Publications by authors named "N Van Os"
Ataxia-Telangiectasia (A-T) is a very rare multisystem disease of DNA repair, associated with progressive disabling neurological symptoms, respiratory failure, immunodeficiency and cancer predisposition, leading to premature death. There are no curative treatments available for A-T but clinical trials have begun. A major limiting factor in effectively evaluating therapies for A-T is the lack of suitable outcome measures and biomarkers.
View Article and Find Full Text PDFArticle Synopsis
- - The study investigates patient preferences regarding new genetic therapies for polyglutamine expansion diseases like Huntington's disease and spinocerebellar ataxia, focusing on factors such as treatment administration and expected benefits.
- - Researchers collected data from 216 patients through an online questionnaire that presented them with various treatment options, assessing their preferences based on multiple attributes using a discrete choice experiment.
- - Findings reveal that patients favor less invasive treatment methods, such as a single operation over repeated lumbar punctures, and they are more inclined towards interventions with higher chances of benefit, while risk and follow-up aspects seem less influential in their decision-making.
Background: For various genetic disorders characterized by expanded cytosine-adenine-guanine (CAG) repeats, such as spinocerebellar ataxia (SCA) subtypes and Huntington's disease (HD), genetic interventions are currently being tested in different clinical trial phases. The patient's perspective on such interventions should be included in the further development and implementation of these new treatments.
Objective: To obtain insight into the thoughts and perspectives of individuals with SCA and HD on genetic interventions.
Background: Ataxia telangiectasia (AT) is characterized by cerebellar ataxia, telangiectasia, immunodeficiency, and increased cancer susceptibility and is caused by mutations in the ataxia telangiectasia mutated (ATM) gene. The immunodeficiency comprises predominantly immunoglobulin deficiency, mainly IgA and IgG, with a variable severity. So far, the exact mechanisms underlying the immunoglobulin deficiency, especially the variable severity, remain unelucidated.
View Article and Find Full Text PDF