Matches in SemOpenAlex for { <https://semopenalex.org/work/W2912494559> ?p ?o ?g. }
Showing items 1 to 73 of
73
with 100 items per page.
- W2912494559 abstract "Mucopolysaccharidosis type IIIA (MPS IIIA) (OMIM 252900) is a rare, neurodegenerative, pediatric and lethal disease. Understanding the impact of the disease and the needs of patients and families related to treatment benefits, risks and disease burden is an important addition to assess treatment effect in clinical trials. Lysogene launched an observational study for MPS IIIA in five countries (NCT02746341), to function as a non-concurrent control for their phase 2-3 pivotal gene therapy trial (NCT03612869). The observational study includes mixed methods research using face-to-face interviews, questionnaires, and digital health technology. Twenty-three children were included in the study and twenty-two parents were interviewed at baseline. Data from nineteen patients and sixteen parent interviews are available at 12 months. Patient age ranged from 2 to 10 years mean age at baseline was 61 months (range 28 – 105). Four children had been recently diagnosed and aged 2, 4, 4, and 6 years. The age range was important in providing an accurate development story covering the journey from diagnosis to the age of ten, highlighting issues that each group may face. At baseline, 43% of patients reported sleep disorder. Eight children were taking melatonin. Actigraphy showed overall stability over the course, with high inter- and intra-patient variability. The Child Behavior Checklist scores showed 30%, 50% and 60% of children had behavior scores for internalizing, externalizing and total problems above the 90e percentile, respectively. Externalizing scores increased over the study period. Data shows well-preserved Health Utility Index (HUI) scores in patients with high cognitive DQ and lower scores in patients with more advanced cognitive impairment. The parent interviews confirmed two of the main challenges of this disease: disturbed sleep and behavior. The presentation will include triangulating the qualitative data with data from the QOL, sleep, cognitive and behavior questionnaires." @default.
- W2912494559 created "2019-02-21" @default.
- W2912494559 creator A5026131620 @default.
- W2912494559 creator A5049969203 @default.
- W2912494559 creator A5057863019 @default.
- W2912494559 creator A5059361854 @default.
- W2912494559 creator A5060338051 @default.
- W2912494559 creator A5085795324 @default.
- W2912494559 creator A5087125238 @default.
- W2912494559 creator A5089564343 @default.
- W2912494559 date "2019-02-01" @default.
- W2912494559 modified "2023-10-18" @default.
- W2912494559 title "Capturing the MPS IIIA patient and family voice in orphan drug development to appreciate what is important in managing the disease and improving quality of life" @default.
- W2912494559 doi "https://doi.org/10.1016/j.ymgme.2018.12.292" @default.
- W2912494559 hasPublicationYear "2019" @default.
- W2912494559 type Work @default.
- W2912494559 sameAs 2912494559 @default.
- W2912494559 citedByCount "1" @default.
- W2912494559 countsByYear W29124945592020 @default.
- W2912494559 crossrefType "journal-article" @default.
- W2912494559 hasAuthorship W2912494559A5026131620 @default.
- W2912494559 hasAuthorship W2912494559A5049969203 @default.
- W2912494559 hasAuthorship W2912494559A5057863019 @default.
- W2912494559 hasAuthorship W2912494559A5059361854 @default.
- W2912494559 hasAuthorship W2912494559A5060338051 @default.
- W2912494559 hasAuthorship W2912494559A5085795324 @default.
- W2912494559 hasAuthorship W2912494559A5087125238 @default.
- W2912494559 hasAuthorship W2912494559A5089564343 @default.
- W2912494559 hasConcept C118552586 @default.
- W2912494559 hasConcept C126322002 @default.
- W2912494559 hasConcept C15744967 @default.
- W2912494559 hasConcept C159110408 @default.
- W2912494559 hasConcept C180747234 @default.
- W2912494559 hasConcept C1862650 @default.
- W2912494559 hasConcept C187212893 @default.
- W2912494559 hasConcept C23131810 @default.
- W2912494559 hasConcept C2778996325 @default.
- W2912494559 hasConcept C2779134260 @default.
- W2912494559 hasConcept C2779356329 @default.
- W2912494559 hasConcept C2779951463 @default.
- W2912494559 hasConcept C2781210498 @default.
- W2912494559 hasConcept C71924100 @default.
- W2912494559 hasConceptScore W2912494559C118552586 @default.
- W2912494559 hasConceptScore W2912494559C126322002 @default.
- W2912494559 hasConceptScore W2912494559C15744967 @default.
- W2912494559 hasConceptScore W2912494559C159110408 @default.
- W2912494559 hasConceptScore W2912494559C180747234 @default.
- W2912494559 hasConceptScore W2912494559C1862650 @default.
- W2912494559 hasConceptScore W2912494559C187212893 @default.
- W2912494559 hasConceptScore W2912494559C23131810 @default.
- W2912494559 hasConceptScore W2912494559C2778996325 @default.
- W2912494559 hasConceptScore W2912494559C2779134260 @default.
- W2912494559 hasConceptScore W2912494559C2779356329 @default.
- W2912494559 hasConceptScore W2912494559C2779951463 @default.
- W2912494559 hasConceptScore W2912494559C2781210498 @default.
- W2912494559 hasConceptScore W2912494559C71924100 @default.
- W2912494559 hasLocation W29124945591 @default.
- W2912494559 hasOpenAccess W2912494559 @default.
- W2912494559 hasPrimaryLocation W29124945591 @default.
- W2912494559 hasRelatedWork W1553942842 @default.
- W2912494559 hasRelatedWork W1994382145 @default.
- W2912494559 hasRelatedWork W2075270406 @default.
- W2912494559 hasRelatedWork W2167526655 @default.
- W2912494559 hasRelatedWork W2182807292 @default.
- W2912494559 hasRelatedWork W2327254568 @default.
- W2912494559 hasRelatedWork W2886711754 @default.
- W2912494559 hasRelatedWork W3139106895 @default.
- W2912494559 hasRelatedWork W4240182278 @default.
- W2912494559 hasRelatedWork W826532090 @default.
- W2912494559 isParatext "false" @default.
- W2912494559 isRetracted "false" @default.
- W2912494559 magId "2912494559" @default.
- W2912494559 workType "article" @default.