Description Module
The Description Module contains narrative descriptions of the clinical trial, including a brief summary and detailed description. These descriptions provide important information about the study's purpose, methodology, and key details in language accessible to both researchers and the general public.
Description Module path is as follows:
Study -> Protocol Section -> Description Module
Description Module
Ignite Creation Date:
2025-12-24 @ 10:45 PM
Ignite Modification Date:
2025-12-24 @ 10:45 PM
NCT ID:
NCT01851135
Brief Summary:
The main objective of the study is to investigate the determinants of the quality of life in children and adults with Neurofibromatosis type 1 (NF1) and more particularly the specific impact of neuropsychological deficits. In fact, cognitive impairment is currently considered as one of the most pervasive features of this genetic disorder but its relationship with the worsening of quality of life found in this population has not been directly investigated to date.
Secondary objectives of this study are (i) to compare neuropsychological and quality of life measures between patients and healthy controls matched by age, gender and education level, (ii) to contrast neuropsychological deficits incidence between patients and controls, and (iii) to differentiate NF1 children's self versus hetero-assessment of quality of life.
The main hypothesis of this study is that the neuropsychological impairment classically identified in this clinical population will be associated to the quality of life's worsening both in children and adults.
Detailed Description:
The study cohort will consist of 150 patients with NF1 (100 adults and 50 children) recruited from the Neurofibromatosis Clinic at the University Hospital in Nantes and Créteil (France). A sample of 150 healthy controls (100 adults and 50 children) will also be recruited from sport and leisure clubs to serve as a normally developing control group.
The protocol assessment includes a standard and thorough neuropsychological examination specific to children and adults, to investigate the different aspects of cognitive domains: language, visuoperceptive and visuomotor abilities, memory, attention, executive function and intelligence skills. Quality of life is measured by a questionnaire specifically adapted to children and adults.
Other factors linked to the NF1 disease (familial or sporadic form, severity and visibility) and to demographic characteristics (sex, age, education level) will be taken into account to study their respective impact on quality of life, as compared with neuropsychological measures.
Study:
NCT01851135
Study Brief:
Protocol Section:
NCT01851135