Albinism, Ectodermal Dysplasia, Ichthyosis, Incontinentia Pigmenti, Inherited Epidermolysis Bullosa, Mucous Membrane Pemphigoid, Neurofibromatosis Type 1, Palmoplantar Keratoderma, Pemphigus
Conditions
Brief summary
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.
Interventions
None listed
Sponsors
Institut National de la Santé Et de la Recherche Médicale, France
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Individual burden score for each selected rare disease | Through study completion, an average of 5 years | 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. |
Secondary
| Measure | Time frame |
|---|---|
| Description of calculated scores based on widely used survey completed by patients | Through study completion, an average of 5 years |
| Description of calculated scores based on widely used survey completed by parents | Through study completion, an average of 5 years |
| Description of variations of quality-of-life scores. | 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. | Through study completion, an average of 5 years |
| Descriptive analysis of the socio-economic Burden. | Through study completion, an average of 5 years |
| Descriptive analysis of the Individual Health Care Cost. | Through study completion, an average of 5 years |
| Search for association between individual burden score and clinical severity of the disease. | Through study completion, an average of 5 years |
Countries
France
Contacts
CONTACTChristine BODEMER
PRINCIPAL_INVESTIGATORChristine BODEMER
INSERM UMR 1163
Outcome results
None listed