An observational study in Inherited Epidermolysis Bullosa, Ichthyosis and Ectodermal Dysplasia, sponsored by Institut National de la Santé Et de la Recherche Médicale, France. Recruiting at 15 sites in France. Per ClinicalTrials.gov, last updated 2026-02-12.
Sponsored by Institut National de la Santé Et de la Recherche Médicale, France · Observational
The goal of this observational study is to conduct a prospective assessment of the individual Burden of 9 rare skin diseases to assess disability in the broadest sense of the term (psychological, social, economic and physical) for patients and/or families.
Two types of indicators will be used to reach this objective :
33 studies on the registry are indexed under Ichthyosis; 11 are open to participants now.
Browse Ichthyosis studies →Institut National de la Santé Et de la Recherche Médicale, France is the lead sponsor of 378 studies on the registry; 81 are open to participants now.
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This study concerns patients affected by one the 9 following rare skin diseases: Inherited epidermolysis bullosa, ichthyosis, ectodermal dysplasia, Incontinentia Pigmenti, neurofibromatosis type 1, albinism, pemphigus, mucous membrane pemphigoid, and palmoplantar keratoderma recruited and followed in a reference/competence centre of the healthcare network of rare dermatologic diseases, FIMARAD.
Inclusion criteria :
Non-inclusion criteria :
Individual burden score for each selected rare disease
Before 16 years old, we will focus on the burden of families. After 16 years old, the patient's parent will continue to answer to the family Burden questionnaire and the patient will start to answer to the adult's Burden questionnaire.
Time frame: Through study completion, an average of 5 years
Description of calculated scores based on widely used survey completed by patients
Time frame: Through study completion, an average of 5 years
Description of calculated scores based on widely used survey completed by parents
Time frame: Through study completion, an average of 5 years
Description of variations of quality-of-life scores.
Time frame: Through study completion, an average of 5 years
Validation of the clinical severity score for disease which have none at the beginning of the study and description of clinical severity score.
Time frame: Through study completion, an average of 5 years
Descriptive analysis of the socio-economic Burden.
Time frame: Through study completion, an average of 5 years
Descriptive analysis of the Individual Health Care Cost.
Time frame: Through study completion, an average of 5 years
Search for association between individual burden score and clinical severity of the disease.
Time frame: Through study completion, an average of 5 years
Started Mar 2018 (actual). Primary completion is estimated for Mar 2027, 108 months after the start.
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