「HD LEGACY」
關於美國亨丁頓氏病遺贈計畫
時下有3.3萬美國人罹患亨丁頓氏病(Huntington’s disease, 簡稱HD)，20萬美國人有遺傳到HD的風險
為了反映日益增長的HD的研究需求，「美國亨丁頓氏病協會(HDSA)」及「治癒HD倡議基金會(CHDI Foundation)」共同宣布一項合作案：「亨丁頓氏病遺贈計畫(HD LEGACY)」。這項新計劃是包括以下三方共同合作：
從社會服務、教育到支持及研究、致力於改善HD病友的生活、提供病友及家屬『今日的協助及明日的希望』的非營利組織 HDSA
旨在促成快速開發延緩亨丁頓氏病惡化藥物的美國非營利研究機構 CHDI Foundation
哈佛腦組織資源中心 (Harvard Brain Tissue Resource Center, HBTRC)
病友的無私大愛
此計劃鼓勵帶有HD 基因變異的患者、有罹病風險的人及健康家屬捐贈腦及其他器官組織， HBTRC將協助有意願的家庭免費處理全部的捐贈流程，回應病友與家屬希望能對科學研究有貢獻的大愛。
「決定捐贈大體供科學研究是一項奇妙無私的行為」，HDSA的主席兼執行長Louise Vetter表示，「參與HD LEGACY對於人類的未來是珍貴的禮物。透過這項計畫，捐贈腦及其他組織真的留下了寶貴的遺產給社會，有助於啟發新的科學發現，未來終結HD痛苦的延續」。
「科學界對於腦運作的了解仍然相當淺薄」，CHDI基金會主席Robi Blumenstein表示，「研究人員需要更多受HD所苦的病友捐贈腦及神經組織，藉此方能更加了解HD是如何影響人類的腦神經運作，HD在不同種類腦細胞及神經迴路中改變了甚麼事。HD LEGACY 將為我們帶來治療HD的新想法」。
珍貴知識的禮物
HBTRC主任Sabina Berretta醫師表示：HBTRC也很榮幸能與HDSA及CHDI基金會合作，支持HD病友及家屬捐贈腦神經組織。她補充說明：「身為一位鑽研腦疾病機制的研究者，我由衷地感謝每一位捐贈者及家屬，願意交付我們如此珍貴的禮物。一個腦的捐贈對於學術界，對於全體社會，完全是一項『知識的禮物』。人腦研究將因此開啟一扇獨特的窗，讓我們一窺細胞及分子層次的變化，這對於研發疾病治療是一個不能欠缺的過程。」。
罕病的科學研究貢獻
神經罕見疾病HD是一種體顯性遺傳的神經退行性疾病，造成腦神經細胞漸進式的退化，在人生的黃金年齡開始有症狀，導致患者的運動及認知能力下降，目前沒有有效的療法。如果雙親其中一人罹患HD，每位子女將有一半的機會得到致病基因變異而發病。HD的症狀有時被比擬成是肌萎縮性脊髓側索硬化症（amyotrophic lateral sclerosis, ALS）、帕金森氏症（Parkinson’s disease, PD） 以及阿茲海默症 （Alzheimer’s disease, AD）的合體。
在國家衛生研究院論壇臺灣腦庫議題的支持下倡議成立「台灣腦神經組織資源中心 (臺灣腦庫) 」的「台灣神經罕見疾病學會（Society for Neurological Rare Disorders Taiwan, SNeRD)」對於HDSA與CHDI所提出「HD LEGACY 」新計劃感到開心，期待研究成果能造福更多HD的病患和家屬。我們同樣期待在台灣能夠募集到足夠多的腦神經組織，為台灣在腦科學研究上做出重要貢獻，能與世界同步終結亨丁頓氏症(HD)、脊髓小腦運動失調症(SCA)、肌萎縮側索硬化症(ALS)等神經罕見疾病。
目前臺灣腦庫正在積極籌備階段，在NHRI國衛院論壇江博煌副執行長的指導下，由台大醫學院謝松蒼副院長及本會現任理事長宋秉文醫師共同主持，帶領工作小組負責籌辦成立國家級腦組織庫，借鏡歐美、亞洲、澳洲等國的腦庫的經驗，也感謝過程中曾經參與並提供寶貴意見的醫界、法界、檢調等專家和學者。
本文資料參考來源：
關於台灣腦神經組織資源中心(臺灣腦庫) https://www.snerdtaiwan.org/關於tbtrc
Huntington’s Disease Society of America and CHDI Foundation launch HD Legacy to promote brain donation for HD research
以下為HD LEGACY計劃的英文全文摘要自HDSA官網：
New York, NY, June 20, 2019 – In response to a growing need to study exactly what Huntington’s disease (HD) does to the human brain, the Huntington’s Disease Society of America (HDSA) and CHDI Foundation are pleased to announce a new collaboration called HD LEGACY to support brain and other organ donations from families affected by HD who would like to make a vital contribution to research.
This new program encourages the donation of brain and other tissues from HD gene-expansion carriers, at-risk individuals, and healthy family controls. The Harvard Brain Tissue Resource Center (HBTRC) will assist interested families throughout the process, and families will bear no costs associated with the donation. To learn more you can call the HBTRC at 1-800- 272-4622 or visit the HBTRC website.
“The decision to donate one’s body to science is an amazingly selfless act,” said Louise Vetter, President and CEO at HDSA. “Participating in HD LEGACY is truly a gift for future generations. The brains and other organs donated through this program will leave a ‘legacy’ of hope, inspiring new knowledge that will someday stop HD in its tracks.”
“Science still has a quite rudimentary understanding of how the human brain works,” said Robi Blumenstein, President of CHDI Management, Inc. “Researchers need more brain donations from HD-affected individuals to better understand how HD affects the human brain, what happens to the different cell types and circuits that make up the brain over time. HD LEGACY will give us new insight into how to intervene therapeutically.”
Sabina Berretta, MD, Director of the HBTRC added “As an investigator on the pathophysiology of brain disorders, I am infinitely grateful to all brain donors and their families for the precious gift they entrust to us. A brain donation truly is a ‘gift of knowledge’ to the research community and, more broadly, to our society. Investigations on the human brain open a unique window into the changes that occur at the cellular and molecular level, which is an essential step toward effective therapeutic interventions. The HBTRC is proud to partner with CHDI and HDSA to support tissue donations from families affected by HD”.
HD is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. It deteriorates a person’s physical and mental abilities during their prime working years and has no cure. Each child of a parent with HD has a 50/50 chance of inheriting the faulty gene that causes HD. Today, there are over 33,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease. The symptoms of HD are sometimes described as having ALS, Parkinson’s and Alzheimer’s – simultaneously.
The decision to participate in HD LEGACY is an intensely personal one. All discussions with the Harvard Brain Tissue Resource Center are strictly confidential and registration in the program is non-binding.
The Huntington’s Disease Society of America is the premier nonprofit organization dedicated to improving the lives of everyone affected by HD. From community services and education to advocacy and research, HDSA is the world’s leader in providing help for today and hope for tomorrow for people with HD and their families. To learn more about Huntington’s disease and the work of the Huntington’s Disease Society of America, visit www.hdsa.org or call 1-800-345- HDSA.
CHDI Foundation, Inc., is a privately funded nonprofit biomedical research organization that is exclusively dedicated to rapidly developing therapies that substantially improve the lives of those affected by Huntington’s disease. As a collaborative enabler, CHDI seeks to bring the right partners together to identify and address critical scientific issues and move drug candidates to clinical evaluation as quickly as possible. CHDI scientists work closely with a network of more than 700 researchers in academic and industrial laboratories and clinical sites around the world in the pursuit of these novel therapies, providing strategic scientific direction to ensure that our common goals remain in focus. More information about CHDI can be found at www.chdifoundation.org.