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

This study is currently recruiting participants. (see Contacts and Locations)
Verified June 2014 by Nantes University Hospital
Sponsor:
Collaborators:
Université d'Angers (Angers, France)
Association Neurofibromatoses et Recklinghaüsen
Information provided by (Responsible Party):
Nantes University Hospital
ClinicalTrials.gov Identifier:
NCT01851135
First received: April 24, 2013
Last updated: June 6, 2014
Last verified: June 2014
  Purpose

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 Intervention
Neurofibromatosis Type 1
Other: Neuropsychological examination and quality of life measures

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: Open Label
Official Title: Neuropsychological Impairment and Quality of Life in Neurofibromatosis Type 1

Resource links provided by NLM:


Further study details as provided by Nantes University Hospital:

Primary Outcome Measures:
  • 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 ] [ Designated as safety issue: No ]
    Several domains in relation with quality of life (self perception, well-being, social life, emotions, etc.)


Secondary Outcome Measures:
  • 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 ] [ Designated as safety issue: No ]
    The neuropsychological tests used in this study evaluate different domains: language, visuoperceptive and visuomotor abilities, memory, attention, executive function and intelligence skills.


Estimated Enrollment: 300
Study Start Date: May 2013
Estimated Primary Completion Date: September 2015 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Patients with NF1 Other: Neuropsychological examination and quality of life measures
Healthy controls 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.

  Eligibility

Ages Eligible for Study:   8 Years to 59 Years
Genders Eligible for Study:   Both
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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01851135

Contacts
Contact: Arnaud Roy, PhD 33 (0) 687491950 arnaud.roy@univ-angers.fr

Locations
France
Assistance Publique - Hôpitaux de Paris (Hôpital Henri Mondor) Recruiting
Créteil, France, 94010
Principal Investigator: Pierre Wolkenstein, MD, PhD         
Centre Hospitalier Universitaire de Nantes Recruiting
Nantes, France, 44093
Contact: Sébastien Barbarot, MD         
Principal Investigator: Sébastien Barbarot, MD         
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

No publications provided

Responsible Party: Nantes University Hospital
ClinicalTrials.gov Identifier: NCT01851135     History of Changes
Other Study ID Numbers: RC12_0130
Study First Received: April 24, 2013
Last Updated: June 6, 2014
Health Authority: France: Agence Nationale de Sécurité du Médicament et des produits de santé

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

ClinicalTrials.gov processed this record on August 27, 2014