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

Study Description

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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.

Condition or disease	Intervention/treatment	Phase
Neurofibromatosis Type 1	Other: Neuropsychological examination and quality of life measures	Not Applicable

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 Design

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Study Description Study Design Arms and Interventions Outcome Measures Eligibility Criteria Contacts and Locations More Information

Study Type :	Interventional (Clinical Trial)
Actual Enrollment :	286 participants
Allocation:	Non-Randomized
Intervention Model:	Parallel Assignment
Masking:	None (Open Label)
Official Title:	Neuropsychological Impairment and Quality of Life in Neurofibromatosis Type 1
Study Start Date :	May 2013
Actual Primary Completion Date :	April 2016
Actual Study Completion Date :	April 2016

Arms and Interventions

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Study Description Study Design Arms and Interventions Outcome Measures Eligibility Criteria Contacts and Locations More Information

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

Outcome Measures

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Primary Outcome Measures :

1. Quality of life as measured by the questionnaires used in children and adults [ Time Frame: at day 0 for adults; at 4 weeks for children ]
   Several domains in relation with quality of life (self perception, well-being, social life, emotions, etc.)

Secondary Outcome Measures :

1. Scores obtained from neuropsychological tests (composite measure) [ Time Frame: at day 0 and 2 weeks for adults; at day 0, 2 weeks and 4 weeks for children ]
   The neuropsychological tests used in this study evaluate different domains: language, visuoperceptive and visuomotor abilities, memory, attention, executive function and intelligence skills.

Eligibility Criteria

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Study Description Study Design Arms and Interventions Outcome Measures Eligibility Criteria Contacts and Locations More Information

Ages Eligible for Study:	8 Years to 59 Years (Child, Adult)
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	Yes

Criteria

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

Contacts and Locations

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Study Description Study Design Arms and Interventions Outcome Measures Eligibility Criteria Contacts and Locations More Information

Locations

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

Sponsors and Collaborators

Nantes University Hospital

Université d'Angers (Angers, France)

Association Neurofibromatoses et Recklinghaüsen

Investigators

Principal Investigator:	Sébastien Barbarot, MD	Nantes University Hospital

More Information

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Study Description Study Design Arms and Interventions Outcome Measures Eligibility Criteria Contacts and Locations More Information

Responsible Party:	Nantes University Hospital
ClinicalTrials.gov Identifier:	NCT01851135 History of Changes
Other Study ID Numbers:	RC12_0130
First Posted:	May 10, 2013
Last Update Posted:	July 6, 2016
Last Verified:	July 2016

Keywords provided by Nantes University Hospital:

Quality of life; Neuropsychological disorders; Neurofibromatosis type 1

Additional relevant MeSH terms:

Neurofibromatoses; Neurofibromatosis 1; Neurofibroma; Nerve Sheath Neoplasms; Neoplasms, Nerve Tissue; Neoplasms by Histologic Type; Neoplasms; Neoplastic Syndromes, Hereditary; Neurocutaneous Syndromes	Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Peripheral Nervous System Diseases; Neuromuscular Diseases; Peripheral Nervous System Neoplasms; Nervous System Neoplasms