4th World Congress on Rare Diseases and Orphan Drugs June 11-12, 2018 Dublin, Ireland

Biography:

Yolande van Bever is a clinical geneticist with expertise in congenital anomalies and syndromes and with a special interest in the field of DSD. She worked in various academic hospitals in the Netherlands and abroad. Since 2004 she is an active team member not only in the clinical genetic staf, but also in various multidisciplinary teams such as the follow up team on surgical congenital anomalies, the neurofibromatosis team and the DSD team. In view of the rapid growing diagnostic genetic possibilities it is important to focus on communication with patients and their caretakers

Abstract:

DSD (Disorders/Differences of Sex Development) comprise a rare group of diseases and abnormalities that can present on different ages and have very variable presenting symptoms. Prenatally discrepancy between genotypic sex and ultrasound phenotype or an abnormal genital as seen by ultrasound. Neonatal or pediatric symptoms can be a genuine ambiguous genital, inguinal (ovotestes) in a girl detected during inguinal hernia surgery, small stature in a 45,X/46 XY girl etc. Others are only detected at puberty or when trying to get pregnant.

There is consensus that patients should be evaluated by multidisciplinary teams and that it is important to involve patients or caretakers in the process of diagnosis and management. Psychological, socio-cultural and economic-organizational aspects play an important role.

Within the group of diagnosis that fall under the term DSD, there are well-known syndromes as Turner syndrome and variants, CAH, or proximal hypospadias, which can have many causes and can present as ambiguous genitalia. Other causes are very rare and may not be easily recognized. Some of these will be presented here. The experience and organization of our team and DSD care in the Netherlands and the place and timing of NGS based diagnostics will be discussed.

For the future it is important to realize the importance of choosing the right words to communicate about the condition, especially also for professionals who have little or no experience with DSD but who are frequently the first to see the patient. Transition from prenatal care to postnatal professionals, from a peripheral clinic to a specialized clinic or from adolescent to adult specialists often offers room for improvement. We should not neglect that in these exciting times of growing diagnostic possibilities

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Synopsis: FCS is a rare genetic disease characterized by extreme hypertriglyceridemia due to high chylomicron accumulation in the plasma. Burden of illness previously reported in the InFOCUS study, showed patients with FCS report psychosocial symptoms including anxiety, fear/worry, cognitive impairment, and physical symptoms including fatigue, abdominal pain, acute and recurrent pancreatitis. Community support and mentorship, either in-person interactions or online patient/caregiver forums, play an important role in helping patients manage their rare disease needs and associated psychosocial challenges. There is little current research assessing the impact of being connected to FCS-specific networks on the quality of life (QoL) in patients with FCS.

Objective: Assess the possible impact of connections and patient/caregiver engagement with patient advocacy groups and social media platforms on QoL of patients with FCS.

Methods: A web-based survey was designed to assess the level of social connectedness for patients/caregivers. Participants identified as having FCS or caregivers for FCS patients, were classified as being ‘actively’ (participating ≥once every 2wks) or ‘passively’ (participating

Results: Preliminary data, from limited participants (n=10), indicate that 70% of respondents were actively connected to peers via FCS-specific networks. Time spent connected to various networks ranged from 7.8-24 months. Respondents reported better overall health after being connected to FCS-specific networks. Patients reported improvements in mental, emotional/psychosocial symptoms related to FCS after being connected. Early data from connected patients showed a trend towards improved social relationships, and higher QoL satisfaction. Evidence from preliminary data indicates respondents show a trend towards reduction in perception of FCS severity.

Conclusion:

Preliminary self-reported data indicates support/connection through FCS-specific networks show a positive-trend in improving overall health and social relationships, and reducing anxiety levels and depression in patients with FCS and their caregivers.

Biography:

Andria Hanbury is a psychologist with a background in quantitative and qualitative methods and applied health services research. Andria works within the Outcomes Research Team at York Health Economics Consortium, leading on NHS and public sector projects and proposals focussed on the use of patient reported outcome measures. Andria previously worked at the University of York, as the lead researcher on an implementation science research program. Andria has also worked as a Lecturer in Psychology and as an Advisor in Quantitative Research Methods for the Higher Education Academy, with responsibility for the development and analysis of large scale psychometric surveys.  Andria has a Ph.D. in Psychology and a Masters in Research Methods and Psychological Assessment.

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Statement of the problem. Challenges in developing patient reported outcomes strategies for orphan drugs include identifying, recruiting and retaining patients in clinical trials, often from multiple countries. Study design issues including identifying suitable end points and comparators, and then how to measure selected end points. Often there will not be a suitable patient reported outcome measure (PRO) already available, leading to the need to invest time and resource in developing a new PRO, or in identifying, adapting and validating existing measures. Nonetheless, PROs, which are an increasingly important endpoint for clinical trials in general, are especially important for rare diseases research, where the patients’ quality of life is often a primary end point. Whilst generic off the shelf PROs do exist, disease specific PROs are preferable in that they pick up on the nuance of living with a specific rare disease, and, essentially, measure what is important to patients. Indeed, researchers and clinicians’ may not always be wholly cognizant of the nuances of living with a rare disease; this is why patient involvement in the development of a PRO is an important criteria on which PROs within trials are judged by regulatory bodies. Recommendations. To facilitate the identification and subsequent development or adaptation and validation of a robust PRO, patient advocacy groups can play a pivotal role in gaining support for a study and advising on patient recruitment. However, expertise is also needed in systematically reviewing PROs to identify whether there are any existing and robust measures available. And, if there are not, psychometric expertise is then also needed in PRO development and or adaptation and validation, including potentially the validation process for migrating from paper based PROs to electronic PROs. As each of these components at the study design stage is often an unknown, and takes time to do robustly, early stage consideration of the patient reported outcomes strategy is especially important for rare diseases research. This presentation will outline these issues, with the aim of raising awareness of the challenges and facilitating timely consideration regarding the involvement of PROs in rare diseases research.

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Samuel Ayoola Abati working as a researcher in lagos University, and has published many articles and publications and also gained experience and worked as a faculty of Infectious Diseases in Nigeria

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Shahira ElShafei working as a head of Department of Clinical and Chemical Pathology, Fayoum University from 2016 and severed as a vice-Dean of Faculty of Medicine, Fayoum University Research and Postgraduate Study, Community Service and Environmental Development, 2007-2015.she is the Director of Third Country Training Program, Fayoum University and also review many articles in British Medical Journal Clinical Evidence From 2006 and in African Journal of Microbiology Research. She also received best paper award, initial steps for internationalization of medical education in Egypt, international business and education conference, Las Vegas, 2014

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Hereditary pyropoikilocytosis (HPP) is a severe, rare, heriditery (autosomal recessive) hemolytic anemia, characterized by morphological findings of peripheral blood film in the form of spherocytosis, aniso-poikilocytosis, red cell fragments and a moderate degree of elliptocytosis) and decreased thermal threshold for heat-induced red cell hemolysis . Considerable evidence indicates abnormal assembly of red cell membrane proteins that result from one or more inherited defects of red cell membrane protein of the red cell skeleton is abnormal in such patients as a result of one or more inherited defects in the spectrin molecule.

We report and a document a case of pyropoikilocytosis with family study that suggest hereditary elliptocytosis in the father and ovalocytosis in the mother. We present the morphological findings and thermal studies of the patient and family members.

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Yadav Shyamjeet Maniram, holds masters degree in Life Sciences and currently a Research Scholar at the Centre for Studies in Science Policy, Jawaharlal Nehru University (JNU) New Delhi, India. He is a recipient of Indian Council of Medical Research (ICMR) Fellowship.  He is working on R&D and Innovation Policies for Rare Diseases in India

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Despite reports of more than seventy million population of India affected by rare diseases, it rarely figured on the agenda of the Indian scientist and policy makers. Hitherto ignored, a fresh initiative is being attempted to establish first national registry for rare disease. Though there are registries for rare disease, established by the clinicians and patient advocacy groups, they are isolated, scattered and lacks information sharing mechanism. It is first time that there is an effort from the government of India to make an initiative on the rare disease registries, which would be more formal and systemic in nature. Since there is lack of epidemiological evidence for the rare disease in India, it is interesting to note how rare disease policy is being attempted in the vacuum of evidence required for the policy process. Objective of this study is to analyse rare disease registry creation and implementation from the parameters of evolutionary policy perspective in the absence of evidence for the policy process. This study will be exploratory and qualitative in nature, primarily based on the interviews of stakeholders involved in the rare disease registry creation and implementation. Some secondary data will include various documents related to rare disease registry. Expected outcome of this study would be on the role of stakeholders in the generation of evidence for the rare disease registry creation and implementation. This study will also try to capture negotiations and deliberations on the ethical issues in terms of data collection, preservation and protection.

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Maris C. Dalagan has completed her medical degree in the University of the East Ramon Magsaysay Memorial Medical Center, Philippines. She is a third year Pediatrics Resident at the Asian Hospital and Medical Center Philippines

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Congenital central nervous system tumors are a unique group of neoplasms, not only due to the onset time, but also due to the histopathology, anatomic location and biologic behavior. Treatment involves a combination of gross total resection of the tumor, chemotherapy, and radiotherapy, but ultimately is incurable. Congenital Glioblastoma multiforme is one of the rare highly aggressive brain tumors and there have been evidence that this may have a better prognosis with improved survival compared to GBM in older children. Patients usually presents with large tumors with associated hemorrhage due to its high vascularity and hydrocephalus due to ventricular obstruction. Here we have a case of a 1 month old female who presented with an increasing size of the head. Cranial MRI and MRA showed a large right cerebral parenchymal mass. Right hemicrainectomy and debulking of 60% of the mass was done. Histopathology reports confirmed a stage 4 glioblastoma multiforme. Since then, patient has been in remission, with regular oral chemotherapy and physical therapy. Although with prominent developmental delay,  patient has  been noted to have good prognosis with multimodal therapy. There have been a reported case of a congenital GBM with spontaneous resolution and remained in remission with survival rates of up to 5 years. However, quality of life is still affected since most patients develop severe developmental delay and seizures This case suggested congenital GBM may be a separate biological entity much like neuroblastomas in infants, and therefore associated with better outcomes and even spontaneous resolution.