Day 1 :
Keynote Forum
Stef Stienstra
Royal Dutch Navy, Netherlands
Keynote: Drug delivery by tattooing to treat cutaneous leishmaniasis
Biography:
Stef Stienstra works internationally for several medical and biotech companies as Scientific Advisory Board Member and is also an active Reserve-Officer of the Royal Dutch Navy in his rank as Commander (OF4). He has extensive practical experience in cell biology, immuno-haematology, infectious diseases, biodefense and transfusion medicine. His natural business acumen and negotiation competence helps to initiate new successful businesses, often generated from unexpected combinations of technologies.
Abstract:
Introduction: Leishmaniasis is a vector-borne disease that is caused by obligate intra-macrophage protozoa of the Leishmania species. Leishmaniasis can cause different clinical syndromes, including Cutaneous Leishmaniasis (CL), in which the patient generally presents with one or several ulcer(s) or nodule(s) on the skin, resulting from the infection of phagocytic cells located in the dermis. It often results into severe scar tissue in the skin. Most of the 12 million people infected with Leishmania worldwide are CL cases, a 1.5 million new cases occur annually.
Objective: WHO has a program to develop new treatments for cutaneous leishmaniasis. This study establishes a proof-of-concept that a tattoo device can target intra-dermal drug delivery against cutaneous leishmaniasis.
Methods: The selected drug is oleylphosphocholine (OlPC) formulated as liposomes, particles known to be prone to macrophage ingestion. First is shown that treatment of cultured Leishmania-infected macrophages with OlPC-liposomes results in a direct dose-dependent killing of intracellular parasites. Based on this, in vivo efficacy is demonstrated using a 10-day tattooing-mediated treatment in mice infected with L. major and L. mexicana. In both models this regimen results in rapid clinical recovery with complete regression of skin lesions by Day 28. Parasite counts and histopathology examination confirm high treatment efficacy at the parasitic level. Low amount of drug required for tattooing combined with fast clinical recovery may have a positive impact on CL patient management.
Results & Conclusion: This first example of tattoo-mediated drug delivery could open to new therapeutic interventions in the treatment of skin diseases. This study demonstrates that the use of a tattoo instrument for drug delivery is possible in the treatment of cutaneous leishmaniasis and that this method can successfully eliminate intracellular parasites at the site of infection. After showing that the selected drug oleylphosphocholine (OlPC) formulated as liposomes could efficiently reach intracellular parasites when in contact with infected macrophages, the activity of the drug was compared in vivo in mouse models of Old (L. major) and New World (L. mexicana) leishmaniasis. Three routes of administrations of the same drug formulation were investigated: Systemic (IP) administration, topical administration as a drop and administration via the tattoo instrument. Evaluation parameters included clinical (lesion sizes) and parasitological parameters (burdens) using quantitative and qualitative methods. In all experiments, the tattooing delivery procedure was the most efficacious at both the clinical and parasitological levels.
Keynote Forum
Michelle Muscat
The National Alliance for Rare Diseases Support, Malta
Keynote: Fighting rare diseases on a small island state
Time : 09:15 - 10:00
Biography:
Michelle Muscat, Spouse of Prime Minister of Malta, is the Chairperson of The Marigold Foundation and President of The National Alliance for Rare Diseases Support – Malta.
Abstract:
The National Alliance for Rare Diseases Support - Malta is a voluntary non-profit organization which brings together all stakeholders including patients and their relatives, researchers, medical professionals and other organizations representing specific conditions. Set up in 2016, the Alliance represents a higher number of patients speaking with one voice, thus providing a stronger voice than a single disease support group. Rare Diseases Malta seeks to advocate and provide a national and international network for all rare disease patients and their families, to help them improve their quality of life. It also strives to strengthen already existing community services and rare diseases groups, by taking a central role in helping these entities take their cause to a higher level.
NATIONAL
On a National level RDM strives to promote public awareness on rare diseases by organizing Rare Disease Campaigns, an annual Rare Disease Day Gala Dinner, TV advertorials, participating in educational national events such as Science in the City and the Rare Disease Colloquium organized by the University of Malta. This year a Rare Disease Seminar targeted at the Community Healthcare Services, was organized in collaboration with the University of Malta.
The National Alliance for Rare Diseases Support – Malta aims to empower its members and make sure they are listened to by organizing regular members’ meetings and get together, where speakers coming from the field of rare diseases like; Health professionals, Researchers, EURORDIS representations and Rare Disease patients themselves, are invited to give talks and share their experiences with RDM members. The Alliance is committed to create an online platform of information and direct links to other international institutions.
INTERNATIONAL
On an International level, RDM has been approved as member of EURORDIS, the European Organization for Rare Diseases representing 738 rare disease patient organizations. Mrs Muscat has been appointed Honorary Patron of Eurordis since 2015. RDM is also member of Rare Diseases International.
During Malta’s tenure as President of the European Council, RDM worked hard to raise the issue of Rare Diseases on a European platform. Malta hosted and got together all the main players including all the European Health Ministers.
The National Alliance for Rare Diseases Support – Malta participated with five other international communities to support Rare Diseases International, to launch the first ever Non-Governmental Organization (NGO) Committee for Rare Diseases at the United Nations, as part of the Conference of NGOs (CoNGO). This Global Gathering insisted for the first time that Rare Diseases receive proper consideration as a global public health priority for action within the United Nations, as part of the 2030 Sustainable Development Agenda and Goals.
Keynote Forum
Jennifer Mcnary
Rare Diseases Advocate,USA
Keynote: Understanding the patient and caregiver journey
Time : 10:15 - 11:00
Biography:
Jenn McNary is a trusted voice in the rare disease community, as a mother, public speaker and fierce advocate. Her work in the Duchenne space as a thought leader earned her the Ryan’s Quest Ryan’s Hero award in 2013, a nomination for the Global Genes Champion of Hope award in 2014, and the prestigious 2017 Meyer- Whalley instrument of change award. Formerly as the director of outreach and advocacy at a Massachusetts based non-profit foundation, she was responsible for the organization of the largest FDA advisory committee hearing in history, with over 1000 duchenne advocates, families, clinicians and researchers in attendance. There are currently only two drugs approved for Duchenne, Exondys51 and Emflaza, though in various roles, Jenn was involved in the approval process for both. Jenn has unique experience in the drug development field, as a parent of children enrolled in the clinical trials, an advocate engaging with the regulators and as a consultant helping to develop programing for patients. Currently, Jenn is consulting in the biotechnology space with an expertise in caregiver/patient engagement, including bringing the patient voice to drug development and solving barriers to access. Her other activities include serving on the board of the Beauhawks, a local non-profit foundation dedicated to funding Duchenne research, participating in and attending conferences and workshops related to patient voice and raising her four children in Massachusetts.
Abstract:
Understanding the patient and caregiver journey is an important first step when tackling rare disease drug development. Through my personal experience raising two boys with Duchenne muscular dystrophy, I will lead the audience into the world of those living with rare disease. Our story is not unique, patients and caregivers don’t often have a background that is ideal to enable them to become experts in the areas needed to advocate for themselves and their family members, but there is no more motivated person to do so.
Objectives:
The audience should gain a deeper understanding from the viewpoint of those living with and caring for rare disease patients. Through storytelling, the audience will become engaged in and experience a renewed motivation to serve the populations they work for.
Topics discussed will include:
- Caregiver/family burden
- Diagnostic journey
- Clinical trial experience
- Advocacy
- Regulatory
- Access
- Financial considerations
- Rare Diseases, Infectious Disease, Orphan Drug, Challenges in Rare Diseases, Living with a Rare Diseases, Rare Pediatric Diseases, Rare Haematology Diseases
Location: Conference Hall
Chair
Stef Stienstra
Royal Dutch Navy, Netherlands
Co-Chair
Emmanuelle Logette
Association francaise Sclerose Tubereuse de Bourneville , Switzerland
Session Introduction
David Rose
Rare Revolution Magazine, UK
Title: The science behind what occipital horn syndrome
Time : 11:00 - 11:30
Biography:
David Rose is is working for Rare Revolution Magazine, based in the UK. He is also an Ambassador for Great Ormond Street Children’s Hospital. He is passionate about the rare disease community.
Abstract:
David’s presentation will cover two main areas: Firstly, the science behind what Occipital Horn Syndrome is, covering prevalence and inheritance. Secondly, David will cover how his poor health has affected his work life, education, relationships with friends and family and his aims for the future. David will speak openly about the condition and the uncertainties that come with it, especially in the stage of his life now. David will also speak about how being born with this ultra-rare condition and always being in and out of hospital has made him the man he is today and how he appreciates the life he has – despite always being different to most of his peers.
Yasser Zaghloul
Sheikh Khalifa Medical City, UAE
Title: Perioperative management of paediatric patients with genetic diseases
Time : 11:30 - 12:00
Biography:
Abstract:
Pediatric patients with a genetic disease present a significant challenge for the surgeons, anesthetists and nurses because of the significant comorbidities. Many are preterm babies with congenital heart disease and compromised cardiovascular system. They may have pulmonary hypoplasia, reactive airway disease, chronic aspiration, recurrent pneumonia, chronic lung disease and need for long-term mechanical ventilation. Neurologically; a significant proportion of patients have seizure disorder. Hypotonia is a common finding with delayed development and intellectual abnormalities. Some patients may have congenital hydrocephalus and they need insertion of VP-Shunt early in their life. Metabolic and electrolytes abnormalities are common especially in patients with mitochondrial diseases, renal dysfunction and hepatic impairment. Many patients have anemia, poor nutritional status, global developmental delay and low weight for their age. All may increase the perioperative morbidities and mortalities. As the patient may has limb contractures, spinal and skeletal deformities, care should be taken during positioning and pressure points should be protected. Abnormal response to the medications and anesthetic drugs is a common challenge. Careful selection of the drugs and precise calculation of the doses are paramount. Regional anesthetic techniques are usually recommended to reduce the doses of general anesthetic medications and for easier management of postoperative pain. However the presence of a neurological disorder may preclude the use of regional techniques. There is a greater chance for perioperative hypothermia, so all measures should be taken to minimize heat loss and to avoid hypothermia and its adverse effects. Postoperatively; observation in high dependency unit may be needed for prolonged complicated procedures. Careful pain management is important as the child may suffer in silence. Control of postoperative nausea and vomiting will prevent aspiration and ensure a comfortable child.
Samer Ellahham
Regional Chair of Patient Safety Movement Middle East, UAE
Title: Lymphedema: Update on diagnosis and management
Time : 12:00 - 12:30
Biography:
Samer Ellahham has served as Chief Quality Officer for SKMC since 2009. In his role, he has led the development of a quality and safety program that has been highly successful and visible and has been recognized internationally by a number of awards. As Chief Quality Officer and Global Healthcare Leader, he had a focus on ensuring that that implementation of these best practices leads to breakthrough improvements in clinical quality, patient safety, patient experience and risk management. He is a board-certified Internist, Cardiologist and Vascular Medicine Senior Consultant and continues to care for patients. He has received his undergraduate degree in Biology and his MD from the American University of Beirut, Beirut, Lebanon.
Abstract:
Lymphedema is a complex chronic debilitating condition resulting from inadequate lymph flow leading to significant physical and psychological morbidity. It is a chronic condition that occurs due to insufficient lymph flow leading to limbs or genitals swelling. Noninvasive diagnostic tools are helpful in confirming the diagnosis. Treatment with decongestive lymphatic therapy provides improvement in patient symptoms and volume reduction. Lymphedema is a chronic condition that occurs due to insufficient lymph flow leading to limbs or genitals swelling. The bedside diagnosis of lymphedema requires high level of suspicion and identification of specific findings on physical examination. It is important to properly diagnose LE to understand the extent and severity of extra fluid to tailor treatment accordingly. There are several diagnostic tools available and each has a specific method of implementation. LE is classified in general into primary or secondary. The treatment of lymphedema varies from complete decongestive therapy, surgery pneumatic compression to complementary and alternative medicine. Recent studies of lymphedema diagnosis and therapy are promising.
Ali A. Ghweil
South Valley University, Egypt
Title: Liver stiffness predicts relapse after direct acting antiviral therapy against chronic hepatitis C virus infection
Time : 13:30 - 14:00
Biography:
Abstract:
Background: Assessment of fibrosis in chronic hepatitis has always been considered of utmost relevance for patient care in clinical hepatology. Over the last decade, several non-invasive methods were proposed for diagnosis of liver fibrosis, including the elastometric measurement of hepatic stiffness, group of clinical and biochemical parameters and combinations of both methods. It has been suggested that elastography and serum markers are useful techniques for diagnosing severe fibrosis and cirrhosis and for excluding significant fibrosis in hepatitis C virus patients. In addition, hepatic stiffness may also help to prognosticate treatment response to antiviral therapy.
Aim: To evaluate changes of transient elastography values as well as serum fibronectin and AST to Platelet Ratio Index in patients (APRI) treated with Sofosbuvir-based treatment regimen.
Methods: This is a follow-up study including 100 chronic HCV Egyptian patients treated with Sofosbuvir-based treatment regimen. Transient elastography values were recorded as well as serum fibronectin and APRI were calculated at baseline and SVR12.
Results: There was a significant improvement of platelets counts, ALT and AST levels, which in turn cause significant improvement in APRI scores at SVR12. Liver stiffness measurements were significantly lower at SVR12 (15.40±8.96 vs. 8.82±4.74 kPa, P=0.000). There was significant decline in serum fibronectin from baseline to SVR 12 (524.14±237.61 vs. 287.48±137.67, P=0.000).
Biography:
Abstract:
Sickle Cell Disease (SCD) is the most common monogenic disorder. SCD is an increasing global health problem and even accepted as public health issue in some regions. The prevalence of the disease is high in sub-Saharan Africa, the Mediterranean basin, the Middle East and India. Recurrent and unpredictable episodes of vaso-occlusion are the hallmark of sickle cell disease. Vaso-occlusion typically causes acute complications, including ischemic damage to tissues, resulting in severe pain or organ failure. Symptomatic management and prevention of these events is currently the mainstay of treatment. Discoveries over the past two decades have highlighted the important contributions of various participants in the occlusion cascade and there are new progresses in vaso-occlusion management. Cardiac amyloidosis is increasingly recognized due to enhanced clinical awareness and better diagnostic imaging like echocardiography, cardiac MRI and scintigraphy. Transthyretin cardiomyopathy is a form of transthyretin amyloidosis, a rare progressive disease characterized by the abnormal deposits of a protein called amyloid in the body’s organs and tissues. Transthyretin cardiomyopathy primarily affects the heart and is defined by restrictive cardiomyopathy and progressive heart failure. The prevalence of transthyretin cardiomyopathy is presently unknown, but it is estimated that less than 1% of people with the disease are diagnosed. The average life expectancy for people with transthyretin cardiomyopathy is 3 to 5 years from diagnosis. CA is becoming of heightened interest to the cardiology community given more effective treatment strategies. The commonest severe inherited bleeding disorder worldwide is hemophilia A, followed by hemophilia B. These are X-linked recessive disorders that result from mutations in the genes for blood clotting factor VIII (FVIII) in hemophilia A or factor IX (FIX) in hemophilia B. There is severe bleeding tendency with frequent spontaneous musculoskeletal and soft tissue bleedings. The life expectancy of a patient with severe hemophilia is about 10 years in the absence of replacement therapy. Since 1960s several progresses have been achieved in replacement therapies. Even there are widening therapeutic choices currently, gene therapy offers a strikingly attractive potential by means of the endogenous production of FVIII or FIX. The hemophilia patients were recognized as good candidates for gene therapy because all their clinical manifestations are due to lack of a single protein. Gene therapy provides hope for patients with hemophilia.
Ginger Spitzer
Foundation for Sarcoidosis Research, USA
Title: Workshop 01 : Rare disease PRO registries – Empowering patients to advance research
Time : 14:45 - 16:15
Biography:
Abstract:
Workshop will review how to create a patient registry, outlining major elements. Then participants will work together and with presenter to identify specific needs (based on resources, objectives) and review options and recommendations. In the age of “big data” needs, it is becoming apparent that patient groups, foundations, non-profits, etc. can provide significant content to the research field by having access to patients that pharma and academia may not. This is especially true within the rare disease field where patient access and data availability are common barriers to advancing research. Of the roughly 7000 rare diseases identified by NIH, best estimates are that fewer than 20% of rare diseases have patient registries. Most of these are operated by patients' organizations or academic researchers, states The Office of Rare Diseases Research (ORDR), a component NCATS, NIH. For many groups building a registry is a major undertaking. While smaller patient groups, foundations, non-profits often provide patient education and support, many want to add resources to accelerate research in their specific disease. One form of research to provide is a patient registry that gathers and shares data. Many of these groups need information and guidance on how their particular group could launch a registry.
The proposed workshop will outline:
1)Types of registries
2)Identify which type is best
3)IRB process
4)HIPPA and privacy Issues
5)Resources and partners/venders needed
6)Designing the registry (functionality and appearance)
7)Development process
8)Involving the scientific community
9)Technology to host a registry
10)User-ability
11)Sponsorships/Funding
12)Educating the Patients, Physicians, and other stakeholders
13)Launching the Registry
14)Patient Engagement and Marketing
15)Tracking and communicating with participants
16)Building data-sharing agreements
17)Disseminating to scientific community
Ali A. Ghweil
South Valley University, Egypt
Title: Workshop 02: Management of hepatitis B in special situations
Time : 16:30 - 18:00