FARD (RaDiCo Cohort) (RaDiCo-FARD)

Institut National de la Santé Et de la Recherche Médicale, France

Status: Enrolling

Conditions: Neurofibromatosis Type 1; Ectodermal Dysplasia; Palmoplantar Keratoderma; Incontinentia Pigmenti; Mucous Membrane Pemphigoid; Pemphigus; Albinism; Ichthyosis; Inherited Epidermolysis Bullosa

Study type: Observational

Funder types: Other

Identifiers

NCT05954416

C16-78

Details and patient eligibility

About

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 :

1. an individual burden score calculated based on a burden questionnaire created specifically, approved and designed to understand the tendency to changes in care and lifestyles. The burden questionnaire should be used by patients and/or their family themselves in self-assessment.
2. a descriptive analysis of all resources (medical and non-medical) used by the family unit to manage the disease.

Enrollment: 900 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion and 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