Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
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 :
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Measure | Description | Time Frame |
|---|---|---|
| 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. | Through study completion, an average of 5 years |
| Measure | Description | 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 |
Not provided
Inclusion criteria :
Non-inclusion criteria :
Not provided
Not provided
Not provided
Not provided
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.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Christine BODEMER | Contact | + 33 1 44 49 46 72 | christine.bodemer@aphp.fr |
| Name | Affiliation | Role |
|---|---|---|
| Christine BODEMER | INSERM UMR 1163 | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hôpital Avicenne | Not yet recruiting | Bobigny | France |
Not provided
Not provided
Not provided
Not provided
| 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 |
| Hôpital des Enfants - Groupe Hospitalier Pellegrin | Not yet recruiting | Bordeaux | France |
|
| Hôpital des Enfants - Groupe Hospitalier Pellegrin | Not yet recruiting | Bordeaux | France |
|
| Hôpital Henri-Mondor | Not yet recruiting | Créteil | France |
|
| Hôpital François Mitterrand | Not yet recruiting | Dijon | France |
|
| Hôpital Dupuytren | Not yet recruiting | Limoges | France |
|
| Hôpital de la Timone | Not yet recruiting | Marseille | France |
|
| Hôpital Saint-Eloi | Not yet recruiting | Montpellier | France |
|
| Hôpital l'Archet | Recruiting | Nice | France |
|
| Hôpital Necker-Enfants Malades | Recruiting | Paris | France |
|
| Hôpital Saint-Louis | Recruiting | Paris | France |
|
| Hôpital Robert-Debré | Not yet recruiting | Reims | France |
|
| Hôpital Charles Nicolle | Recruiting | Rouen | France |
|
| Hôpital Larrey | Recruiting | Toulouse | France |
|
| Hôpital Trousseau | Recruiting | Tours | France |
|
| ID | Term |
|---|---|
| D007057 | Ichthyosis |
| D004476 | Ectodermal Dysplasia |
| D007184 | Incontinentia Pigmenti |
| D009456 | Neurofibromatosis 1 |
| D000417 | Albinism |
| D010392 | Pemphigus |
| D010390 | Pemphigoid, Benign Mucous Membrane |
| D007645 | Keratoderma, Palmoplantar |
| ID | Term |
|---|---|
| D012868 | Skin Abnormalities |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D007232 | Infant, Newborn, Diseases |
| D007642 | Keratosis |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D000015 | Abnormalities, Multiple |
| D012873 | Skin Diseases, Genetic |
| D030342 | Genetic Diseases, Inborn |
| D010859 | Pigmentation Disorders |
| D017253 | Neurofibromatoses |
| D009455 | Neurofibroma |
| D018317 | Nerve Sheath Neoplasms |
| D009380 | Neoplasms, Nerve Tissue |
| D009370 | Neoplasms by Histologic Type |
| D009369 | Neoplasms |
| D009386 | Neoplastic Syndromes, Hereditary |
| D020752 | Neurocutaneous Syndromes |
| D009422 | Nervous System Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D015785 | Eye Diseases, Hereditary |
| D005128 | Eye Diseases |
| D000592 | Amino Acid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D017496 | Hypopigmentation |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D012872 | Skin Diseases, Vesiculobullous |
| D001327 | Autoimmune Diseases |
| D007154 | Immune System Diseases |
| D003229 | Conjunctival Diseases |
Not provided
Not provided