關於我們
我們的使命
ECD聯盟致力於與厄Erdheim-Chester病相關的意識、支援、教育和研究。該組織與全球社區合作完成以下工作：
提高對 ECD 的認識。 我們努力促進疾病的早期診斷，並激發關注和努力增加對疾病和治療的瞭解。
為受疾病影響的人提供支援。 我們將繼續尋求一切途徑，盡可能減輕受 ECD 影響的人的負擔。提供資訊、轉診和與受疾病影響的其他人進行一對一聯繫只是通過 ECDGA提供的支援中的一小部分。
宣導和支援研究計劃。 此類研究計劃的目的是更多地瞭解 （a） 疾病，（b） 疾病的有效治療方法，（c） 可能的治療方法，和/或 （d） 完全預防疾病的途徑。這將包括但不限於與醫務人員、研究人員和其他衛生組織合作，以幫助確定需要研究的領域，資助研究，並説明向其他衛生機構宣傳 ECD 研究的好處。該聯盟還將作為管道，根據書面指南將所需資訊從其成員傳輸到研究界。
Kathy Brewer，創始人兼總裁
共用教育材料並促進相關方之間有關 ECD 的信息共用。 這包括向患者、親人、醫務人員、研究人員、媒體和其他組織提供與 ECD 相關的最新、可靠和事實資訊。它還將包括促進、贊助和舉辦研討會、專題討論會和其他會議，以促進聯盟的目標。
十年的影響力
對於大多數人來說，Erdheim-Chester 病的經歷始於令人沮喪、恐懼的答案尋找。
對於 ECD 全球聯盟創始人 Kathy Brewer 和她已故的丈夫 Gary 來說，這無疑是正確的。在他去世時，加里已經病了 20 年，病重了 3 年。他有腎病的癥狀，事實上，他接受了腎移植手術。但直到屍檢，Kathy 才知道 Erdheim-Chester 是真正的原因。
這是一種非常罕見的疾病所面臨的挑戰。當一種疾病在全球範圍內估計只折磨著 1,000 人時，很少有醫生具備診斷它所需的熟悉度，尤其是當它表現為從骨痛和體重減輕到視力和平衡問題等癥狀時。（在許多身體系統中， ECD 會影響垂體和腎上腺、肺、心臟周圍的膜、腎臟和大腦。
然而，今天的 ECD 情況與 2008 年截然不同，原因是 ECD 全球聯盟。該聯盟由通過互聯網找到彼此的患者護理人員發起，現已從6個家庭發展到近800個家庭，它極大地改變了 ECD 患者的前景。
今天，大多數 ECD 患者可以通過現在使用的幾種治療方法中的一種來控制疾病的進展。許多人已經從面臨 3-5 年的典型預期壽命轉變為在繼續生活時控制癥狀。
我們對未來的希望
閱讀您的倡導團體目前正在實施的5年戰略計劃。
ECD 全球聯盟創建了一個基於患者、家庭成員、朋友、捐贈者、醫療專業人員和研究人員之間協作和夥伴關係的社區。作為一個社區，以下時間表概述了因此而發生的一些成就。
該聯盟在國際領先的醫療機構建立了一個護理中心網路，每個中心都有一個準備診斷和治療 ECD 的專家團隊。
“在 ECDGA 之前，沒有治療疾病或獲取資訊的中心場所，也沒有組織。你會遇到一位主動為你治療的醫生，然後發現他們從未治療過一名 ECD 患者。– ECD 患者的照護者
“從科學和人類的角度來看，過去十年取得了 如此多的成就 ，其中很少有沒有聯盟的印記。” – ECD ） 研究員
它建立了一個家庭支持網路，並將國際 ECD 社區的成員聚集在一起，參加一系列年度會議 – 這是患者相互認識並與 ECD 專業醫生交談的機會。
它啟動了患者登記處以建立 ECD 數據檔案，並與 NIH 合作招募患者進行自然歷史研究——這是瞭解疾病進展的關鍵。
“全球聯盟堪稱典範——真的、真的宣導、聯繫醫生，讓人們走出孤島並建立聯繫。”- ECD 護理中心醫生
這個組織感覺就像一份禮物。致力於推進對 ECD患者的護理的人。我從未體驗過如此發自內心的奉獻。 – ECD 患者
而且，最引人注目的是，它説明使基因治療工作成為可能，導致 FDA 批准了一種治療 ECD 有效的藥物。
更多成就
| Year | Accomplishment | Details |
|---|---|---|
| 2025 | 10th Annual ECD Conference held in Barcelona, Spain, in partnership with Hospital Universitari de Bellvitge | Patients, family members, clinicians, and scientists met together to share knowledge and experiences. Attendees from over 20 countries shared information with the help of real-time human interpreters, supporting five different languages. The conference was co-hosted by Dr. Xavier Solanich. |
| Rheumatology Conference ECD Awareness Exhibit Planned | The ECDGA will attend the American College of Rheumatology (ACR) conference in Chicago, October 24-29, 2025. | |
| Monthly Webinars | Monthly webinars are held to share information to ease the burden of living with ECD. | |
| Updated ECDGA Website | A more modern website was released by the ECDGA that fully supports 11 languages. | |
| 2024 | 9th Annual Conference held in Seattle, WA, USA, in partnership with the University of Washington and Fred Hutch Cancer Center | The Seattle conference was attended by 68 patients and family members and 42 medical professionals from around the world. The conference was co-hosted by Dr. Paul Hendrie. |
| Endocrinology Conference ECD Awareness Exhibit | The ECDGA hosted a booth at the Endocrinology conference, ENDO 2024, in Boston, Massachusetts, June 1-4, 2024. | |
| Ophthalmology Conference ECD Awareness Exhibit | The ECDGA hosted an awareness booth at the American Academy of Ophthalmology (AAO) in Chicago, Illinois, from October 18-21, 2024. | |
| Radiology Conference ECD Awareness Exhibit | The ECDGA hosted an awareness booth at the Radiological Society of North America (RSNA) conference in Chicago, Illinois, from December 1-4, 2024. | |
| Pathology Conference ECD Awareness Exhibit | The ECDGA hosted an awareness booth at the United States and Canadian Academy of Pathology (USCAP) in Baltimore, Maryland, from March 25-27, 2024. | |
| Virtual Chats | The number of virtual chats offered to the community has been expanded to include three general English chats: one for patients, one for caregivers, and one for those grieving a loss due to ECD. In addition, six other location- and/or language-specific chats are also offered. | |
| $50,000 ECD research grant awarded to Francesco Peyronel, MD, at Meyer Children’s University Hospital in Firenze, Italy. | Dr. Peyronel was awarded the grant to study “A New Comprehensive Approach to Predict Long-Term Prognosis in Erdheim-Chester Disease: From Cluster Analysis to Patient-Reported Outcomes”. | |
| 2023 | 8th Annual ECD Conference held in Rochester, Minnesota, in partnership with Mayo Clinic | The ECD conference was attended by 59 patients and family members and 41 medical professionals from around the world. The conference was co-hosted by Dr. Ronald Go and Dr. Gaurav Goyal. |
| Neuro-oncology Conference ECD Awareness Exhibit | The ECDGA hosted an awareness booth at the Society of Neuro-Oncology (SNO) conference in Vancouver, British Columbia, from November 15 – 19, 2023. | |
| $200,000 grant awarded in partnership with the Leukemia and Lymphoma Society (LLS) to Matthew Collin, MD, PhD at Newcastle University in the UK. | Dr. Collin was awarded the grant to study “Inferring the origin of Erdheim-Chester Disease from Phylogenetic”. | |
| $200,000 grant awarded in partnership with the Leukemia and Lymphoma Society (LLS) to Gaurav Goyal, MD, at the University of Alabama at Birmingham in Alabama, AL | Dr. Goyal was awarded the grant to study “A Multi-Center, Multi-National Investigation of Survivorship and Patient-Reported Symptoms in Erdheim-Chester Disease”. | |
| $50,000 grant awarded to Egle Kvedaraite, MD at Karolinska Institutet in Stockholm, Sweden. | Dr. Kvedaraite was awarded the grant to study “Spatial understanding of Erdheim-Chester disease origin and lesional microenvironment for future precision medicine.” | |
| $20,000 Grant Awarded to Jithma Abeykoon, MD at the Mayo Clinic in Rochester, MN, USA. | Dr. Abeykoon was awarded the grant in partnership with Uplifting Athletes to study “Prognostic and Therapeutic Significance of Chromosome Region Maintenance 1 (CRM1) Protein in Erdheim-Chester Disease”. | |
| 2022 | Three Regional ECD meetings held | Meetings were held in Birmingham, AL; Cincinnati, OH, and San Diego, CA, all in the USA, as the COVID pandemic was being brought under control. The meetings were held by patients, family members, and medical professionals. |
| 2nd FDA-Approved Drug: Cobimetinib (Cottelic) | A Memorial Sloan Kettering Trial led to favorable results for the Erdheim-Chester patients enrolled, eventually resulting in approval. The ECDGA assisted in the recruitment process to make this possible. | |
| Hematology Conference ECD Awareness Exhibit | The ECDGA returned to the American Society of Hematology (ASH) meeting to host an awareness booth and interact with hematologists from around the world to help raise awareness with clinicians who would be likely to diagnose ECD early in the progression of the disease, when treatments are more likely to be most effective. | |
| $50,000 Grant Awarded to Francesco Pegararo, MD at Meyer Chidren’s University Hospital in Firenze, Italy in Firenze, Italy | Dr. Pegoraro was awarded the grant to study “Exploring the genetic landscape of Erdheim-Chester disease by integrating GWAS and -omic data.” | |
| $20,000 Grant Awarded to Gaurav Goyal, MD at the University of Alabama at Birmingham in Alabama, USA | Dr. Goyal was awarded the grant in partnership with Uplifting Athletes to study “Burden of morbidity and premature mortality in patients with Erdheim-Chester disease.” | |
| 2021 | Webinars, Chats, and Strategy continue | The organization continues to support patients, families, and physicians with meaningful connections as much as possible during the COVID pandemic. All while implementing our 5-Year Strategy of growth and improvement. |
| NCCN Guidelines | The National Comprehensive Cancer Network (NCCN) Guidelines® for Histiocytosis were published, as discussed and planned through the ECD Care Center Referral Network meetings managed through the ECDGA leadership. | |
| Virtual Medical Symposium | With a pandemic that no one expected or hoped for, the annual events were canceled for 2020. This year, we pulled together our top physicians and researchers to create an online conference, continuing the collaboration and growth in the medical field without delay. | |
| 2020 | Community Webinars | The COVID pandemic led to the ECDGA providing Educational webinars hosted by our expert medical member. These replaced the in-person conference normally held annually for the ECD community. This involved partnerships with other histiocytosis advocacy groups. These partnerships have strengthened and streamlined this project, benefiting all involved. |
| High-Level Strategy Planning | The ECD Global Alliance is a small but extremely effective organization leading the fight against the disease. Beginning in 2008, the organization has helped achieve major advances in treatment and offered invaluable support to patients and caregivers. As a result, the Alliance has helped change the meaning of an ECD diagnosis. Organization leaders met to set a direction to continue the track record of community accomplishments. | |
| 2019 | 7th Annual ECD Conference held in Milan, Italy, in partnership with San Raffaele Scientific Institute | The purpose of the medical symposium is to unite international medical professionals in discussion and education of studies, experiences, and knowledge regarding Erdheim-Chester Disease. In this space, medical professionals are encouraged to present findings and knowledge to audience members. During the patient meeting, patients and family members are encouraged to ask questions, reach out, and learn about the ultra-rare disease that affects their lives. This meeting was co-hosted with Prof. Lorenzo Dagna. |
| Endocrinology Conference ECD Awareness Exhibit | The purpose of the ECD Global Alliance exhibit at the endocrinology conference, ENDO 2019, was to generate awareness of Erdheim-Chester Disease, communicate the recent research landscape and new treatment opportunities for patients, and facilitate the growth of the ECD Global Alliance medical professional network among interested physicians and scientists. In addition, connect with other exhibitors offering services that can help the ECDGA raise further awareness and education of ECD. | |
| Second Consensus Article Published | As a result of the ECD Medical Symposia in previous years, the second-ever comprehensive guidelines were published by leading ECD experts. This important document was a collaborative collection of data gleaned from extensive research on the disease and the treatment of patients worldwide. | |
| $50,000 ECD research grant awarded to Dr. Nicole Coufal at UCSD | Dr. Coufal was awarded a grant to study “Pathophysiology of Neurodegenerative Erdheim-Chester Disease and Langerhans Cell Histiocytosis.” | |
| Chat Program | The infamous COVID pandemic pushed the ECDGA to find creative ways to engage the community. With online meetings becoming normal, the Alliance began hosting chats for various audiences. This includes patients, friends, family, caregivers, physicians, and regional and international language meetings. | |
| 2018 | 6th Annual ECD Conference held in Orlando, FL in partnership with Orlando Health | A total of 109 members from eight countries attended to learn about the drug trial process, how to manage multiple medications, how to care for yourself with nutrition and exercise, and about care management. This conference was co-hosted by Dr. Julio Hajdenberg. |
| Hematology Conference ECD Awareness Exhibit | Hematologists from around the world eagerly engage with ECDGA exhibitors at the American Society of Hematologists (ASH) to learn more about Erdheim-Chester Disease. | |
| Grand Round Medical Presentations | ECD-knowledgeable physicians provided education on ECD at the University of Miami and Houston Methodist. | |
| 2017 | 1st FDA-Approved Drug: Vemurafenib (Zelboraf) | The Memorial Sloan Kettering Basket Trial led to favorable results for the Erdheim-Chester patients enrolled, eventually resulting in approval. The ECDGA assisted in the recruitment process to make this possible. |
| 5th Annual ECD Conference held in New York in partnership with Columbia University and Memorial Sloan Kettering Cancer Center | Patients, family members, nurses, research teams, and numerous physicians attended the 2017 Patient & Family Gathering and Medical Symposium held in New York. Attendees were brought up to date on the latest research, treatments, and care management techniques, including the psychological effects of living with ECD. This meeting was co-hosted with Dr. Mark Heaney and Dr. Eli L. Diamond. | |
| Care Centers Added to Network | Locations in Israel, China, Nashville, Canada, and Australia were welcomed to the network. | |
| Grand Round Medical Presentations | ECD-knowledgeable physicians were sponsored by the ECDGA to give educational talks at universities in Houston, TX, New Orleans, and Shreveport, LA. | |
| Pathology Conference ECD Awareness Exhibit | The ECDGA medical community volunteered to create materials to educate attendees at an annual pathology conference. The ECDGA team hosted an exhibit booth, where they introduced and discussed ECD at length with pathologists around the world. | |
| $50,000 ECD research Grant Awarded to Dr. Benjamin Durham at MSK | Dr. Durham was awarded a grant to study “Defining the Cell-of-Origin of Erdheim-Chester Disease.” | |
| 2016 | 4th Annual ECD Conference held in Paris, France, in partnership with Hôpital Pitié-Salpêtrière | The first European conference, held in Paris, France, included 63 attendees from 17 different countries who heard from 16 physicians about ECD organ involvement, the use of scans to monitor the disease and its treatments, techniques to manage pain, and the latest research findings, including treatment options. The first European ECD Medical Symposium was held in Paris, France, at Hôpital Pitié-Salpêtrière, where over 50 physicians gathered to collaborate and share data on ECD. This meeting was co-hosted with Prof. Julien Haroche. |
| $43,000 ECD research grant was awarded to Dr. Eli Diamond at Memorial Sloan Kettering | Dr. Eli L. Diamond was awarded a grant to study “A Clinical, Structural, and Functional Neuroimaging Study of Cognition in Erdheim-Chester Disease.” | |
| $50,000 ECD research grant was awarded to Dr. Filip Janku at MD Anderson and Dr. Omar Abdel-Wahab at Memorial Sloan Kettering | Drs. Janku and Abdel-Wahab were awarded a grant to study “Understanding and Targeting Novel Molecular Alterations in Erdheim-Chester disease Without the BRAFV600E Mutation.” | |
| $50,000 ECD research grant was awarded to Dr. Marina Ferrarini and Dr. Lorenzo Dagna at San Raffaele Scientific Institute | Drs. Ferrarini and Dagna were awarded a grant to study “Tailoring Treatments for Erdheim-Chester Disease.” | |
| 10 Languages Added to Website | Volunteers from around the globe dedicated their time and talents to translating important content into ten languages for the ECDGA website. | |
| 2015 | 3rd Annual ECD Conference held in Houston, Texas, in partnership with MD Anderson Cancer Center | Patients, families, and physicians united in Houston, TX, for a memorable two-day gathering. The medical symposium was co-hosted at MD Anderson Cancer Center, with Dr. Filip Janku. |
| Development of ECD Referral Care Center Network | Care centers with ECD-knowledgeable medical teams began to form a network to support patients with care and consultation around the world. To date, the ECDGA collaborates with 35 ECD Care Centers serving patients. | |
| New Website | An updated website was developed to engage members on all devices. | |
| $313,000 Grant was awarded to Dr. Eli L. Diamond at Memorial Sloan Kettering and Pr. Matthew Collin at Newcastle University | Drs. Eli L. Diamond and Matthew Collin were awarded for the development of the ECD Patient Registry. This allowed patients and physicians the opportunity to collaborate and lead research more effectively so that treatment and care can continue to improve and evolve. | |
| 2014 | 2nd ECD Conference held in Bethesda, Maryland, in partnership with the National Institutes of Health | Patients and family members gather in Bethesda, MD, for a two-day meeting including ECD presentations delivered by the experts. Physicians and researchers presented their work and discussed the state of Erdheim-Chester disease care for patients around the world. This conference was co-hosted by Dr. Juvi Estrada-Veras. |
| Consensus guidelines for ECD treatment are published | The “Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester Disease” are published in the journal, Blood. | |
| 2013 | 1st ECD International Conference held in San Diego, California | In addition to the patient meeting, the first international meeting was held this year, inviting doctors to present ECD research, case studies, and treatments. This meeting was also the catalyst for collaboration in developing the significant 2014 Blood Journal ECD Consensus document. Collaborative annual conferences have continued to take place around the world each year. |
| ECD Documentary Film | A patient documentary film was developed and produced to support outreach and education of Erdheim-Chester disease. | |
| $50,000 ECD Research Grant Awarded to Drs. Omar Abdel-Wahab, David Hyman, and Eli Diamond at Memorial Sloan Kettering Cancer Center | $50,000 was awarded to Drs. Abdel-Wahab, Diamond, and Hyman at Memorial Sloan-Kettering Cancer Center (MSK). “Somatic Genetic Alterations in the Pathogenesis and Therapy of Histiocytic Disorders” | |
| 2012 | $47,000 ECD Research Grant Awarded to Dr. Julien Haroche and Dr. Laurent Arnaud at Hôpital Pitié-Salpêtrière | Drs. Haroche and Arnaud were awarded a grant to study “Understanding dendritic cell lineages in Erdheim-Chester disease: towards a non-invasive diagnosis” |
| 1st ECD Medical Meeting | A meeting was held in Houston, TX, attended by investigators from various institutions in the US. | |
| 2011 | $50,000 ECD Research Grant Awarded to Dr. Lorenzo Dagna at San Raffaele Scientific Institute | Dr. Dagna was awarded a grant to study “Hypoxia and inflammation in Erdheim-Chester disease microenvironment: Insights on the pathogenesis and implications for therapy”. |
| ECD Natural History Study | The National Institute of Health (NIH) played a pivotal role in ECD research and in pursuing new treatments that educate the medical community about ECD. NIH clinical director, William Gahl, M.D., Ph.D., and principal investigator, Juvianee Estrada-Veras, M.D., along with Kevin O’Brien, conducted a natural history study on the disease. The study began in 2011, and this led to a treatment trial in 2014. Multiple medical journals have been published with the data collected from this thorough study of ~60 patients. | |
| 2010 | 501(c)3 Tax Exemption Granted | ECDGA was granted federal tax exemption status following the formation of the Board of Directors and Medical Advisory Board. |
| First multi-center study | The ECDGA is | |
| 2009 | Treatment protocols begin to be published | The ECDGA is able to share studies and treatment protocols to community members based as documented in peer-reviewed publications |
| ECDGA forms leadership boards | The ECDGA Board of Directors and Medical Advisory Board are formed. | |
| 2008 | ECD Caregivers Meet | In April 2008, a few ECD caregivers, Carol, Kathy, and RuthAnn found each other via the internet. |
| First Chat Session Held | With a spirit of “If you build it, they will come,” an online chat session was scheduled for all those affected by ECD. We started with a group representing only six patients. | |
| ECD Website Published | A website was created with the hope that it would provide much-needed information to families in search of answers for this rare illness. |