Assessing the burden of rare skin diseases
National Cohort for Evaluation of the Burden of Rare Skin Diseases
This study is trying to understand how nine rare skin diseases affect the daily lives of patients and their families, including their emotional, social, and financial challenges.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 900 (estimated) |
| Sex | All |
| Sponsor | Institut National de la Santé Et de la Recherche Médicale, France Government |
| Locations | 15 sites (Bobigny and 14 other locations) |
| Trial ID | NCT05954416 on ClinicalTrials.gov |
What this trial studies
This observational study aims to evaluate the individual burden of nine rare skin diseases, including Inherited Epidermolysis Bullosa and Neurofibromatosis Type 1, by assessing various aspects of disability such as psychological, social, economic, and physical impacts on patients and their families. Participants will complete a specially designed burden questionnaire for self-assessment, and a descriptive analysis will be conducted on the resources utilized by families to manage these conditions. The study will involve both adults and children diagnosed with these diseases who are receiving care at designated healthcare centers.
Who should consider this trial
Good fit: Ideal candidates include adults or children with a confirmed diagnosis of one of the specified rare skin diseases who are able to understand and complete a survey.
Not a fit: Patients without a confirmed diagnosis or those unable to participate in the survey due to comprehension issues may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide valuable insights into the comprehensive impact of rare skin diseases, potentially guiding better care strategies and support for affected patients and families.
How similar studies have performed: While this approach is focused on assessing the burden of rare skin diseases, similar observational studies have shown success in understanding patient experiences and outcomes in other chronic conditions.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion criteria : * adults or children with a confirmed diagnosis of one of the 9 following rare skin disease: Inherited epidermolysis bullosa, Ichthyosis, Ectodermal dysplasia, Incontinetia Pigmenti, Neurofibromatosis type 1, Albinism, Pemphigus, Mucous membrane pemphigoid or Palmoplantar keratoderma. * prevalent or incident and followed in one the reference/competence centers of the FIMARAD healthcare network, * able to understand a survey (for child, survey should be understood by parents), * having given their signed consent to participate to the cohort RaDiCo-FARD (parents' consent for child). Non-inclusion criteria : * Patients, for whom regular care follow-up is not feasible with the FIMARAD healthcare network sites, * Unconfirmed diagnosis (according to criteria for each disease), * Patients (and/or parents) not able to understand a survey * Patients (and/or parents) not having given their signed consent to participate to the study
Where this trial is running
Bobigny and 14 other locations
- Hôpital Avicenne — Bobigny, France (Not_yet_recruiting)
- Hôpital des Enfants - Groupe Hospitalier Pellegrin — Bordeaux, France (Not_yet_recruiting)
- Hôpital des Enfants - Groupe Hospitalier Pellegrin — Bordeaux, France (Not_yet_recruiting)
- Hôpital Henri-Mondor — Créteil, France (Not_yet_recruiting)
- Hôpital François Mitterrand — Dijon, France (Not_yet_recruiting)
- Hôpital Dupuytren — Limoges, France (Not_yet_recruiting)
- Hôpital de la Timone — Marseille, France (Not_yet_recruiting)
- Hôpital Saint-Eloi — Montpellier, France (Not_yet_recruiting)
- Hôpital l'Archet — Nice, France (Recruiting)
- Hôpital Necker-Enfants Malades — Paris, France (Recruiting)
- Hôpital Saint-Louis — Paris, France (Recruiting)
- Hôpital Robert-Debré — Reims, France (Not_yet_recruiting)
- Hôpital Charles Nicolle — Rouen, France (Recruiting)
- Hôpital Larrey — Toulouse, France (Recruiting)
- Hôpital Trousseau — Tours, France (Recruiting)
Study contacts
- Principal investigator: Christine BODEMER — Inserm Umr 1163
- Study coordinator: Christine BODEMER
- Email: christine.bodemer@aphp.fr
- Phone: + 33 1 44 49 46 72
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.