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Green Synthesis of Nanoparticles in Oligonucleotide Drug Delivery System
Published in Yashwant Pathak, Gene Delivery, 2022
Manish P. Patel, Praful D. Bharadia, Kunjan B. Bodiwala, Mustakim M. Mansuri, Jayvadan Patel
Approximately 30 million persons in the USA alone have orphan or rare diseases. A low population affected with rare diseases caused a major hurdle toward development of these drugs. Oligonucleotides are an emerging delivery system toward patient centric treatment of this type of diseases (Kim et al., 2019).
Rare Diseases Drug Development
Published in Wei Zhang, Fangrong Yan, Feng Chen, Shein-Chung Chow, Advanced Statistics in Regulatory Critical Clinical Initiatives, 2022
Shein-Chung Chow, Shutian Zhang, Wei Zhang
In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people (ODA, 1983). Under this definition, there may be as many as 7,000 rare diseases in the United States. The total number of Americans living with a rare disease is estimated at between 25–30 million. This estimate has been used by the rare disease community for several decades to highlight that while individual diseases may be rare, the total number of people with a rare disease is large. In the United States, however, only a few types of rare diseases are tracked when a person is diagnosed. These include certain infectious diseases, birth defects, and cancers. It also includes the diseases on state newborn screening tests. Because most rare diseases are not tracked, it is hard to determine the exact number of rare diseases or how many people are affected. Rare diseases are also known as orphan diseases because drug companies were not interested in developing treatments under economic (or return of investment) consideration. To overcome this dilemma, in 1983, the United States Congress passed the Orphan Drug Act which created several financial incentives to encourage pharmaceutical companies to develop new drugs for rare diseases (ODA, 1983).
Drug evaluation in children
Published in Evelyne Jacqz-Aigrain, Imti Choonara, Paediatric Clinical Pharmacology, 2021
Evelyne Jacqz-Aigrain, Imti Choonara
A third scientific committee, the Committee for Orphan Medicinal Products (COMP) was created more recently in 2000, with the implementation of the European Orphan Regulation (EC) 141/2000 [2], offering Community incentives for the development of medicines intended for rare diseases. The COMP is in charge of providing opinions on designations as orphan products, providing advice to the Commission on policy for orphan products and liaising at international level on such issues. To be designated as orphan, a medicinal product must be intended for serious diseases affecting no more than 5 per 10,000 citizens in the EU; alternatively, for more frequent diseases, the product must demonstrate that its development would not provide the necessary return on investment. In all cases, if satisfactory methods of treatment already exist for the orphan condition, the product must be of significant benefit over existing therapies for the patients affected.
High levels of blood glutamic acid and ornithine in children with intellectual disability
Published in International Journal of Developmental Disabilities, 2022
Muhammad Wasim, Haq Nawaz Khan, Hina Ayesha, Abdul Tawab, Fazal e Habib, Muhammad Rafique Asi, Mazhar Iqbal, Fazli Rabbi Awan
Screening of IEMs plays a vital role in the early diagnosis and treatment. Different analytical and genetic techniques are now used for the screening like HPLC, GC-MS, MS/MS, LC-MS/MS, Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) etc. (Vatanavicharn et al.2012, Hartmann et al.2006, Yi et al.2011, Giordano et al.2012, Wang et al.2017, Hassan et al.2016, Tarailo-Graovac et al. 2016). IEMs are individually rare but collectively quite frequent disorders in different populations (Wasim et al.2018b). However, due to disease rarity and complex etiology, scientists in most of the developing countries are reluctant to devote their research efforts on such neglected orphan disorders, which is a main reason for scarce data from developing countries including Pakistan in this field.
Rarely mentioned: how we arrived at the quantitative definition of a rare disease
Published in Baylor University Medical Center Proceedings, 2022
The usual reasons that insurance companies develop their own definitions for ‘rare diseases’ is to eliminate eligibility for reimbursement. Instead of covering cystic fibrosis drugs to all CF patients (approximately 30,000 nation-wide) they will select a smaller subset with a specific genetic defect, and the rest of CF patients will have to sue the insurer for reimbursement. Insurers do not use scientific reasons for drafting their own definitions, but the FDA must live within the legal definition. The FDA cannot award an “orphan drug designation” to a drug for a disease that affects more than 200,000 people in the USA. In fact the great majority of orphan drugs target diseases affecting fewer than 40,000 people in the USA. Even though insurer payments for those rarely used treatments are a pittance in comparison to their expenses for hypertension or arthritis drugs, some insurers will deny reimbursement to segments of those tiny patient populations anyway. On the other hand, insurers must stay vigilant about companies promoting ‘off label’ uses of expensive orphan drugs, which is an attempt to enlarge the customer base for a drug while not paying for clinical trials to prove the drug is actually safe and effective for the new use (A. Meyers, personal communication, email, May 18, 2018).
Leveraging proteomics in orphan disease research: pitfalls and potential
Published in Expert Review of Proteomics, 2021
Daniela Braconi, Giulia Bernardini, Ottavia Spiga, Annalisa Santucci
The term ‘orphan disease’ includes two different, though related, concepts: it can be used to describe either diseases that are neglected by doctors and pharmaceutic companies, or diseases that affect only a very small number of individuals, which can be then considered as orphans [1]. Due to such a lack of medical, economic and research interest, frequently paralleled by the lack of available treatment options for the patients, the term ‘orphan disease’ is often used interchangeably with ‘rare disease.’ However, both the American and European laws related to orphan diseases refer to conditions meeting a prevalence-based or a commercial viability definition. In fact, a disease is considered as rare if affecting less than 200,000 persons or less than 1 in 2,000 in USA and Europe, respectively. Under the commercial point of view, orphan diseases are considered an unviable market for the development of therapeutics, and there is no reasonable expectation that the cost of developing and making available drugs for orphan diseases will be recovered from the sales [2,3] and the market is usually seen as unprofitable [4]. In the last decades, efforts have been made to encourage the development of treatments for orphan diseases, such as: tax credits and research aids, simplification of marketing authorization procedures, and extended market exclusivity (only the last one is available in Europe) [1]. Despite incentives such as the orphan designation, only 5% of rare diseases have licensed treatments [5].