scholarly journals Time for Change? The Why, What and How of Promoting Innovation to Tackle Rare Diseases – Is It Time to Update the EU’s Orphan Regulation? And if so, What Should be Changed?

2020 ◽  
Vol 5 (2) ◽  
pp. 1-11
Author(s):  
Denis Horgan ◽  
Barbara Moss ◽  
Stefania Boccia ◽  
Maurizio Genuardi ◽  
Maciej Gajewski ◽  
...  
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Orphan Drugs ◽  
Regulatory Pathways ◽  
Regulatory Systems ◽  
Strategic Plans ◽  
The Us ◽  
Deliberative Processes ◽  
Process Coordination

Since developments are global in the healthcare arena, more should be done to align EU and other big markets’ regulatory practices for rare disease patients. Notwithstanding efforts and cooperation between the US and EU aimed to harmonize their strategic plans in the field of orphan drugs, regulatory criteria and procedures to gain the designation, terms and classifications should be still harmonised. Aligning the criteria of prevalence and support to orphan medicines in the various jurisdictions internationally, would facilitate patient recruitment eventually at global level, so as to gain the data and the biological insights required to identify biomarkers and appropriate endpoints needed for progressing clinical development. A conducive regulatory environment can further support the development of medicines to treat rare diseases. Overall there is a need for joined-up regulatory process coordination. Better integration of regulatory pathways and better integration of regulatory systems, such as scientific tools and methods to generate evidence, would be helpful. There is a need to revise and agree the current frameworks to be improved which will take into account the considerations and challenges to diagnose and treat different rare diseases and improve quality of life. Deliberative processes with multi-stakeholders’ involvement for reimbursement should be considered. This paper explores the successes and limitation of both the regulation and its implementation mechanisms in the current regulatory context, and suggests some improvements that could maximise its benefits and boost rare disease research even further.

VP21 Factors Associated With Recommendations On Drugs For Rare Diseases

2018 ◽  
Vol 34 (S1) ◽  
pp. 164-164
Author(s):  
Fernanda Inagaki Nagase ◽  
Jian Sun ◽  
Tania Stafinski ◽  
Devidas Menon
Keyword(s):  
Quality Of Life ◽  
Rare Diseases ◽  
External Validity ◽  
Treatment Cost ◽  
Orphan Drugs ◽  
Clinical Safety ◽  
Factors Associated ◽  
Drug Review ◽  
Positive Recommendation

Introduction:In Canada, reimbursement recommendations on drugs for common and rare indications (for example, orphan drugs) are made through the pan-Canadian Oncology Drug Review (pCODR) and the Common Drug Review (CDR). However, some stakeholders have called for a separate mechanism for orphan drugs, arguing that existing processes place too much weight on their high price tags. The purpose of this study was to examine factors associated with positive recommendations on drugs for rare diseases.Methods:Information was extracted from CDR and pCODR recommendations on drugs for diseases (prevalence of less than 1 in 2,000) up to April 2018. Univariate and multivariate logistic regression models were applied to explore the influence of the following variables on recommendations: year; prevalence; clinical safety and effectiveness (safety, quality of life, symptoms, surrogate outcomes, and survival); quality of evidence (availability of comparative data, external validity, and bias); unmet need; treatment cost; and incremental cost-effective ratio (ICER). Two-way interactions were also tested.Results:Of 128 recommendations, fifty-four (77 percent) and forty (69 percent) were positive for cancer and non-cancer indications, respectively. For cancer indications, all submissions reporting meaningful improvements in surrogate, quality of life, and survival outcomes were significantly more likely to have a positive recommendation. Submissions showing a lack of external validity were significantly less likely to receive a positive recommendation. For non-cancer indications, more recent submissions and those presenting no safety issues were associated with positive recommendations. Prevalence, treatment cost, and ICER were not determinants of positive or negative recommendations.Conclusions:For both cancer and non-cancer orphan drugs, impact on clinical safety and effectiveness, rather than cost, appears to be a key factor in the formulation of recommendations.

scholarly journals Narrative Braiding and the Role of Public Officials in Transforming the Publics Conflicts

2013 ◽  
Vol 1 (1) ◽  
pp. 4 ◽  
Author(s):  
Sara Cobb
Keyword(s):  
Problem Solving ◽  
Wicked Problems ◽  
Public Deliberation ◽  
Comet Tail ◽  
Public Officials ◽  
The Us ◽  
The Government ◽  
Deliberative Processes

Deliberative processes should enable public officials to stay connected to the changing needs and interests of the communities for whom and with whom they work. Theoretically, these practices should enable public officials to help citizens negotiate with each other, and with the government, problem-solving in a way that produces timely solutions to the kinds of wicked problems that are critical to governing in the globalized context where media sensationalizes divisions that create the Us as different from Them. Theoretically, these practices should enable public officials to foster a quality of relationships within a community that supports the community to learn about itself, to become a reflecting community (Laws, 2010). However, it is all too often the case that these practices enact the form of engagement only, without significantly altering the nature of relationships or the (his)stories that are the comet tail of wicked problems. This paper offers a narrative lens on deliberation, describing a practice called braiding, which would allow public officials to weave together the storylines and the identities that anchor them, creating the conditions for public deliberation that could actually transform the publics conflicts.

scholarly journals Rare disease awareness and perspectives of physicians in China: a questionnaire-based study

2020 ◽  
Author(s):  
Xuefeng Li ◽  
Xiangyu Zhang ◽  
Shu Zhang ◽  
Zijuan Lu ◽  
Jianyong Zhang ◽  
...  
Keyword(s):  
Medical School ◽  
Rare Disease ◽  
Rare Diseases ◽  
Strong Support ◽  
Orphan Drugs ◽  
School Education ◽  
Sufficient Information ◽  
Medical School Education ◽  
Disease Awareness ◽  
Career Length

Abstract Background There are over 16.8 million rare disease patients in China, representing a significant challenge for the healthcare system and society. Rare disease patients often experience delayed diagnosis, misdiagnosis, or improper treatment, which may be due to the lack of rare disease awareness among physicians. Results A total of 224 physicians from different hospitals in China participated in the questionnaire, and 9 rare disease experts were interviewed with open-ended questions. Most physicians (83.5%) were from Tertiary hospitals, which have over 500 beds. Only 5.3% of physicians were moderately or well aware of rare diseases. Most physicians (80.1%) had suspected their patients to have rare diseases less than 3 times. There was a strong support for special legislations for rare diseases and orphan drugs. Further, multinomial logistic regression (MLR) was used to determine whether hospitals, gender, and career length has an impact on perspectives and awareness. It was shown that male physicians were more likely to think newborn screening is important (p<0.05). The longer the career length is, the more likely physicians believe that their previous education has not provided sufficient information about rare diseases and that their hospital has paid enough attention to rare diseases. Physicians from Tertiary A hospitals were more likely to rate the affordability of orphan drugs high. In addition, nine experts believed that rare disease awareness is essential for early diagnosis and timely treatment. These experts also made recommendations on how to improve rare disease awareness through medical school education and continuing training. Conclusions Our study highlighted the importance of improving rare disease awareness among physicians in China. Recommendations about how to improve rare disease awareness in medical school education and establish an online ‘information hub’ are made for considerations of policy-makers.

scholarly journals Prioritizing Rare Diseases: Psychological Effects Influencing Medical Decision Making

2017 ◽  
Vol 37 (5) ◽  
pp. 567-576 ◽  
Author(s):  
Johanna Wiss ◽  
Lars-Ake Levin ◽  
David Andersson ◽  
Gustav Tinghög
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Orphan Drugs ◽  
Postal Survey ◽  
Psychological Effects ◽  
Medical Decision ◽  
Common Disease ◽  
Common Diseases ◽  
General Preference ◽  
Societal Preferences

Background. Measuring societal preferences for rarity has been proposed to determine whether paying premium prices for orphan drugs is acceptable. Objective. To investigate societal preferences for rarity and how psychological factors affect such preferences. Method. A postal survey containing resource allocation dilemmas involving patients with a rare disease and patients with a common disease, equal in severity, was sent out to a randomly selected sample of the population in Sweden (return rate 42.3%, n = 1270). Results. Overall, we found no evidence of a general preference for prioritizing treatment of patients with rare disease patients over those with common diseases. When treatment costs were equal, most respondents (42.7%) were indifferent between the choice options. Preferences for prioritizing patients with common diseases over those with rare diseases were more frequently displayed (33.3% v. 23.9%). This tendency was, as expected, amplified when the rare disease was costlier to treat. The share of respondents choosing to treat patients with rare diseases increased when presenting the patients in need of treatment in relative rather than absolute terms (proportion dominance). Surprisingly, identifiability did not increase preferences for rarity. Instead, identifying the patient with a rare disease made respondents more willing to prioritize the patients with common diseases. Respondents’ levels of education were significantly associated with choice—the lower the level of education, the more likely they were to choose the rare option. Conclusions. We find no support for the existence of a general preference for rarity when setting health care priorities. Psychological effects, especially proportion dominance, are likely to play an important role when preferences for rarity are expressed.

scholarly journals Rare disease awareness and perspectives of physicians in China: a questionnaire-based study

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Xuefeng Li ◽  
Xiangyu Zhang ◽  
Shu Zhang ◽  
Zijuan Lu ◽  
Jianyong Zhang ◽  
...  
Keyword(s):  
Medical School ◽  
Rare Disease ◽  
Rare Diseases ◽  
Strong Support ◽  
Orphan Drugs ◽  
School Education ◽  
Sufficient Information ◽  
Medical School Education ◽  
Disease Awareness ◽  
Career Length

Abstract Background It is estimated that there are over 16.8 million rare disease patients in China, representing a significant challenge for the healthcare system and society. Rare disease patients often experience delayed diagnosis, misdiagnosis, or improper treatment, which may be due to the lack of rare disease awareness among physicians. Materials and methods A total of 224 physicians from different hospitals in China participated in the questionnaire, and 9 rare disease experts were interviewed with open-ended questions. Results Most physicians (83.5%) were from Tertiary hospitals, which have over 500 beds. Only 5.3% of physicians were moderately or well aware of rare diseases. Most physicians (80.1%) had suspected their patients to have rare diseases less than 3 times. There was a strong support for special legislations for rare diseases and orphan drugs. Further, multinomial logistic regression (MLR) was used to determine whether hospitals, gender, and career length has an impact on perspectives and awareness. It was shown that male physicians were more likely to think newborn screening is important (p < 0.05). The longer the career length is, the more likely physicians believe that their previous education has not provided sufficient information about rare diseases and that their hospital has paid enough attention to rare diseases. Physicians from Tertiary A hospitals were more likely to rate the affordability of orphan drugs high. In addition, nine experts believed that rare disease awareness is essential for early diagnosis and timely treatment. These experts also made recommendations on how to improve rare disease awareness through medical school education and continuing training. Conclusions Our study highlighted the importance of improving rare disease awareness among physicians in China. Recommendations about how to improve rare disease awareness in medical school education and establish an online ‘information hub’ are made for considerations of policy-makers.

scholarly journals Rare disease awareness and perspectives of physicians in China: a questionnaire-based study

2020 ◽  
Author(s):  
Xuefeng Li ◽  
Xiangyu Zhang ◽  
Shu Zhang ◽  
Zijuan Lu ◽  
Jianyong Zhang ◽  
...  
Keyword(s):  
Medical School ◽  
Rare Disease ◽  
Rare Diseases ◽  
Strong Support ◽  
Orphan Drugs ◽  
School Education ◽  
Sufficient Information ◽  
Medical School Education ◽  
Disease Awareness ◽  
Career Length

Abstract Background: It is estimated that there are over 16.8 million rare disease patients in China, representing a significant challenge for the healthcare system and society. Rare disease patients often experience delayed diagnosis, misdiagnosis, or improper treatment, which may be due to the lack of rare disease awareness among physicians. Materials and Methods: A total of 224 physicians from different hospitals in China participated in the questionnaire, and 9 rare disease experts were interviewed with open-ended questions.Results: Most physicians (83.5%) were from Tertiary hospitals, which have over 500 beds. Only 5.3% of physicians were moderately or well aware of rare diseases. Most physicians (80.1%) had suspected their patients to have rare diseases less than 3 times. There was a strong support for special legislations for rare diseases and orphan drugs. Further, multinomial logistic regression (MLR) was used to determine whether hospitals, gender, and career length has an impact on perspectives and awareness. It was shown that male physicians were more likely to think newborn screening is important (p<0.05). The longer the career length is, the more likely physicians believe that their previous education has not provided sufficient information about rare diseases and that their hospital has paid enough attention to rare diseases. Physicians from Tertiary A hospitals were more likely to rate the affordability of orphan drugs high. In addition, nine experts believed that rare disease awareness is essential for early diagnosis and timely treatment. These experts also made recommendations on how to improve rare disease awareness through medical school education and continuing training. Conclusions: Our study highlighted the importance of improving rare disease awareness among physicians in China. Recommendations about how to improve rare disease awareness in medical school education and establish an online ‘information hub’ are made for considerations of policy-makers.

The Novel Drugs of 2015 – An Extraordinary Growth of Innovative Pharmaceuticals

2016 ◽  
Vol 9 (4) ◽  
pp. 3331-3336
Author(s):  
D. Samba Reddy ◽  
Savitha Reddy
Keyword(s):  
Rare Diseases ◽  
Prescription Drugs ◽  
Orphan Drugs ◽  
Pharmaceutical Products ◽  
New Drugs ◽  
Regulatory Review ◽  
Regulatory Pathways ◽  
Novel Drugs ◽  
Drug Approvals ◽  
Tract Infections

The FDA has approved 45 new drugs in 2015, a record approval in two decades, indicating another year of excellent innovation and productivity. There are many regulatory pathways at the FDA for the approval of novel drugs. Sixteen drugs (36%) were First-in-Class with a new or unique mechanism of action for treating a disease. About 29% of the new drugs are biologics. Moreover, 21 of 45 (47%) are orphan drugs for the treatment of rare diseases. The FDA approved many new drugs to treat various forms of cancer, urinary tract infections, chronic hepatitis C, cystic fibrosis, irritable bowel syndrome, heart failure, and high cholesterol, as well as the first approved reversal agent for a commonly-used blood thinner.  For the second consecutive year, the FDA approved more “orphan” drugs for rare diseases than any previous year in recent history. From 2006 through 2014, the FDA averaged about 28 novel drug approvals per year. Such products represent innovation and provide important new therapies for patients worldwide. Despite such record new drug approvals, there is a continued productivity crisis in R&D due to a progressive rise in cost for drug discovery and development. The U.S. pharmaceutical market is forecasted to reach $548 billion by 2020. The prices appear to be increasing faster for generic and branded prescription drugs. Overall, faster development and regulatory review contributed to a spike in record approval of innovative pharmaceutical products in 2015

scholarly journals Measuring health-related quality of life in patients with rare disease

2021 ◽  
Vol 5 (1) ◽  
Author(s):  
William R. Lenderking ◽  
Milena Anatchkova ◽  
Robin Pokrzywinski ◽  
Anne Skalicky ◽  
Mona L. Martin ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Drug Development ◽  
Rare Disease ◽  
Rare Diseases ◽  
Main Body ◽  
Health Related Quality ◽  
Improve Measurement ◽  
Related Quality ◽  
Health Related

Abstract Background There has been a growing emphasis on health-related quality of life (HRQoL) as an important outcome in rare disease drug development, although its assessment may be useful outside the drug development context, including in clinical applications or natural history studies. Central to assessing quality of life in health research is utilizing outcome measures that capture symptoms and impacts of the disease and treatment that are important and relevant to patients. Identifying and implementing valid and reliable tools to measure HRQoL in rare diseases poses unique challenges that often require creative solutions. Main body In this commentary, we explore some of the challenges in HRQoL assessment in rare disease, propose solutions, and consider regulatory issues. Some of the solutions discussed entail the use of item banks, adapting existing measures from phenotypically similar disease contexts, use of multi-domain measurement indices, and adapting methods for assessing content validity of existing measures. Current regulatory considerations are discussed and resources outlined. Conclusion Quality of life may be the most important endpoint for patients with rare diseases, and the challenges of valid assessment require effort and innovative thinking specific to each context to improve measurement and clinical outcomes.

scholarly journals Share your rare with care: a patient corner for the European Reference Networks on Rare Disease

2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
F Rubba ◽  
E Montella ◽  
I Carannante ◽  
M C Trummolo ◽  
A Simeone ◽  
...  
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Social Issues ◽  
Orphan Drugs ◽  
University Hospital ◽  
Reference Network ◽  
Disease Heterogeneity ◽  
Health Technologies ◽  
European Reference Network ◽  
Coding Systems

Abstract Background The European Reference Network on Rare Disease (ERN) is focused on providing more equitable care across Europe and creates a network of both medical specialists and patient experts. One relevant objective of the activities planned into the ERNs is to address the economic dimensions of rare diseases in order to develop strategies to improve research and patients' access to orphan drugs (ODs) and highly specialized health technologies. The themes built in these preliminary years were directed toward guidelines and policies concerning reimbursement of ODs and direct provision by the healthcare system. Methods to proceed further in humanization of care we establish involvement of patients' associations in decision making and implementation of clinical practice guidelines. We built in Federico II University Hospital where 12 ERN were aligned a front office corner shared between patients association and hospital direction in order to face the patient difficulties along the pathway. The corner is open three times a week on the morning, with a dedicated phone number. Results Main issues regarded the understanding of the disease and the diagnosis (ie, lack of familiarity with the rare disease, disease heterogeneity, lack of established diagnostic criteria, misdiagnosis,) the development of effective treatments and the need for efficacy along the path way of care (ie, geographical limitations, disease coding systems, ethical and privacy issues). Fewer concerns were about the equity of access and other social pressures. Conclusions In general, in ERN context, few people declared to work in human and social issues, including research on patient's quality of life, patient's awareness, or methods for social support. Our findings demonstrated that Patients were positively affected from the corner initiative: this may ameliorate the use of infrastructures offering services, also that rarely known as national and international biobanking platforms, registries and networks. Key messages Humanization of care issues and strategies are nowadays mandatory in rare diseases. Patients are positively affected from shared initiatives.

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