影片名稱羅倫佐的油新療法ald.doc

疾病檔案Adrenoleukodystrophy) (ALD)；也稱 Siemerling-Creutzfeldt Disease。電影「羅倫佐的油」中的小男主角羅倫佐原本是個可愛活潑的小男孩，在四歲多時開始發瘋般狂叫，醫院診斷是罕見的遺傳性疾病－－「腎上腺腦白質退化症」（adrenoleukodystrophy，簡稱ALD）。 ALD患者需要長期服用特別的油，以減緩神經病變的進展，因此這種因羅倫佐男孩而研發出的油叫做 「羅倫佐的油」（Lorenzo’s oil）。二十年後的今天小羅倫佐已經長大成人，目前二十多歲，雖然服用「羅倫佐的油」可以將病情惡化速度下降，但由於神經症狀越來越嚴重，已導致四肢萎 縮，目前真實世界中的羅倫佐只剩下一點意識。 容易有過動，課業表現突然變差，聽力下降，空間認知能力受損，視力下降，步態不穩，字跡變潦草，抽筋與斜視等爾後病情進展快速，會有肌肉僵直，癱瘓，失聰與失明，失去說話與吞嚥的能力。從出現神經症狀至植物人狀態平均短短兩年，大多數於十幾歲前死亡。羅倫佐的油(Lorenzos Oil) 　　羅倫佐的油是從Erucic Acid提煉出來，為目前最普遍被採用的治療方式，然而此種治療方式只適合6歲以下小男孩使用。羅倫佐的油並不能治療已經產生的神經病變，對成年病患也不具療效。 骨髓移植 　　骨髓移植是目前提倡能有效改善X-ALD症狀的唯一方法， 但骨髓移植治療的成效除視受贈者與捐贈者HLA 是否能符合配對之外，在作移植前的免疫抑制的過程中，病人身體狀況是否能夠承受，並且能有效預防伺機性感染的發生，這些都是我們必須加以考慮的要件。免疫抑制 　　ALD的患者因為這些超長鏈脂肪酸會沈積在大腦白質、睪丸和腎上腺皮質，引起發炎反應，但是因為ALD的致病機轉與多發性硬化症相似，將之用在ALD患者 身上，但目前尚缺乏大型追蹤研究報告，所以成效目前不明。 Unproven New Therapies In November 2009, Science published a report on a pilot study of two patients receiving gene therapy combined with blood-stem-cell therapy, and stating that the combination may be a useful tool for treating ALD.[26] Presently, a boy with ALD is undergoing a new treatment in France. Professor Patrick Aubourg and Doctor Nathalie Cartier-Lacave are treating him with stem cells which have been altered by the introduction of inactivated AIDS virus cells. They have also successfully treated other children in this way. Says Nathalie Cartier-Lacave, “We have completely stabilised the evolution of this disease. These children are well, they go to school, they have a social life, a normal family life, and there’s no reason to think that this stabilisation isn’t permanent.” The technique was developed here in the Faculty of Pharmacy in Paris. First, stem cells are harvested from the patient’s soft bone tissue. Then a correcting gene is introduced using inactivated AIDS viral vectors. These are used because they are very effective at penetrating cells. Reinjected into the patients, the altered cells navigate straight to the brain where they permanently correct the gene defic