Study About Annoucement of the Diagnosis of Neurofibromatosis 1 in de Novo Forms (NF1)

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic disorders. The aim of our study was to evaluate post-traumatic stress disorder (PTSD) in patients and their families following the disclosure of sporadic NF1. Diagnosis of NF1 was retained according to NIH criteria, familial forms were excluded. The French version of the Impact of Event Scale-Revised was used for the diagnosis of PTSD.

Study Overview

• Status: Completed
• Conditions: Post Traumatic Stress Disorder; Neurofibromatosis 1; Diagnoses Disease

• Study Type: Observational
• Enrollment (Actual): 31

Contacts and Locations

Study Locations

• France
  • Brest, France, 29609
    • CHRU de Brest

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

All patients or parent of a children followed for a neurofibromatosis type 1 in de novo form

Description

Inclusion Criteria:

• Patient aged 18 or more, or parent of a children
• Patient with a neurofibromatosis type 1 or parent of a children with a neurofibromatosis 1 in de novo form
• Followed for a neurofibromatosis type 1 de novo at the dedicated consultation in the University Hospital of Brest, since april 2013
• Agree to participate

Exclusion Criteria:

• Patients aged of 18 years old or lower
• Refusal to participate

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Study post traumatic stress disorder secondary to annoucement of diagnosis of neurofibromatosis type 1 in de novo form	Questionnaire Impact of Event Scale	Day 1 after diagnosis of neurofibromatosis

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Study methods of annoucement and feeling of patients with a questionnaire	Questionnaires about: methods of announcement (who? when? how?)	Day 1 after diagnosis of neurofibromatosis
Genetical analyze	Genetical analyze	Day 1 after diagnosis of neurofibromatosis
Psychological or psychiatrical impact	Psychological or psychiatrical impact	Day 1 after diagnosis of neurofibromatosis
Information about NF1	Questions about look for information about disease	Day 1 after diagnosis of neurofibromatosis

Collaborators and Investigators

• Sponsor: University Hospital, Brest

Study record dates

Study Major Dates

• Study Start (Actual): July 15, 2016
• Primary Completion (Actual): December 31, 2016
• Study Completion (Actual): December 31, 2016

Study Registration Dates

• First Submitted: September 11, 2017
• First Submitted That Met QC Criteria: September 29, 2017
• First Posted (Actual): October 2, 2017

Study Record Updates

• Last Update Posted (Actual): October 2, 2017
• Last Update Submitted That Met QC Criteria: September 29, 2017
• Last Verified: September 1, 2017

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Mental Disorders; Pathologic Processes; Nervous System Diseases; Neoplasms by Histologic Type; Neoplasms; Genetic Diseases, Inborn; Neuromuscular Diseases; Neurodegenerative Diseases; Neoplasms, Nerve Tissue; Peripheral Nervous System Diseases; Trauma and Stressor Related Disorders; Nervous System Neoplasms; Heredodegenerative Disorders, Nervous System; Neoplastic Syndromes, Hereditary; Nerve Sheath Neoplasms; Neurocutaneous Syndromes; Peripheral Nervous System Neoplasms; Disease; Stress Disorders, Traumatic; Stress Disorders, Post-Traumatic; Neurofibromatoses; Neurofibromatosis 1; Neurofibroma
• Other Study ID Numbers: NF1

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No