Discapacidad
Patients’ representatives have an increasingly present voice in all aspects of drug development from fundamental research through regulatory processes to health technology assessment. Although major advances have been made in raising awareness and increasing funding for rare diseases, important challenges remain in terms of best use of resources, coordinating efforts and improving policy. This article […]
…Juvenile neuronal ceroid lipofuscinosis (JNCL; Batten disease) is a rare, inherited, fatal lysosomal storage childhood disorder. True for many rare diseases, there are no treatments that impact the course of JNCL. The University of Rochester Batten Center’s (URBC) mission is to find treatments to slow, halt, or prevent JNCL.Our initial objective was to develop clinical […]
…The science of measuring patient-reported outcomes (PROs) has advanced substantially in recent decades, allowing evaluation of how patients feel and function in clinical research. Assessment of the patient experience in populations with rare diseases can be successfully achieved using PRO measures when careful planning and rigorous methods are employed. A number of challenges exist when […]
…Clinical trials to evaluate patients affected by rare diseases are often hampered by the difficulty of recruiting a critical sample size. Registries for rare conditions are thus extremely powerful tools for overcoming recruitment problems. Here we present and discuss the international experience with alpha1-antitrypsin deficiency achieved by the Alpha One International Registry, and national experience […]
…The rule of rescue describes the moral impulse to save identifiable lives in immediate danger at any expense. Think of the extremes taken to rescue a small child who has fallen down a well, a woman pinned beneath the rubble of an earthquake, or a submarine crew trapped on the ocean floor. No effort is […]
…The care of patients with rare diseases is associated with many challenges, in particular those associated with high coordination complexity. In an explorative case study in a health-care network for patients with respiratory insufficiency, we have investigated the types and causes of coordination problems.We conducted semi-structured, qualitative interviews with 3 patients and their health-care providers. […]
…With rare diseases the evidence base is often poor. The reasons are, among other things: (a) strict separation of evidence users (i.e. physicians and patients) and evidence producers (i.e. scientists); (b) lack of methods and procedures for the inclusion of unused evidence sources in medical care (e.g. documentation of individual disease development, subjective patient experiences); […]
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