2020 Patient Advocate Showcase
Batten Disease Support and Research Association
BDSRA is dedicated to funding research for treatments and cures, providing family support services, advancing education, raising awareness, and advocating for legislative action. BDSRA is now the largest support and research organization dedicated to Batten disease in North America.
Cure Sanfilippo Foundation
Cure Sanfilippo Foundation is a 501c3 nonprofit whose mission is to advocate for and fund research directed towards a cure or treatment options for children with Sanfilippo Syndrome, a rapidly degenerative and terminal disease, currently with no cure or treatment.
European Working Group on Gaucher Disease
The aim of the EWGGD is to promote clinical and basic research into Gaucher disease for the ultimate purpose of improving the lives of patients with this disease; it brings together clinicians, scientists and patients in an open forum for discussion on all aspects of the condition.
EveryLife Foundation for Rare Diseases
The EveryLife Foundation for Rare Diseases is dedicated to accelerating biotech innovation for rare disease treatments through science-driven public policy. We can do more with the science we already have and bring life-saving treatments to millions of people suffering from rare diseases.
Fabry International Network
The primary aim of The Fabry International Network (FIN) is to facilitate collaboration between Patient Organisations to support those affected by Fabry Disease. It seeks to do this primarily through enabling communication, promoting good practices and acting as an independent forum for Fabry Associations. FIN is connected to over 45 countries around the world. Membership is free and open to any National Patient Organisation in which Fabry patients are represented. In difficult to reach geographical areas, FIN relies on individual supporters, such as Mr Martynas Davidonis from Lithuania to help FIN reach Eastern European Patient Organisations or Mr Wanderlei Cento Fanta, the founder and president of Abraff in Brazil, helping FIN with South America’ s Associations. FINs Vision is of a world where every single person affected by Fabry disease has the best quality of life possible through early diagnosis, treatment and cure.
Global Genes® is a leading rare disease patient advocacy organization. Our mission is to create a globally connected community equipped to eliminate the challenges of rare disease. We achieve this through connecting, empowering and inspiring the rare disease community.
We C.A.R.E.™ – Compassion, Awareness, Research & Education for metachromatic leukodystrophy (MLD). Global footprint. Support for families, especially newly diagnosed. Very active in Rare Disease policy & awareness, and newborn screening at federal, state & global levels. Actively working on an identified MLD newborn screen pilot.
MSD Action Foundation
Our goal is to promote and support research that will lead to positive clinical outcomes and quality of life for patients suffering from Multiple Sulfatase Deficiency.
National Fabry Disease Foundation
The National Fabry Disease Foundation is a nonprofit charitable organization with many valuable programs to provide disease education and to provide support and assistance to families with Fabry disease. They strive to improve disease understanding, diagnoses, and management and to enable individuals with Fabry to live better and longer lives.
National MPS Society
The National MPS Society exists to find cures for MPS and ML. We provide hope and support for affected individuals and their families through research, advocacy and awareness of these devastating diseases.
Salla Treatment and Research Foundation
Promoting research, education, and family support as we pursue treatments for Salla Disease.
United MSD Foundation
The United MSD Foundation advocates for, supports, and funds biomedical research to cure Multiple Sulfatase Deficiency (MSD) and avails its research to cure other lysosomal storage diseases.
Amicus Therapeutics, Inc.
Amicus Therapeutics is a global, patient-dedicated biotechnology company focused on discovering, developing and delivering novel high-quality medicines for people living with rare metabolic diseases. With extraordinary patient focus, Amicus Therapeutics is committed to advancing and expanding a robust pipeline of cutting-edge, first- or best-in-class medicines for rare metabolic diseases.
ARCHIMEDlife is an innovative and dynamic Medical Laboratory providing high quality, specialized diagnostic services for Rare Diseases, located in Vienna, Austria. The company is committed to helping physicians and their patients avoid diagnostic odysseys by delivering leading-edge, rapid services. More than 20,000 physicians in 75 countries have trusted in ARCHIMEDlife.
Audentes Therapeutics is a leading AAV-based genetic medicines company focused on developing and commercializing innovative products for serious rare neuromuscular diseases. We are leveraging our AAV gene therapy technology platform and proprietary manufacturing expertise to develop programs across three modalities: gene replacement, vectorized exon skipping, and vectorized RNA knockdown. Our product candidates are showing promising therapeutic profiles in clinical and preclinical studies across a range of neuromuscular diseases. Audentes is a focused, experienced and passionate team driven by the goal of improving the lives of patients.
We believe “everyone deserves a healthy start”. Baebies develops products that enable early disease detection for children including: SEEKER®, an FDA-cleared and CE-marked newborn screening platform for lysosomal storage disorders (Pompe, MPS I, Gaucher, Fabry), and FINDER, a CE-marked low volume pediatric testing platform, not commercially available in the U.S.
BioMarin develops and commercializes innovative biopharmaceuticals for serious diseases and medical conditions. Approved products include the first and only therapies for PKU, LEMS, MPS I, MPS VI, MPS IVA, and CLN2 disease. Clinical development programs include investigational therapies for Hemophilia A, Achondroplasia, MPS IIIB, Friedreich’s Ataxia and other rare diseases.
Blueprint Genetics is a genetic testing company, providing single genes, panels and whole exome sequencing by next generation sequencing. This year, Blueprint Genetics is expanding these services by offering biochemical testing to better collaborate with clinicians, researchers and personalized health care companies to provide patients with a faster, earlier diagnoses.
CENTOGENE US LLC
CENTOGENE is a rare disease company focused on transforming clinical, genetic, and biochemical data into medical solutions for patients. We are focused on bringing rationality to treatment decisions and accelerating the development of new orphan drugs by using our knowledge of the global rare disease market, including its epidemiological and clinical heterogeneity, and our innovative biomarkers. Our data repository includes epidemiologic, phenotypic, and genetic information from over 450,000 patients sourced from over 115 countries thus reflecting the genetic differences in global ethnicities. We believe this represents the only platform that comprehensively analyzes multilevel data to improve the understanding of rare diseases, which can aid in the identification of patients and improve our pharmaceutical partners’ ability to bring orphan drugs to the market. As one of the largest rare disease companies worldwide, CENTOGENE is dedicated to transforming the science of genetic information into solutions and hope for patients with rare diseases and their families.
Discovery from Charles River is the CRO of choice with a proven track record of successful drug development in neurodegenerative rare diseases. Offering scientific excellence and integrated services that take clients from hit ID to IND, our client-focused collaborative team works with clients to find and follow the optimum path to market.
Chiesi Farmaceutici S.p.A.
Based in Parma, Italy, Chiesi Farmaceutici is an international research-oriented group with over 85 years’ experience in the pharmaceutical sector, and is present in 28 countries. The group researches, develops and commercialises innovative medicines in the respiratory disease, special care and rare disease therapeutic areas. The Group’s Research & Development centre is based in Parma (Italy) and integrated with 6 other important research and development groups in France, the USA, the UK, Sweden and Denmark, to promote its pre-clinical, clinical and registration programmes. The Group employs around 5,700 people.
Lysosomal Storage Disease with neurocognitive dysfunction represents a major medical challenge. Denali Therapeutics is dedicated to defeating neurodegenerative diseases through rigorous therapeutic discovery and development. Our scientific strategy is guided by three overarching principles: 1) Genetic pathway potential: selection of targets with a genetic link to disease; 2) Engineering brain delivery: specifically designing therapeutics to cross the blood-brain barrier; and 3) Biomarker-driven clinical development: clinical development is enabled by biomarkers to monitor early effects of the drug and select the right patients and the right dose. We believe that the application of these principles will significantly increase our probability of success and will accelerate the timing to bring effective therapeutics to patients.
Enzyvant is a biopharmaceutical company focused on developing innovative treatments for patients with rare diseases. Enzyvant has initiated a rolling BLA submission with the FDA for RVT-802, an investigational tissue-based therapy for the treatment of primary immunodeficiency associated with complete DiGeorge Anomaly. Enzyvant is simultaneously initiating a clinical trial of RVT-801, an investigational enzyme replacement therapy for the treatment of Farber disease. Enzyvant plans to develop treatments for additional rare diseases with high unmet need.
European GD Network
Our international team of GD experts are researching the quality of care provided to GD patients by hematologists around the globe. This research will improve clinical management by developing and implementing a set of minimum consistent core outcomes to improve both future GD clinical guidelines and future GD clinical trials.
Greenwood Genetic Center
The Greenwood Genetic Center is a nonprofit institute organized to provide clinical genetic services, diagnostic laboratory testing, educational programs and resources and research in the field of medical genetics. Our laboratory offers biochemical, cytogenetic, and molecular testing.
Homology Medicines, Inc.
Homology Medicines is based on an important scientific discovery – a novel set of adeno-associated virus vectors derived from human hematopoietic stem cells (AAVHSCs) that are designed to precisely and efficiently deliver genetic medicines in vivo either through gene therapy or by harnessing the body’s natural DNA repair process of homologous recombination through nuclease-free gene editing.
Our technology platform offers substantial benefits over current gene editing and gene therapy approaches and could potentially enable the development of one-time curative treatments.
The purpose of Idorsia is to discover, develop and bring more, innovative medicines to patients.
Invitae’s mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Our goal is to aggregate most of the world’s genetic tests into a single service with higher quality, faster turnaround time and lower prices.
JCR Pharmaceuticals Co., Ltd.
JCR Pharmaceuticals has been engaged in the R&D of pharmaceuticals for rare diseases ever since its inception. Its philosophy; “Contributing towards people’s healthcare through pharmaceutical products” drives us to leverage our biotechnology expertise, cell therapy and gene therapy technologies and regenerative medicine to develop treatment options for under-served patient communities.
Lysosomal & Rare Disorders Research & Treatment Center (LDRTC)
LDTRC is a non-profit organization focused on the individual patients with Lysosomal and other rare disorders. LDRTC offers clinical care by the highest standards with a special expertise in translational medicine, and conducts investigator initiated studies, bench-to-bedside studies, self sponsored multi-center collaborative trials, pilot and proof-of-concept studies.
Neurogene is accelerating development of new genetic medicines to people with devastating neurological diseases and their families.
Orchard Therapeutics transforms the lives of patients with rare diseases through innovative gene therapies.
Orphazyme is biopharmaceutical company focused on the development of treatments for serious, progressive neurological or neuromuscular diseases. Arimoclomol, a heat shock protein amplifier that restores protein homeostasis, is in development for Neiman-Pick disease type C (NPC), Gaucher disease, Amyotrophic Lateral Sclerosis (ALS), and sporadic Inclusion Body Myositis (sIBM).
Patient Discovery is changing the way patients with complex conditions are understood, supported and treated. Patient Pathfinder Platform brings together the needs of patients, providers, foundations and industry to solve common problems for complex conditions. Patient Pathfinder allows patients to search for treatment centers, clinical trials and prepare for appointments.
At Pfizer, we apply science and our global resources to bring therapies to people that extend and significantly improve their lives. Every day, Pfizer colleagues work across developed and emerging markets to advance wellness, prevention, treatments and cures that challenge the most feared diseases of our time.
PROMETRIKA is a full-service clinical research organization (CRO) with extensive experience in clinical operations, data management, biostatistics, medical writing, and pharmacovigilance. We’re driven by our passion for the human aspect of our work and our compassion for the people whose lives have been improved by the innovations we help bring to market. Our clients include national and international biopharmaceutical and medical device companies of all sizes.
Protalix is dedicated to discovering, developing, and marketing recombinant therapeutic proteins with potentially improved clinical profiles, produced with our ProCellEx® plant cell-based protein expression platform. Our first approved product was taliglicerase alfa for Gaucher disease. Our pipeline includes pegunigalsidase alfa, a novel enzyme replacement therapy in phase III studies for the treatment of Fabry disease and other investigational products in clinical development for inflammatory bowel disease and cystic fibrosis.
QPS Austria GmbH
QPS Austria is a leading CRO for CNS drug discovery and development. The preclinical department routinely performs studies using in vitro and in vivo models for lysosomal storage and neurodegenerative diseases. Models are evaluated by behavioral, histological and biochemical readouts. The clinical department performs clinical studies of different phases.
Rare Disease Research
Rare Disease Research is an independent company that strives to provide access to investigational treatments for pediatric and adult patients with rare conditions that otherwise would not have the opportunity to participate in cutting-edge clinical research efforts. We partner with physicians, industry, and academic institutions. We believe everyone deserves access.
Retrophin is a biopharmaceutical company dedicated to identifying, developing and delivering life-changing therapies to people living with rare disease.
Sanofi Genzyme, the specialty care global business unit of Sanofi, focuses on rare diseases, rare blood disorders, multiple sclerosis, oncology, and immunology. We help people with debilitating and complex conditions that are often difficult to diagnose and treat. Our approach is shaped by our experience developing highly specialized treatments and forging close relationships with physician and patient communities. We are dedicated to discovering and advancing new therapies, providing hope to patients and their families around the world.
Sigilon Therapeutics is developing functional cures for chronic diseases through its Shielded Living Therapeutics™ platform. The platform includes human cells engineered to produce the crucial proteins needed by patients living with diseases such as LSDs. The cells are protected by Sigilon’s Afibromer™ biomaterials matrix, which shields them from immune rejection.
At Spark Therapeutics, we are committed to developing potential gene therapies for serious genetic diseases and bringing those investigational therapies to patients. One of our areas of research is Pompe disease, a lysosomal storage disorder and neuromuscular disease resulting from a mutation in the acid alpha-glucosidase (GAA) gene. Our founders and members of our scientific team have devoted decades to the research of gene therapies with the goal of making these investigational, potential one-time treatments a reality.
Shire is now part of Takeda. Takeda is a global, values-based, R&D-driven biopharmaceutical leader headquartered in Japan, committed to bringing Better Health and a Brighter Future to patients by translating science into highly-innovative medicines. We focus R&D efforts on four therapeutic areas: Oncology, Gastroenterology, Neuroscience and Rare Diseases. We also make targeted R&D investments in Plasma-Derived Therapies and Vaccines.
Ultragenyx is a biopharmaceutical company committed to bringing to market novel products for the treatment of rare and ultra-rare diseases, with a focus on serious, debilitating genetic diseases. The Company has rapidly built and advanced a diverse portfolio of product candidates with the potential to address diseases for which the unmet medical need is high, the biology for treatment is clear, and for which there are no approved therapies.