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Current Status and Challenges of Guarantee for Rare Disease Drugs

JOURNAL OF RARE DISEASES.2024;3(2):155-163. doi:10.12376/j.issn.2097-0501.2024.02.001

In the past few years,China has pushed forward the availability of diagnosis and treatment of rare diseases.However,only 5％of patients receive effective treatment in the world.In China,the difficul-ties in having access to drugs against rare disease is still one of the major problems in medical service and the main cause of patients complaints for"difficulties in getting treatment"and"difficulties in getting drugs".The availability of the medication for rare disease is a coordinating mechanism involving multiple such points in the chain as in research and development,production,circulation,usage,way of payment,technology in-novation and so forth.It also relates to the actors in supply,demand,and policy decision-makers.The com-plexity is different from that of common drugs.This article provides a brief overview of the current status of availability policies of medication for rare diseases in China and in other countries,as well as the technology in drug development.In addition,the article points out the problems,challenges and expectations for future possibilities.

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Preliminary Exploration on the Establishment of the Department of Rare Diseases at Peking Union Medical College Hospital

Min SHEN ; Shuyang ZHANG

JOURNAL OF RARE DISEASES.2024;3(2):164-167. doi:10.12376/j.issn.2097-0501.2024.02.002

The establishment of the Department of Rare Diseases at Peking Union Medical College Hospital(PUMCH)is a landmark in the disciplinary development of the rare diseases.The establishment of the department will booster the prominence of the influence and leading position of the PUMCH in the field of rare diseases.In addition,the department is instrumental in the development of the hospital of high-quality.The department aims at delivery of better medical care for patients with rare diseases,the training of special-ists in rare diseases,and avancement of the preventing and treating rare diseases in China.This paper pre-liminarily discusses the working basis,significance and discipline development plan of the department of rare diseases at PUMCH.

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Consideration on"Patient-Centered"Drug Development for Rare Diseases

Ling TANG ; Xing AI ; Tian ZHAO ; Zhimin YANG

JOURNAL OF RARE DISEASES.2024;3(2):168-174. doi:10.12376/j.issn.2097-0501.2024.02.003

The unmet clinical needs of patients with rare diseases persist.Many rare diseases lack effec-tive treatments,and drug development for rare diseases faces greater challenges than that for common multiple diseases.In recent years,the concept of"patient-centered"drug development has been widely adopted.The Center for Drug Evaluation(CDE)of the National Medical Products Administration has successively issued a series of relevant guiding principles,such as the Technical Guidelines for the Implementation of Patient-Centered Clinical Trials,to promote a"patient-centered"drug development model.The implementation of the"patient-centered"approach in rare disease drug research and development,with a focus on patient perspectives and ac-tive engagement,can effectively facilitate a comprehensive understanding of rare diseases and patient needs among drug research and development enterprises,researchers,and regulatory agencies.This approach also en-hances the accuracy and efficiency of rare disease drug research and development.The CDE will continue to pri-oritize the integration of the"patient-centered"concept into rare disease drug research and development,effec-tively enhance the involvement of rare patients in the drug research and development process,and leverage the guiding role of patients'perspectives on drug research and development.

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Application of Decentralized Clinical Trials in the Research and Development of Drugs for Rare Diseases

Huanhuan CUI ; Ling TANG ; Can CUI ; Zhuxing YAO ; Zhimin YANG ; Haixue WANG

JOURNAL OF RARE DISEASES.2024;3(2):175-180. doi:10.12376/j.issn.2097-0501.2024.02.004

Clinical trials of drugs for rare diseases face special challenges such as a limited number of patients,difficult recruitment,long trial period,and frequent video interviews during the trial.Therefore,in the clinical operation of rare diseases,a decentralized clinical trials(DCT)model based on the"patient-cen-tred"research and development concept is implemented.With the help of decentralized elements and digital health technology,the barriers of geographical restrictions can be overcome and subjects do not have to be limit-ed to traditional clinical trial sites(hospitals/research centers),which can significantly reduce the burden on subjects,increase their representation,and obtain a wider range of scientific research data.To guide the indus-try's scientific and standardized application of DCT in the research and development of drugs for rare diseases,the Center for Drug Evaluation of the National Medical Products Administration(NMPA)organized the stake holders to draft the Technical Guideline for the Application of Decentralized Clinical Trials in the Research and Development of Drugs for Rare Diseases.This guideline provides scientific recommendations for the development and implementation of DCT for rare disease drugs.It aims to solve the difficult and key problems during rare disease drug research and development,improve the efficiency and optimize patient experience.This article,combining the research and development concepts in the guideline,explains the current research and develop-ment thinking on the application of DCT in the research and development of rare disease drugs,with a view of providing reference for the industry.

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Elements for Ethic Review of Clinical Trials for Rare Disease Drugs

Hua BAI

JOURNAL OF RARE DISEASES.2024;3(2):181-186. doi:10.12376/j.issn.2097-0501.2024.02.005

In the past decade,with the implementation of policies to promote the research and develop-ment of rare disease drugs,the increase in the number of clinical trials for rare disease drugs has posed new challenges to ethical review.Clinical trials of rare disease drugs involve vulnerable populations with a small number of patients,scattered populations,and relative concentration in certain disease areas.The trials are mainly conducted in the early stages,often requiring small sample sizes,single arm designs,and more new technologies such as cellular and gene therapy.In addition to meeting the general requirements of clinical trials for common diseases,ethical review should also give special attention to the special characteristics of rare disea-ses in risk benefit assessment,research design,informed consent,trial operation,etc.Ethical review of clinical trials for rare diseases should effectively promote the development of new drugs for rare diseases and protect the rights and interests of participants.By analyzing the characteristics of clinical trials for rare diseases drugs,this paper presents the points of special concern during the review,aiming to improve the level of ethical review for clinical trials of drugs related to rare diseases.

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Advances in the Diagnosis and Treatment of Cushing's Syndrome

Cen LIU ; Zinan ZHAO ; Di CHEN ; Xin HU

JOURNAL OF RARE DISEASES.2024;3(2):187-194. doi:10.12376/j.issn.2097-0501.2024.02.006

Cushing's syndrome(CS),an endocrine disorder resulting from excessive glucocorticoid se-cretion by the adrenal cortex,poses significant challenges to both diagnosis and treatment.The diagnostic process involves comprehensive evaluation,combining laboratory tests and imaging studies for screening,quali-fication,and localization.Surgical intervention remains the primary treatment approach,although pharmacologi-cal therapy also plays a crucial role.With an increasing understanding of the pathogenesis of CS,more potential targets for orphan drug development have been discovered.This article summarizes the current status of diagnosis and treatment for CS and provides an outlook on future research directions.

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Study on Drug List and Accessibility of Rare Diseases Based on the China's Second List of Rare Diseases

Qingyang LIU ; Xin LIU ; Wei ZUO ; Shaohong WANG ; Bo ZHANG ; Shuyang ZHANG

JOURNAL OF RARE DISEASES.2024;3(2):195-201. doi:10.12376/j.issn.2097-0501.2024.02.007

Objective This study aims to sort out the rare disease drugs in the China's Second List of Rare Diseases,to provide reference for the management of rare disease drug treatment.Methods Up to December 31,2023,based on the China's Second List of Rare Diseases,we sorted out the drugs approved in China with the drug label,or approved by the U.S.Food and Drug Administration(FDA)and the European Medicines Agency(EMA)for the treatment of the above diseases,and developed the second batch of rare dis-ease drug catalog in China.The accessibility,localization and coverage of the national medical insurance were also analyzed.Results From the point of view of diseases,a total of 37 diseases in the China's Second List of Rare Diseases have drug indications approved in China,and 10 diseases have drugs listed by the U.S.FDA/EMA and approved in China,but for off-label use.From the point of view of drugs,there are 55 drug indications ap-proved for the treatment of the China's Second List of Rare Diseases,and 22 drugs listed in the U.S.FDA/EMA and approved in the China,but for off-label use.Among the above-mentioned drugs with domestic approved rare disease indications or approved numbers,39 drugs have at least one domestic approval number for a dosage form,covering 30 rare diseases;37 drugs used for at least one rare disease are included in the national medical insur-ance catalog and are covered by reimbursement,covering 29 rare diseases.Conclusions The list of rare disease drugs in the China's Second List of Rare Diseases was established.The number of rare disease drugs and covered diseases approved by China and the U.S.FDA/EMA has increased,and the number of rare disease drugs and covered diseases that are localized and included in the medical insurance catalog has also continued to increase.

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Overview and Analysis of Rare Disease Drugs Approved for Market in China,the United States,the European Union,and Japan in 2023

Shaohong WANG ; Xin LIU ; Qingyang LIU ; Yan TANG ; Bo ZHANG

JOURNAL OF RARE DISEASES.2024;3(2):202-213. doi:10.12376/j.issn.2097-0501.2024.02.008

Objective To summarize and analyze what the listing in market of orphan drugs in China,the United States,the European Union,and Japan in 2023,and to provide empirical reference to Chinese phar-maceutical enterprises,pharmaceutical management,and new drug research and development departments.Methods Collect the 2023 drug market data released by official drug regulatory agencies in four countries and international organization-China,the United States,the European Union,and Japan categorize the market of rare disease drugs and and their indications,approval dates,R&D status in China,component therapeutic are-as,and special review and approval pathways were analyzed.Results Findings in 2023,28 orphan drugs were listed in the United States,mostly anti-tumor related,accounting for 32.1％(9 out of 28);17 orphan drugs were listed in the European Union,anti-tumor related accounting for 47.0％(8 of 17);22 listed in Japan;and 45 listed in China.In 2023,over 70％orphan drugs listed in the European Union and Japan entered the phase of clinical trials/marketing and applications/approved clinical applications in China(86.4％from Japan and 70.6％from European Union).Conclusions Currently,there is no qualification accreditation mechanism for orphan drugs in China.However,in 2023,the number of rare disease drugs listed in China was the greatest among the four countries/international organization.It reflects that China's Catalog for Rare Diseases played a guiding role in drug research and development.Meanwhile,the reform of drug approval and review in China and the issue of rare disease catalogs took place in a short period of time,so the review and approval,as well as re-search and development of rare disease drugs are still in the catching up stage.

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Literature Review of Using Bisphosphonates in the Treatment of Calciphylaxis

Chunsu LIANG ; Shaohong WANG ; Yizhou ZHANG ; Xin LIU ; Ziran NIU ; Yili SHI ; Bo ZHANG

JOURNAL OF RARE DISEASES.2024;3(2):214-220. doi:10.12376/j.issn.2097-0501.2024.02.009

Objective To analyze the effectiveness and safety of bisphosphonates in the treatment of pa-tients with calcification defense.Methods PubMed,Embase databases,CNKI and Wanfang were searched to collect the case reports and clinical studies of bisphosphonates for calcification defense.Then,the relevant infor-mation of patients was extracted for statistical analysis.Results A total of 18 case reports were selected involving 20 patients.Thirteen patients(65.0％)were treated with pamidronate,four(20.0％)were treated with etidr-onate,two(10.0％)were treated with alendronate,and one(5.0％)was treated with zoledronic acid.Thirteen patients(65.0％)recovered completely,the recovery time of whom ranged from half month to nine months.The tolerance of bisphosphonates in most patients(90.0％)was good,while one patient who did not tolerate pamidr-onate recovered after the frequency of administration was adjusted and one patient with high dosage of etidronate returned to normal after the discontinuation of the usage.Conclusions Bisphosphonates,an inhibitor of bone resorption,is effective and safe in the treatment of patients with calcification defense.

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Aphasia in Right Hemiparesis and Pain in Left Waist:A Deceiving Case in Vascular Ehlers-Danlos Syndrome

Yining FU ; Jingmin ZHOU ; Feng LI ; Shangzhi HUANG ; Yining WANG ; Xia HONG ; Ke LYU ; Yaping LIU ; Ling LENG ; Wenjie ZHENG ; Zhengqing QIU ; Yicheng ZHU ; Yuehong ZHENG ; Yuexin CHEN

JOURNAL OF RARE DISEASES.2024;3(2):224-231. doi:10.12376/j.issn.2097-0501.2024.02.011

The Ehlers-Danlos syndrome(EDS)is a rare inherent connective tissue disorder.The prev-alence of EDS in the population is estimated at one out of ten thousand to one out of a hundred thousand.The vascular EDS(vEDS)are rare among the subtypes but are the worst in prognosis.The article reports a case of vEDS admitted to the hospital.The patient was a young man complaining of a sudden onset of aphasia in right hemiparalysis and severe left abdominal pain for unknown reasons.The diagnosis was made after the genetic testing.The patient suffered from vEDS.Then,the multi-disciplinary team(MDT)made a treatment plan tailored to this young patient.The complexity in classification and delusive presentations of the EDS make the correct diagnosis very challenging.This article hopes to report this case and to share the experiences to the bet-ter understanding of this disease.

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