Results 211 to 220 of about 11,812,623 (407)
Use of Real-World Data and Real-World Evidence in Rare Disease Drug Development: A Statistical Perspective [PDF]
arXivReal-world data (RWD) and real-world evidence (RWE) have been increasingly used in medical product development and regulatory decision-making, especially for rare diseases. After outlining the challenges and possible strategies to address the challenges in rare disease drug development (see the accompanying paper), the Real-World Evidence (RWE ...
arxiv
Myostatin Levels in SMA Following Disease‐Modifying Treatments: A Multi‐Center Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective This study investigated myostatin levels in SMA patients receiving disease‐modifying therapies (DMTs) to understand their relationship with treatment duration and functional status. Methods Our study includes both cross‐sectional and longitudinal analyses of myostatin levels in treated SMA patients.
Fiorella Piemonte +23 more
wiley +1 more source
Challenges and Possible Strategies to Address Them in Rare Disease Drug Development: A Statistical Perspective [PDF]
arXivDeveloping drugs for rare diseases presents unique challenges from a statistical perspective. These challenges may include slowly progressive diseases with unmet medical needs, poorly understood natural history, small population size, diversified phenotypes and geneotypes within a disorder, and lack of appropriate surrogate endpoints to measure ...
arxiv
Rare diseases bullet 5: Primary pulmonary hypertension [PDF]
, 1999 A. Peacock
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Amygdala enlargement has been the subject of controversial studies regarding its significance in terms of pathogenicity both in epilepsy and in psychiatric comorbidities such as anxiety, depression, and post‐traumatic stress disorder.
Hélène Mourre +15 more
wiley +1 more source
Concurrent papillary thyroid cancer and parathyroid adenoma as a rare condition: A case report [PDF]
, 2012 Although the pathological relationship between parathyroid and thyroid diseases is common, an association between parathyroid adenoma and thyroid cancer is rare.
Assadi, M. +8 more
core +1 more source
Hemoglobin CE Disease: A Rare Hemoglobinopathy Detected By Capillary Isoelectric Focusing Techniques (CIE) [PDF]
, 1999 R. P. Warrier +3 more
openalex +1 more source
Drug Repurposing for Rare Diseases.
TIPS - Trends in Pharmacological Sciences, 2021 H. I. Roessler +3 more
semanticscholar +1 more source
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas +24 more
wiley +1 more source