S5. E8. 聯手對抗少見皮膚疾病 PARTNERING TO COMBAT RARE DISEASES

膿皰性乾癬（GPP）及掌蹠膿皰症（PPP）等少見的皮膚疾病患者，長期承受身體及精神上的痛苦。百靈佳殷格翰正在研究新藥物，致力於改善患者生活品質。

Brandon從嬰兒時期開始就患有罕見的自發性皮膚炎：膿皰性乾癬（ generalized pustular psoriasis，簡稱GPP）。他從小就在痛苦中度過，他說：「我被孤立，不被接受，因為我看起來跟別人不一樣。發病時，我可以感覺到身體內在結冰，皮膚在燃燒。」Brandon回憶，每逢發病時，他的皮膚就會被膿皰覆蓋；直到今日，這個疾病依然糾纏著他。

發燒、肌肉無力、發炎的疹子，是GPP以及相關疾病掌蹠膿皰症（ palmoplantar pustulosis ，簡稱PPP）的典型發病症狀。GPP患者會讓全身都長滿膿皰；PPP最常發作、被影響的部位則為手跟腳，患者因此難以走路、抓取東西。如果膿皰發炎，最壞的狀況甚至可能導致敗血症。患者迫切需要藥物，但目前在日本以外的國家，都尚未有被批准使用的治療方案。

百靈佳殷格翰正在研究一種藥物，希望能改善患者生活品質。該藥物目前正在接受多項研究測試，也已經初步顯示出預期成果：此潛能藥物能以靜脈或皮下注射方式施打，令藥效能快速生效。百靈佳殷格翰正在努力，盡快將此藥物供應給患者使用。

提升患者生活品質的關鍵之一，是與像美國乾癬協會（National Psoriasis Foundation，NPF）這類的病患互助組織 密切合作。這些互助團體對患者來說非常重要，能給予直接的接觸與協助。由於每100萬人中只有1到9人可能罹患GPP和PPP這類少見的皮膚疾病，很多醫生可能不知道病情症狀，或者一知半解。有鑑於此，百靈佳殷格翰正在和世界各地的病患互助組織攜手合作，一起面對這個挑戰。

病友互助組織—美國乾癬協會

美國乾癬協會（National Psoriasis Foundation，NPF）為生活受疾病影響的人提供一個平台，能查詢、分享病症相關資訊。即便這兩種疾病的症狀與常見的斑塊型乾癬（plaque psoriasis）病狀不同，GPP及PPP患者也能獲得美國乾癬協會的支持。 美國乾癬協會也推動醫師與科研人員之間的合作。美國乾癬協會營收總監 Emily Boyd Stormoen 表示：「我們藉由與百靈佳殷格翰的合作，開發了新的關鍵資源，因此能給予社群成員們更好的服務。百靈佳殷格翰一直在追求各種創新的合作方式，患者的發聲能被聽見，讓社會更了解病友們尚未被滿足的醫療需求。」

PARTNERING TO COMBAT RARE DISEASES

Those who suffer from the rare skin diseases generalized pustular psoriasis (GPP) and palmoplantar pustulosis (PPP) experience physical and mental pain. Boehringer Ingelheim is currently doing research on a substance with the goal of improving these patients’ quality of life.

Brandon has suffered from the rare auto-inflammatory skin disease generalized pustular psoriasis (GPP) ever since his infancy. He particularly struggled with the condition during his childhood: “People didn’t accept me because I looked different,” he recalls. Whenever he had a bout of the disease, his skin would be covered with painful pustules. Even today, the disease still has a firm hold on him. “When I suffer a bout, I feel like I am freezing on the inside, but my skin is burning.”

Fever, muscle weakness and an inflamed rash are the typical symptoms of GPP as well as the related disease palmoplantar pustulosis (PPP). With GPP, the entire body is covered with pustules, while PPP affects the hands and feet in particular. Sufferers therefore have difficulty walking and grasping things. If the pustules become inflamed, this can even lead to sepsis in the worst-case scenario. Patients urgently re- quire a medicine, but no treatment options are currently available outside of Japan.

Boehringer Ingelheim is now researching a sub- stance with the goal of improving these patients’ quality of life. It is currently undergoing testing in several studies. These have shown initial promise: The potential medicine is being explored both intravenously, as well as at a later date, subcutaneously, with the goal of achieving rapid efficacy. It is the company’s goal to bring this medicine to patients as fast as possible.

A key aspect of bringing improved patient out- comes is to ensure close cooperation with patient organizations, such as the National Psoriasis Foundation (NPF). Partners such as the NPF are of vital importance to patients, given their direct contact with them. Even doctors are frequently unaware of GPP and PPP, as only between one and nine persons out of every mil- lion suffer from them. Boehringer Ingelheim is precisely for this reason facing up to this challenge – and is doing so together with partners around the world.

THE PATIENT ORGANIZATION NPF

The US National Psoriasis Foundation (NPF) provides a platform for individuals whose lives have been impacted by psoriasis to find and share information about the disease. GPP and PPP patients are also supported by NPF, although both diseases differ in their underlying nature from more common plaque psoriasis. Additionally, the NPF promotes partnership with doctors and scientists. “Partnering with Boehringer Ingelheim has helped to bring much needed attention to this underserved patient population,” says Emily Boyd Stormoen, Chief Revenue Officer of the NPF. “Through this work, NPF has developed critical resources to better serve this community.” For Boyd Stormoen, it is clear: “Boehringer Ingelheim is always looking for new and innovative ways to partner that will elevate the patient voice and bring attention to unmet needs of the community.”