Evaluation of Socio-professional Inclusion for Young Adults Aged 15-25 Living With a Rare Genetic Disability (ImagineLaSuite)

Rare diseases are often synonymous with difficulties for sufferers, whether physical, mental or social. Patients suffering from rare diseases face specific problems, such as the long wait for a diagnosis, the geographical distance between the rare disease reference center and home, and the isolation created by this very disabling disease... Children suffering from rare genetic diseases have difficulty accessing higher education, but above all in finding an internship or work-study placement, due to the rarity of their disability.

The aim of this study, entitled "Imagine La Suite", is to assess the difficulties encountered by young people with rare genetic diseases and disabilities in their search for vocational and university training or employment.

Study Overview

• Status: Recruiting
• Conditions: Rare Diseases
• Intervention / Treatment: Other: survey

• Study Type: Observational
• Enrollment (Estimated): 300

Contacts and Locations

• Study Contact: Name: Fatima clinical project manager, Medical doctor; Phone Number: +33 (0)1 42 75 45 65; Email: recherche-clinique@institutimagine.org

Study Locations

• France
  • Île-de-France Region
    • Paris, Île-de-France Region, France, 75015
      • Recruiting
      • Imagine Clinical Research
      • Contact: Fatima MADANI ALAOUI, Medical Doctor; Phone Number: +33 (0)1 42 75 45 65; Email: recherche-clinique@institutimagine.org

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: N/A

• Sampling Method: Non-Probability Sample

Study Population

Patients currently aged 15-25 born between 1997 and 2007 and followed at Necker in the networks of the following disease reference centers:

• epilepsy without deficiency ;
• genodermatosis ;
• constitutional bone diseases ;
• craniofacial malformations;
• deafness;

Description

Inclusion Criteria:

• Current age 15-25 years born between 1997 and 2007

• Rare genetic disease confirmed by a genetic test, originating in childhood and followed at Necker in the networks of the following disease reference centers:

  • epilepsy without deficiency ;
  • genodermatosis ;
  • constitutional bone diseases ;
  • craniofacial malformations;
  • deafness;

Exclusion Criteria:

• Patient or parent's opposition to study participation
• Patient with intellectual disability (IQ < 70)
• Patients with pathologies involving intellectual disability and patients with a clinical sign of intellectual disability.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Entry into a training program, validation of a diploma, obtaining a 1st stable job	18 Months

Secondary Outcome Measures

Outcome Measure	Time Frame
Characterize the pathology components of the care pathway, barriers/ strengths to inclusion	18 Months
Use of tools to facilitate socio-professional inclusion	18 Months
Number of HR company representatives made aware of rare diseases	18 Months

Collaborators and Investigators

• Sponsor: Imagine Institute

Study record dates

Study Major Dates

• Study Start (Actual): January 8, 2024
• Primary Completion (Estimated): June 8, 2026
• Study Completion (Estimated): August 8, 2026

Study Registration Dates

• First Submitted: April 7, 2026
• First Submitted That Met QC Criteria: April 7, 2026
• First Posted (Actual): April 14, 2026

Study Record Updates

• Last Update Posted (Actual): April 14, 2026
• Last Update Submitted That Met QC Criteria: April 7, 2026
• Last Verified: April 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Pathological Conditions, Signs and Symptoms; Rare Diseases; Health Care Quality, Access, and Evaluation; Investigative Techniques; Epidemiologic Methods; Data Collection; Health Care Evaluation Mechanisms; Quality of Health Care; Public Health; Environment and Public Health; Surveys and Questionnaires
• Other Study ID Numbers: HJ2023Imagine La Suite

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

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