Neuropsychological Impairment and Quality of Life in Neurofibromatosis Type 1 (NF1-QDV)

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.

Study Overview

• Status: Completed
• Conditions: Neurofibromatosis Type 1
• Intervention / Treatment: Other: Neuropsychological examination and quality of life measures

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 Type: Interventional
• Enrollment (Actual): 286
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Créteil, France, 94010
    • Assistance Publique - Hôpitaux de Paris (Hôpital Henri Mondor)
  • Nantes, France, 44093
    • Centre Hospitalier Universitaire de Nantes

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 8 years to 59 years (Child, Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

Description

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 Plan

How is the study designed?

Design Details

• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Healthy controls	Other: Neuropsychological examination and quality of life measures
Experimental: Patients with NF1	Other: Neuropsychological examination and quality of life measures

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: Nantes University Hospital
• Collaborators: Université d'Angers (Angers, France); Association Neurofibromatoses et Recklinghaüsen
• Investigators: Principal Investigator: Sébastien Barbarot, MD, Nantes University Hospital

Study record dates

Study Major Dates

• Study Start: May 1, 2013
• Primary Completion (Actual): April 1, 2016
• Study Completion (Actual): April 1, 2016

Study Registration Dates

• First Submitted: April 24, 2013
• First Submitted That Met QC Criteria: May 7, 2013
• First Posted (Estimate): May 10, 2013

Study Record Updates

• Last Update Posted (Estimate): July 6, 2016
• Last Update Submitted That Met QC Criteria: July 5, 2016
• Last Verified: July 1, 2016

More Information

Terms related to this study

• Keywords: Quality of life; Neurofibromatosis type 1; Neuropsychological disorders
• Additional Relevant MeSH Terms: Nervous System Diseases; Neoplasms by Histologic Type; Neoplasms; Genetic Diseases, Inborn; Neuromuscular Diseases; Neurodegenerative Diseases; Neoplasms, Nerve Tissue; Peripheral Nervous System Diseases; Nervous System Neoplasms; Heredodegenerative Disorders, Nervous System; Neoplastic Syndromes, Hereditary; Nerve Sheath Neoplasms; Neurocutaneous Syndromes; Peripheral Nervous System Neoplasms; Neurofibromatoses; Neurofibromatosis 1; Neurofibroma
• Other Study ID Numbers: RC12_0130