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Application process for inclusion as a rare disease

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  • Modify Date:Modify Date:2020/12/31
  • Publish Date:Publish Date:2020/12/29
一、 申請單位 
Applicant Institution 
(一)罕見疾病及藥物審議會之委員或所屬醫療機構 (若非醫療背景委員,須有專科醫師協助專業評估後提出申請)。 
Members of The Review Committee for Rare Diseases and Orphan Drugs or affiliated medical care institutions (for members with no medical background, specialists physicians must assist in professional evaluation prior to the application submission). 
(二)中央衛生主管機關得請收治病人之醫療機構提出申請。 
The medical care institution where the patient has been admitted for treatment, shall submit their application to the Central Health Authority (MOHW). 
(三)相關專科醫師或所屬醫療機構、醫學會。 
Relevant specialist physicians or affiliated medical care institutions, medical associations. 
(四)病友團體及藥事團體(兩類團體須有專科醫師專業評估,始可提出申請)。 
Patient support groups and pharmaceutical affairs group (both types of group must have a professional evaluation by a specialist physician before application submission). 

二、 所需文件: 
Documents required: 
(一)申請列入罕見疾病之說明(附件一)。 
Description of application for inclusion as a rare diseases (Annex 1). 
1、申請列入罕病之動機及必要性。
Motivation and necessity of application for inclusion as a rare diseases. 
2、疾病盛行率。 
Disease prevalence rate.
(1)優先舉證本國盛行率資料。
Preferential proof of the country’s (Taiwan’s) prevalence data. 
(2)如無本國盛行率,則優先舉證亞洲人種(如:日本、韓國、東南亞)之疾病盛行率資料。 
In case there is no prevalence rate of such disease in the country, priority will be given to evidence of the prevalence rate of such disease in Asian races (such as Japan, Korea and Southeast Asia). 
(3)若前述國家並無該疾病盛行率之發表文獻時,則檢附德 國、美國、英國、法國、日本、瑞士、加拿大、澳洲、 比利時及瑞典等十大醫藥先進國家中之兩個國家之疾 病盛行率,以供委員審查之參據。 
If there is no published literature on the prevalence rate of such disease in the aforementioned countries, the prevalence rate of two of the top ten advanced medical countries including Germany, United States, United Kingdom, France, Japan, Switzerland, Canada, Australia, Belgium and Sweden must be attached to serve as a reference for the Committee to review. 
(4)請檢附國內外相關文獻資料。 
Please attach relevant domestic and foreign literature. 
3、是否需要遺傳諮詢或有利於疾病防治。 
Whether genetic counseling or benefit from disease control is needed. 
請檢附國內外相關文獻資料。 
Please attach relevant domestic and foreign literature.
4、診斷標準 
Diagnostic criteria. 
(1)確認診斷標準,例如臨床症狀、檢驗或檢查結果報告、 家族史.…等個案資料。 
Confirmation of diagnostic criteria, such as case data of clinical symptoms, test or examination result reports, family history...etc. 
(2)基因檢測內容,例如基因檢測名稱、基因序列變異情 形.…等,需檢附基因檢測結果報告。 
Basic genetic test information, such as the name of the genetic test, the variation of the gene sequence, etc., are required to be submitted with the genetic test result report. 
(3)現行國內、外採用之鑑別診斷及治療方式。 
Differential diagnosis and treatment methods currently used at home country (Taiwan) and abroad. 
5、診療困難性 
Difficulty in diagnosis and treatment.
(1)診斷資源困難:運用相關醫療之測試或檢查、檢驗、診斷等資源困難。 
Difficulties in diagnostic resources: Difficulties in using relevant medical tests or resources for examination, inspection, and diagnosis. 
(2)治療資源之取得困難:治療之資源(係指非藥物方面之 治療,例:手術方法或儀器設備等)取得有困難。 
Difficulties in obtaining treatment resources: Difficulties in obtaining treatment resources (referring to non-medicinal treatment, such as surgical methods or equipment, etc.). 
(3)藥物使用資源之取得困難:指醫師在處方藥品(按藥事 法第6條規定)或專案進口,供病人治療之資源取得有困難。 
Difficulties in obtaining resources for the use of medications: Refers to physicians having difficulties in obtaining resources for prescribing drugs (as stipulated in Article 6 of the Pharmaceutical Affairs Act) or projects of drug importation for patient treatment. 
(4)上述之鑑別診斷及治療方式,全民健康保險有無提供給付、已提供給付項目及尚未提供給付項目。 
Whether the National Health Insurance provides subsidy (already has/does not have provision for subsidy items) for the above-mentioned differential diagnosis and treatment methods. 
6、診斷治療費用
Cost of diagnosis and treatment. 
一年所需診斷治療費用。 
The cost of diagnosis and treatment required for one year. 
7、其他補充說明資料。 
Other supplementary information. 
(二) 個案資料表(附件二) 
Case information sheet (Annex 2). 
1、個案基本資料
Basic information of the case. 
2、家族史
Family history. 
3、主訴及症狀 
Chief complaint and symptoms. 
4、檢驗結果 
Test results. 
5、診斷名稱 
Diagnostic name. 
6、治療情形 
Treatment situation. 
7、診療醫院及醫師資料 
Information on medical hospital and physician. 
8、檢附個案與罕見疾病病程相關之原始病歷紀錄、檢驗及影像學等報告 
Attach original medical records, examinations and radiographic imaging reports of the patient taken during the course of rare disease. 
(三)罕見疾病個案通報審查標準 
Notification and review standards of rare disease cases.

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