Day 1 :
Keynote Forum
Laxminarayan Bhat
Reviva Pharmaceuticals Inc
USA
Keynote: Serotonergic targets in the treatment of pulmonary fibrosis (PF) and pulmonary arterial hypertension
Time : 10:00-10:40
Biography:
Abstract:
Keynote Forum
Gianluca Colella
Rizzoli Orthopaedic Institute
Italy
Keynote: Surgical treatment of early onset scoliosis associated with Rare Disease
Time : 11:00-11:40
Biography:
Abstract:
Keynote Forum
Abdulaziz Aldawood
King Saud Bin Abdulaziz University
Saudi Arabia
Keynote: Clinical Course and Outcomes of Critically Ill Patients With Middle East Respiratory Syndrome Coronavirus Infection
Time : 11:40-12:20
Biography:
Abstract:
- Track 1: Neglected Tropical Diseases
Track 2: Rare Pulmonary Diseases
Track 3: Rare Diseases in Neurology
Track 4: Rare Genetic Diseases
Track 5: Scope of Orphan Drugs
Track 6: Rare diseases of Endocrine System
Track 7: Rare diseases of Immune System
Track 8: Rare Cardiac Diseases
Track 9: Rare Eye and Ear Diseases
Track 10: Orphan Drugs Treatment for Rare Diseases
Track 11: Rare Oral Diseases
Track 12: Rare Hepatic Diseases
Track 13: Rare Gastrointestinal Diseases
Track 14: Rare Bacterial, Viral and Fungal infections
Track 15: Rare diseases of Genitourinary System
Track 16: Rare diseases in Nephrology
Location: Dublin, Ireland
Session Introduction
Yolande van Bever
Erasmus Medical Centre
The Netherlands
Title: Rare diagnosis in disorders/differences of sex development
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
Gianluca Colella
Rizzoli Orthopaedic Institute
Italy
Title: Surgical treatment of scoliosis in rare diseases: Arthogryposis
Time : 12:50-13:20
Biography:
Abstract:
Laxminarayan Bhat
Reviva Pharmaceuticals, Inc
USA
Title: Pulmonary arterial hypertension and pulmonary fibrosis: Treatments, unmet needs, and future directions
Biography:
Abstract:
Tatjana Michel
University Hospital Tuebingen
Germany
Title: Synthetic messenger RNA-based therapeutic strategy for treatment of alpha-1- antitrypsin deficiency
Biography:
Abstract:
Biography:
Abstract:
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.
Andria Hanbury
York Health Economics Consortium
UK
Title: Challenges in using patient reported outcome measures in rare diseases research
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.
Abstract:
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.