Neuropsychological Impairment and Quality of Life in Neurofibromatosis Type 1

Neurofibromatosis Type 1 Clinical Trial

— NF1-QDV  

Official title:

Neuropsychological Impairment and Quality of Life in Neurofibromatosis Type 1

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01851135
• Other study ID #: RC12_0130
• Status: Completed
• Phase: N/A
• First received: April 24, 2013
• Last updated: July 5, 2016
• Start date: May 2013
• Est. completion date: April 2016

Study information

• Verified date: July 2016
• Source: Nantes University Hospital
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Agence Nationale de Sécurité du Médicament et des produits de santé
• Study type: Interventional

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 286
• Est. completion date: April 2016
• Est. primary completion date: April 2016
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: 8 Years to 59 Years

Eligibility

Inclusion Criteria for Patients :

• NF1 diagnosis following National Institutes of Health criteria (1988)

• Age: 8-12 years for children, 18-59 years for adults

• Signed informed written consent (parent and patient for children, patient for adults)

• French speaking

• Resident in France

Inclusion Criteria for Healthy controls:

• Absence of NF1 diagnosis, learning disabilities, intellectual precocity

• Age: 8-12 years for children, 18-59 years for adults

• Signed informed written consent (parent and healthy control for children, healthy control for adults)

• French speaking

• Resident in France

Exclusion Criteria:

• Uncorrectable hearing of visual impairment

• History of psychiatric illness

• Neuropsychological investigation in the last 6 months

• Insufficient language usage

• Any other known history of central nervous system pathology or neuropathological complications of NF1

Study Design

Allocation: Non-Randomized, Intervention Model: Parallel Assignment, Masking: Open Label

Related Conditions & MeSH terms

• Neurofibroma
• Neurofibromatoses
• Neurofibromatosis 1
• Neurofibromatosis Type 1

Intervention

Other:
• Neuropsychological examination and quality of life measures

Locations

Country	Name	City	State
France	Assistance Publique - Hôpitaux de Paris (Hôpital Henri Mondor)	Créteil
France	Centre Hospitalier Universitaire de Nantes	Nantes

Sponsors (3)

Lead Sponsor	Collaborator
Nantes University Hospital	Association Neurofibromatoses et Recklinghaüsen, Université d'Angers (Angers, France)

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Quality of life as measured by the questionnaires used in children and adults	Several domains in relation with quality of life (self perception, well-being, social life, emotions, etc.)	at day 0 for adults; at 4 weeks for children	No
Secondary	Scores obtained from neuropsychological tests (composite measure)	The neuropsychological tests used in this study evaluate different domains: language, visuoperceptive and visuomotor abilities, memory, attention, executive function and intelligence skills.	at day 0 and 2 weeks for adults; at day 0, 2 weeks and 4 weeks for children	No