Results 1 to 10 of about 700,860 (189)

Is CABP2‐Associated Hearing Loss (DFNB93) a Gene Therapy Target? Preclinical Progress and Patient Registry [PDF]

MedComm
CABP2 modulates presynaptic CaV1.3 Ca2+ channel function in inner hair cells (IHCs) and is required for indefatigable synaptic sound encoding. Biallelic variants in CABP2 are associated with non‐syndromic hearing loss (DFNB93). Otoacoustic emissions have
Barbara Vona, Bernd Wollnik, Nicola Strenzke, Tina Pangršič, Tobias Moser   +4 more
doaj   +2 more sources

Understanding the Experiences of Patients With Pancreatic Cancer: Quantitative Analysis of the Pancreatic Cancer Action Network Patient Registry [PDF]

Journal of Participatory Medicine
BackgroundThe Pancreatic Cancer Action Network (PanCAN) established its Patient Registry to gather real-world data from patients with pancreatic cancer and their caregivers, related to their diagnosis, symptoms and symptom management, treatments, and ...
Allison Rosenzweig, Sydney Rathjens, Kawther Abdilleh, Dennis Ladnier, Fatima Zelada-Arenas, Sudheer Doss, Lynn M Matrisian   +6 more
doaj   +2 more sources

Data accuracy in the European Cystic Fibrosis Society Patient Registry: results of an on-site data validation project [PDF]

Orphanet Journal of Rare Diseases
Background Patient registries are valuable tools for epidemiological research, especially for rare diseases, and a high level of data quality is essential but not always demonstrated. Although crucial, the quality management process in patient registries
Naehrlich Lutz, Fox Alice, Krasnyk Marko, Wollscheid Nadine, Silvia Lorca Mayor, Zolin Anna, Prasad Vibha, ECFS Patient Registry Steering Group   +7 more
doaj   +2 more sources

Clinical patient registry recruitment and retention: a survey of patients in two chronic disease registries [PDF]

BMC Medical Research Methodology, 2017
Background The collection of routine clinical data in the setting of research registries can serve an important role in understanding real world care. However, relatively little is known about the patient experience in registries, motivating us to survey
Daniel H. Solomon, Nancy A. Shadick, Michael E. Weinblatt, Michelle Frits, Christine Iannaccone, Agnes Zak, Joshua R. Korzenik   +6 more
doaj   +3 more sources

RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy [PDF]

Orphanet Journal of Rare Diseases
Background Spinal Muscular Atrophy (SMA) is a rare neuromuscular disorder characterized by progressive degeneration of motor neurons and muscle weakness resulting in premature death or severe motor disability.
Maria Grazia Cattinari, Mencía de Lemus, Eduardo Tizzano   +2 more
doaj   +2 more sources

Running Behind “POPO”—Impact of Predictors of Poor Outcome for Treatment Stratification in Pediatric Crohn's Disease

Frontiers in Medicine, 2021
Background and Aims: Intensifying therapy for Paediatric Crohn's Disease (CD) by early use of immunomodulators and biologics has been proposed for cases in which predictors of poor outcome (POPO) were present.
Jan de Laffolie, Klaus-Peter Zimmer, Keywan Sohrabi, Almuthe Christina Hauer   +3 more
doaj   +1 more source

Starting a Swedish national quality registry for orthognathic surgery: a tool for auditing fundamentals of care

BMC Oral Health, 2022
Background National quality registries (NQRs) provide open data for user-directed acquisition. National Quality Registry (NQR) data are often used to analyze the rates of treatment success and adverse events for studies that aim to improve treatment ...
Mats Sjöström, Bodil Lund, Bo Sunzel, Martin Bengtsson, Mikael Magnusson, Lars Rasmusson   +5 more
doaj   +1 more source

Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON)—An International Network on Care and Research for Patients With Neurodegeneration With Brain Iron Accumulation (NBIA)

Frontiers in Neurology, 2021
In order to improve clinical care, coordinate research activities and raise awareness for the ultra-orphan Neurodegeneration with Brain Iron Accumulation (NBIA) disorders, a group of NBIA clinicians and researchers, industry partners and patient ...
Ivan Karin, Boriana Büchner, Florence Gauzy, Angelika Klucken, Thomas Klopstock, Thomas Klopstock, Thomas Klopstock   +6 more
doaj   +1 more source

TuberOus SClerosis Registry to Increase Disease Awareness: A Review on Alignment of Its Planning, Execution, and Publications With European Medicines Agency Guidelines

Frontiers in Neurology, 2020
Patient registries offer a powerful and practical means of real-world data collection system for rare diseases. Many guidelines have been released to standardize patient registries, although most of them do not address issues specific to rare disease ...
Ruben Marques, Henriette Thole, José G. Ruiz de Morales   +2 more
doaj   +1 more source

Contribution of patient registries to regulatory decision making on rare diseases medicinal products in Europe

Frontiers in Pharmacology, 2022
Between 2000 and 2021, the European Medicines Agency (EMA) assigned the orphan designation to over 1,900 medicines. Due to their small target populations, leading to challenges regarding clinical trial recruitment, study design and little knowledge on ...
Carla J. Jonker, Carla J. Jonker, Elisabeth Bakker, Elisabeth Bakker, Xavier Kurz, Kelly Plueschke   +5 more
doaj   +1 more source