Neuropsychological Impairment and Quality of Life in Neurofibromatosis Type 1

NCT ID: NCT01851135

Last Updated: 2016-07-06

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 286 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2013-05-31
• Study Completion Date: 2016-04-30

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.

Conditions

Neurofibromatosis Type 1

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: PARALLEL
• Blinding Strategy: NONE

Study Groups

Patients with NF1

Group Type: EXPERIMENTAL

Neuropsychological examination and quality of life measures

Intervention Type: OTHER

Healthy controls

Group Type: OTHER

Neuropsychological examination and quality of life measures

Intervention Type: OTHER

Interventions

Neuropsychological examination and quality of life measures

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• 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

• 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

• Minimum Eligible Age: 8 Years
• Maximum Eligible Age: 59 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Université d'Angers (Angers, France)

UNKNOWN

Sponsor Role: collaborator

Association Neurofibromatoses et Recklinghaüsen

UNKNOWN

Sponsor Role: collaborator

Nantes University Hospital

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Sébastien Barbarot, MD

Role: PRINCIPAL_INVESTIGATOR

Nantes University Hospital

Locations

Assistance Publique - Hôpitaux de Paris (Hôpital Henri Mondor)

Créteil, , France

Centre Hospitalier Universitaire de Nantes

Nantes, , France

Countries

France

Other Identifiers

RC12_0130

Identifier Type: -

Identifier Source: org_study_id