=2380032-1&h=2791280570&u=http%3A%2F%2Fglobalrarediseaseommission.com%2Fmembers&a=The+Global+Commission+Members%3A )

Simon Kos, MBBS, BSc (Med), MBA, Chief Medical Officer and Senior Director,

Microsoft Worldwide Health (Co-Chair)

Yann Le Cam, Chief Executive Officer, EURORDIS-Rare Diseases Europe (Co-Chair);

Rare Diseases International Council Member

Wolfram Nothaft, M.D., Chief Medical Officer, Takeda (Co-Chair)

Moeen AlSayed, M.D, FACMG, MBA, Professor of Genetics, College of Medicine,

Alfaisal University, Director, MSc Genetic Counselling Program, Alfaisal

University Chairman, Department of Medical Genetics King Faisal Specialist

Hospital & Research Center

Kym Boycott, M.D., Ph.D., FRCPC, FCCMG, Clinical Geneticist, Senior Scientist,

CHEO Research Institute; Professor, Department of Pediatrics, University of Ottawa

Pamela K. Gavin, MBA, Chief Strategy Officer, National Organization for Rare

Disorders

Roberto Giugliani, M.D., Ph.D., Professor, Department of Genetics, Federal

University of Rio Grande do Sul; Medical Genetics Service, Hospital de Clínicas

de Porto Alegre, Brazil

Kevin Huang, Founder and President, Chinese Organization for Rare Disorders;

Rare Diseases International Member

Anne O'Donnell-Luria, M.D., Ph.D., Associate Director, Center for Mendelian

Genomics, Broad Institute; Physician, Division of Genetics and Genomics, Boston

Children's Hospital

Maryam Matar, M.D., Founder and Executive Director, UAE Genetic Diseases

Association

Dau-Ming Niu, M.D., Ph.D, Chairman, Department of Pediatrics, Director, Medical

Genetics Center, Taipei Veterans General Hospital; Professor, Institute of

Clinical Medicine, National Yang Ming University

Mike Porath, Founder and CEO, The Mighty; Board Member, Dup15q Alliance

Arndt Rolfs, M.D., CEO, Centogene

Richard Scott, Ph.D., Clinical Lead for Rare Disease, 100,000 Genomes Project

at Genomics England and Consultant and Honorary Senior Lecturer in Clinical

Genetics, Great Ormond Street Hospital for Children and the UCL Institute of

Child Health

Marshall Summar, M.D., Director: Rare Disease Institute, Chief, Genetics and

Metabolism Margaret O'Malley Chair of Genetic Medicine Children's National

Medical Center, Washington, D.C. Professor of Pediatrics, George Washington

School of Medicine

Derralynn Hughes, Ph.D., Professor Experimental Haematology, University College

London and Royal Free London NHS Foundation Trust

Durhane Wong-Rieger, Ph.D., President & CEO, the Canadian Organization for Rare

Disorders; Council Chair, Rare Diseases International; Director, Asia Pacific

Alliance of Rare Disease Organization

About Takeda Pharmaceutical Company Limited

Takeda Pharmaceutical Company Limited (TSE:4502/NYSE:TAK) is a global,

values-based, R&D-driven biopharmaceutical leader headquartered in Japan,

committed to bringing Better Health and a Brighter Future to patients by

translating science into highly-innovative medicines. Takeda focuses its R&D

efforts on four therapeutic areas: Oncology, Gastroenterology (GI),

Neuroscience, and Rare Diseases. We also make targeted R&D investments in

Plasma-Derived Therapies and Vaccines. We are focusing on developing highly

innovative medicines that contribute to making a difference in people's lives

by advancing the frontier of new treatment options and leveraging our enhanced

collaborative R&D engine and capabilities to create a robust, modality-diverse

pipeline. Our employees are committed to improving quality of life for patients

and to working with our partners in health care in approximately 80 countries

and regions.

For more information, visit https://www.takeda.com.

About Microsoft

Microsoft enables digital transformation for the era of an intelligent cloud

and an intelligent edge. Its mission is to empower every person and every

organization on the planet to achieve more.

About EURORDIS-Rare Diseases Europe

EURORDIS-Rare Diseases Europe is a unique, non-profit alliance of over 800 rare

disease patient organisations from 70 countries that work together to improve

the lives of the 30 million people living with a rare disease in Europe.

By connecting patients, families and patient groups, as well as by bringing

together all stakeholders and mobilising the rare disease community, EURORDIS

strengthens the patient voice and shapes research, policies and patient

services. Follow @eurordis (https://c212.net/c/link/?t=0&l=en&o=2380032-1&h=2077503443&u=https%3A%2F%2Ftwitter.com%2Feurordis&a=%40eurordis )

or see the EURORDIS Facebook page (https://c212.net/c/link/?t=0&l=en&o=2380032-1&h=176520730&u=https%3A%2F%2Fwww.facebook.com%2Feurordis&a=EURORDIS+Facebook+page ).

For more information, visit www.eurordis.org.

For further information please contact:

Media:  

Kate Hardin, Ruder Finn, HardinK@ruderfinn.com, +1 212.593.5890

[1] European Medicines Agency. Orphan Medicines in the EU.

http://www.ema.europa.eu/docs/en_GB/document_library/Leaflet/2017/12/WC500240710.pdf

[2] Global Genes. Survey says: Misdiagnosis of rare diseases is common.

https://globalgenes.org/raredaily/survey-says-misdiagnosis-of-rare-diseases-is-common/.

[3] Global Genes. RARE Disease: Facts and Statistics.

https://globalgenes.org/rare-diseases-facts-statistics/

SOURCE:  The Global Commission to End the Diagnostic Odyssey for Children