Day 1 :
Keynote Forum
Leyla Camarillo-Blancarte
General Directorate of Epidemiology, Ministry of Health of Mexico
Keynote: The Challenge of Rare Diseases in Mexico
Biography:
Leyla Camarillo is a knowledgeable articulate communicator with several years of experience across healthcare and, improving evaluation and training techniques in the country. Maintain strong decision-making and problem-solving abilities, as well as excellent time-management, data research, situation analysis proficiencies and, strengthening the program. Effectively train partners in network based management systems and procedures is her main goal.
Abstract:
The US defines a rare disease (RD) as one that affects fewer than 200,000 people or less than 1:2,000 people in Europe. Individual RDs affect less than 5-7 individuals in 10,000, but collectively affect 6%-8% of the global population. The incidence of RDs in Mexico varies according to the source, vr.gr. the Mexican Federation of Rare Diseases is 1:8,000newborns, the National Pediatric Institute of the Ministry of Health refers that is higher Ì´1:1,500newborns and only 3% get an early diagnsosis. The Mexican Organization of Rare Diseases states that there are 6million. The incidence rate (IR) of neural tube and craneofacial defects varies anually, 8.7, and 5.1 respectively in 2016 and, 3.5 and 7.3 in 2017; microcephaly´s IR was 0.95 and 2.6 in 2016-2017.
There are more than 640 disease registries in the Orphanet database and less than 150 RDs have a marketed drug. The Ministry of Health of Mexico has one federal registry specially for birth defects: “Epidemiological Surveillance System of Neural Tube and Craneofacial Defects” since 1989, and last year the undersecretariat Prevention and Health Promotion announced that there would be a specific registry for RDs. There are more information systems where birth defects are eventually notified.
In 2014 the EU health expenditure amounted to 9-11% of its GDP, for the OECD countries it was 6.6% and, in Mexico 2.7% for the 2006-2017 period.
The Mexican Health System is comprised by public and private health institutions headed by the Ministry of Health, there are only four complusory notifiable RDs in the newborn screening programme, but every health institution can provide a wider screening according to its own policies. In average, it takes more than 5 years to diagnose a RD and more to provide treatment despite research being conducted.
- Different types of Rare Diseases
Location: Boston, Massachusetts, USA
Session Introduction
Fizza Batool
student,researcher,volunteer(seminars/workshop sdpi),sales marketing CPEC project,ISLAMABAD,PAKISTAN
Title: Rare Diseases and Orphan Drugs (a synthetic pharmaceutical which remains commercially undeveloped
Biography:
Fizza Batool has completed pre-medical.she is a student,researcher and volunteer with organizations also doing marketing managing.she her expertise in evaluation and passion in improving the health and wellbeing with an opportunity to gain experience and knowledge. She has built this model after years of experience in research, evaluation,workshops,seminars and administration all are in organizations and educational institutions. she has a good talent in this pathway and has a different way of focusing she has a very goood experience to show.
Abstract:
The word orphan comes from the Greek word orphanos, a child who has lost one parent or both, or an adult who has lost a child. It goes back to the putative Indo-European root ORBH, bereft, as in the Latin word orbus. The obsolete English words orbation and orbity meant orphanhood or childlessness..In modern English the word orphan is most commonly used in its original Greek sense, but metaphorical meanings have also emerged. An orphan vehicle, for example, is a discontinued model, and an orphan is a line of type that begins a new paragraph at the bottom of a column or page. In the last 20 years efforts have been made to encourage companies to develop orphan drugs. The Orphan Drug Act in the USA (1983) was succeeded by similar legislation in Japan (1985), Australia (1997), and the European Community (2000) [9]. The encouragement takes three forms: tax credits and research aids, simplification of marketing authorization procedures, and extended market exclusivity [9, 13]. In Europe only the last is available.In this issue of the Journal, Joppi et al. show how slow the development of orphan drugs in Europe was during the four years after the introduction of legislation that allowed a drug to be designated an orphan on the basis of rarity of the disease, a plausible mechanism of action, and likelihood of benefit Of 255 applications to EMEA, only 18 were approved for marketing, and in many cases the supporting studies were poorly designed. This contrasts with reported experience from the USA, where between 1983 and 2002 nearly 1100 drugs and biological products were designated orphan products and 231 were approved. This difference may be due to lack of incentives in Europe compared with the USA, although without directly comparing the two sets of dossiers we cannot know whether there were other reasons; such a comparison would be justified.
Dr. Rizwan Arshad
Patron in chief, PPHA, Pakistan
Title: Access to Orphan drugs: Eradication of spurious drugs channels though forming Global Health Network
Biography:
As public health speaker and professional Rizwan Arshad has over 12 years of experience in providing services for humanity and mankind. He is actively engaged in community health and advocacy projects. Also worked in close coordination with Authorities of Pakistan on rare and chronic disease model for the betterment and more creative solutions for rare disease patients. His passion is to bring in the global health models to Pakistan and to eradicate all the spurious drugs and channelized the ways for better well-being.
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Abstract:
Statement of the Problem: In Pakistan the rare disease reported patients are facing problems on access of quality and affordable medicines. Due to expensive treatments some patient’s loss their life due to inadequate support from the authorities, pharma industries and health professionals or if some manage to afford they are unable to get the quality medicines for their rare diseases. The main challenge in Pakistan is that medical science become helpless at many times against a rare disease and the situation become horrendous both for the patients and their family members. There is nothing more agonizing for a patient and his family than to know that the disease he is suffering from has no known cure, if cure exist than treatment cost would certainly don’t save the lives due to patients non affordability. Is the medical world really helpless in such cases or is it because health professionals are not armed to combat these rare diseases?? The purpose of this study is to answer such questions. The main dilemma here is also to find the quality orphan drugs according to regulations of authorities. So the need has been arisen through the existing scenario of timely access to orphan drugs in affordable prices within quality control measures and through proper regulatory channels. Findings: The global health network access model has formed in result to the factors of the study which facilitate patients in accessing medicines which are not registered or unavailable in home country. This model used their network for legal importation through quality control measures of innovative life-saving medicines which are available in developed countries. such life-saving medicines are typically difficult to access in Pakistan where market authorization has not been obtained. Conclusion
& Significance: This paper showed up the holistic approach of patients accessing rare diseases treatments through global health access model and finding their treatment solutions though proper workflows with global collaborations.
Fizza Batool
student,researcher,volunteer(seminars/workshop sdpi),sales marketing CPEC project,ISLAMABAD,PAKISTAN
Title: A step towards advancement in the research and treatment of rare diseases(orphan drugs disease)
Biography:
Fizza Batool has completed pre-medical.she is a student,researcher and volunteer with organizations also doing marketing managing.she her expertise in evaluation and passion in improving the health and wellbeing with an opportunity to gain experience and knowledge. She has built this model after years of experience in research, evaluation,workshops,seminars and administration all are in organizations and educational institutions. she has a good talent in this pathway and has a different way of focusing she has a very goood experience to show.
Abstract:
The word orphan comes from the Greek word orphanos, a child who has lost one parent or both, or an adult who has lost a child. It goes back to the putative Indo-European root ORBH, bereft, as in the Latin word orbus. The obsolete English words orbation and orbity meant orphanhood or childlessness..In modern English the word orphan is most commonly used in its original Greek sense, but metaphorical meanings have also emerged. An orphan vehicle, for example, is a discontinued model, and an orphan is a line of type that begins a new paragraph at the bottom of a column or page. In the last 20 years efforts have been made to encourage companies to develop orphan drugs. The Orphan Drug Act in the USA (1983) was succeeded by similar legislation in Japan (1985), Australia (1997), and the European Community (2000) [9]. The encouragement takes three forms: tax credits and research aids, simplification of marketing authorization procedures, and extended market exclusivity [9, 13]. In Europe only the last is available.In this issue of the Journal, Joppi et al. show how slow the development of orphan drugs in Europe was during the four years after the introduction of legislation that allowed a drug to be designated an orphan on the basis of rarity of the disease, a plausible mechanism of action, and likelihood of benefit Of 255 applications to EMEA, only 18 were approved for marketing, and in many cases the supporting studies were poorly designed. This contrasts with reported experience from the USA, where between 1983 and 2002 nearly 1100 drugs and biological products were designated orphan products and 231 were approved. This difference may be due to lack of incentives in Europe compared with the USA, although without directly comparing the two sets of dossiers we cannot know whether there were other reasons; such a comparison would be justified.
Alba Ancochea
EURORDIS (Rare Diseases EU) and FEDER (RD SP), EU
Title: Measuring the impact of Diagnosis and Treatment of Rare Diseases
Biography:
Alba Ancochea is the CEO of Spanish Federation of Rare Diseases and its Foundation. She is a EURORDIS board of Directors member , as well as member of the Rare Diseases International Advocacy Working Group, member of the DITA (Drug Information ,Transparency and Access) Task Force, representative of the Council of National Alliances and supporting the Ibero-American Alliance of RD. She belongs to the CIBERER (Spanish Biomedical Research Consortium on RD )Scientific Advisory Board. She has completed undergraduate and masters studies in psychology, special needs teaching and management of NGOs.
Alba is a graduate of the EURORDIS Summer School and EUPATI expert training course among other qualifications. She represents PLWRD in a dozen of Work Committees and national and international projects regarding National Strategy, Centers of Expertise, access to Orphan Medicinal Products, treatment and research on RD. She is also teacher in Socio-Health Masters and other courses related with RD.
Abstract:
Statement of the Problem: Knowlegde on the impact of Rare Diseases on people living with a RD and their families’ lifes is essencial to draft the value of diagnosis, treatment and health care. There has been a significante aceleration in diagnosis and treatment development, but their impact on people lifes can’t be assumed. The 2nd study “Spanish People Leaving with a Rare Diseases(PLWRD) social needs” compares and analizes the diagnosis delay and its consequences as well as treatment dificulties between 2009 que 2017. Outcomes from other RD impact Surveys, are also analized and compared.
Methodology
1,576 questionnaires have been collected for PLWRD and their families, more than double collected in the first study in 2009. Furthermore 8 discussion groups and 14 interviews have been conducted.
Main Findings:. As in 2009, half of the people surveyed have been delayed in their diagnosis; almost 1 of every 5 people with Rare Diseases (19%) has taken more than 10 years to get it and a similar percentage (18%) between 4 and 9 years. More than a third of the people studied say they have difficulties accessing the medical devices or medicines they need, mainly due to their high price, the absence or withdrawal of the product or bureaucratic problems. This situation has worsened compared to 2009, when was a quarter of the population studied who have difficulties for this access.
s. Conclusion & Significance: Obtaining a diagnosis is a determining factor for proper medical and health care, which can include symptom-driven treatments, prevention strategies, and avoidance of unnecessary interventions. Although the new diagnostic technologies for better management of diseases are promising, their impact on clinical practice is still limited. Understanding of the genetic basis of diseases, coupled with advances in biotechnology and drug development, have led to progress, nevertheless patients can benefit only to the degree that they have access to tests and interventions.