NCT01851135

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
286

participants targeted

Target at P75+ for not_applicable

Timeline
Completed

Started May 2013

Typical duration for not_applicable

Geographic Reach
1 country

2 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

April 24, 2013

Completed
7 days until next milestone

Study Start

First participant enrolled

May 1, 2013

Completed
9 days until next milestone

First Posted

Study publicly available on registry

May 10, 2013

Completed
2.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

April 1, 2016

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

April 1, 2016

Completed
Last Updated

July 6, 2016

Status Verified

July 1, 2016

Enrollment Period

2.9 years

First QC Date

April 24, 2013

Last Update Submit

July 5, 2016

Conditions

Neurofibromatosis Type 1

Keywords

Quality of lifeNeuropsychological disordersNeurofibromatosis type 1

Outcome Measures

Primary Outcomes (1)

  • 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 Outcomes (1)

  • Scores obtained from neuropsychological tests (composite measure)

    at day 0 and 2 weeks for adults; at day 0, 2 weeks and 4 weeks for children

Study Arms (2)

Patients with NF1

EXPERIMENTAL
Other: Neuropsychological examination and quality of life measures

Healthy controls

OTHER
Other: Neuropsychological examination and quality of life measures

Interventions

Neuropsychological examination and quality of life measuresOTHER
Healthy controlsPatients with NF1

Eligibility Criteria

Age8 Years - 59 Years
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64)

You may qualify if:

  • 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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

Assistance Publique - Hôpitaux de Paris (Hôpital Henri Mondor)

Créteil, 94010, France

Location

Centre Hospitalier Universitaire de Nantes

Nantes, 44093, France

Location

MeSH Terms

Conditions

Neurofibromatosis 1

Interventions

Neuropsychological Tests

Condition Hierarchy (Ancestors)

NeurofibromatosesNeurofibromaNerve Sheath NeoplasmsNeoplasms, Nerve TissueNeoplasms by Histologic TypeNeoplasmsNeoplastic Syndromes, HereditaryNeurocutaneous SyndromesNervous System DiseasesHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesPeripheral Nervous System DiseasesNeuromuscular DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Psychological TestsBehavioral Disciplines and Activities

Study Officials

  • Sébastien Barbarot, MD

    Nantes University Hospital

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NON RANDOMIZED
Masking
NONE
Intervention Model
PARALLEL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

April 24, 2013

First Posted

May 10, 2013

Study Start

May 1, 2013

Primary Completion

April 1, 2016

Study Completion

April 1, 2016

Last Updated

July 6, 2016

Record last verified: 2016-07

Locations

FR(2)