Skin and Connective Tissue Diseases

All Conditions

Diseases and Abnormalities at or Before Birth

Eye Diseases

Immune System Diseases

Neoplasms

Nervous System Diseases

Nutritional and Metabolic Diseases

Symptoms and General Pathology

Rare Diseases

Skin Diseases

Epidermolysis Bullosa

Pemphigoid, Benign Mucous Membrane

Pemphigoid, Bullous

Neurofibromatoses

Neurofibromatosis 1

Neurofibroma

Ichthyosis

Albinism

Ectodermal Dysplasia

Keratoderma, Palmoplantar

Pemphigus

Incontinentia Pigmenti

Nerve Sheath Neoplasms

Neoplasms, Nerve Tissue

Neoplasms by Histologic Type

Syndrome

Neoplastic Syndromes, Hereditary

Neurocutaneous Syndromes

Heredodegenerative Disorders, Nervous System

Neurodegenerative Diseases

Genetic Diseases, Inborn

Peripheral Nervous System Diseases

Neuromuscular Diseases

Congenital Abnormalities

Skin Abnormalities

Skin Diseases, Genetic

Skin Diseases, Vesiculobullous

Autoimmune Diseases

Infant, Newborn, Diseases

Keratosis, Actinic

Keratosis

Abnormalities, Multiple

Eye Diseases, Hereditary

Metabolism, Inborn Errors

Amino Acid Metabolism, Inborn Errors

Hypopigmentation

Pigmentation Disorders

Metabolic Diseases

Conjunctival Diseases

Bullous Pemphigoid

Mucous Membrane Pemphigoid

Neurofibromatosis

Neurofibromatosis Type 1

Palmoplantar Keratoderma

Inborn Amino Acid Metabolism Disorder

Hypomelanotic Disorder

Christine BODEMER

Catherine PROST

Christine LEAUTE-LABREZE

Marie-Sylvie DOUTRE

Pierre WOLKENSTEIN

Pierre VABRE

Christophe BEDANE

Marie-Aleth RICHARD

Didier BESSIS

Christine CHIAVERINI

Emmanuelle BOURRAT

Philippe BERNARD

Pascal JOLY

Juliette MAZEREEUW-HAUTIER

Annabel MARUANI

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.

FARD (RaDiCo Cohort) (RaDiCo-FARD)

National Cohort for Evaluation of the Burden of Rare Skin Diseases

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.

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

Mouth and Tooth Diseases

Substance Related Disorders

Necrosis

Stevens-Johnson Syndrome

Stomatitis

Mouth Diseases

Stomatognathic Diseases

Exanthema

Drug Eruptions

Dermatitis

Erythema

Erythema Multiforme

Hypersensitivity

Hypersensitivity, Delayed

Drug Hypersensitivity

Drug-Related Side Effects and Adverse Reactions

Chemically-Induced Disorders

Stevens-Johnson Syndrome/toxic Epidermal Necrolysis

Anti-Inflammatory Agents

Antirheumatic Agents

Dermatologic Agents

Gastrointestinal Agents

All Drugs and Chemicals

Infliximab

Tumor Necrosis Factor Inhibitors

topical infliximab 10 mg/mL QID x 3 months followed by BID x 9 months

topical infliximab administered QID for 3 months followed by BID for 9 months

topical infliximab

James Chodosh, MD, MPH

Claes H Dohlman, MD, PhD

Mona Harissi-Dagher, MD

The Boston Keratoprosthesis type I (KPro) is a prosthetic cornea used to treat several causes of corneal blindness. Some categories of patients, including those with auto-immune diseases such as Stevens-Johnson syndrome, toxic epidermal necrolysis syndrome and mucous membrane pemphigoid, have a higher risk of failure for the KPro. Because of chronic inflammation, the cornea supporting the KPro may melt, leading to a higher risk of infection, loss of the KPro and loss of the eye.

Infliximab is an antibody against tumor necrosis factor alpha and is used intravenously to control inflammation in several diseases. It has been used in some cases of corneal melting with significant success.

This study's hypothesis is that infliximab can be successfully used as an eye drop (instead of the usual administration through veins) and that its regular use may prevent melt in eyes with a Boston Keratoprosthesis type I and underlying auto-immune disease.

This is an unmasked, prospective, multicenter clinical trial of four patients that are candidates for a Boston Keratoprosthesis or have had prior KPro surgery and have a diagnosis of Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis syndrome (TENS) or mucous membrane pemphigoid (MMP). Only one eye per patient will be considered for inclusion.

This is a phase I/II study to evaluate the safety and tolerance of topical infliximab 10 mg/mL eye drops. Research subjects will be required to administer infliximab eye drops four times per day for three months followed by twice daily administration for nine months. The subjects will be monitored while on the study medication as well as for one year following discontinuation of the drug. The total study duration for each patient will be two years.

Topical Infliximab in Autoimmune Eyes With Keratoprosthesis

Percentage of patients finishing 12 months of topical infliximab use

rate of corneal melting or ulceration during infliximab prophylaxis (12 months) and after the drug is stopped (following 12 months)

Ocular surface symptoms as assessed by ocular surface disease index score

Ocular surface inflammation using slit-lamp photographs and the ocular redness index (ORI)

Levels and activity of MMPs, myeloperoxidase and tissue inhibitor of MMP-1

Corneal carrier graft thickness as measured by anterior segment optical coherence tomography before, during and after treatment with infliximab

Massachusetts Eye and Ear Infirmary

Fonds de recherche en ophtalmologie de l'Université de Montréal

Associate Director of the Cornea and Refractive Surgery Service, Director of Boston Keratoprosthesis Clinical Programs

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
FARD (RaDiCo Cohort) (RaDiCo-FARD)	NCT05954416	Inherited Epide... Ichthyosis Ectodermal Dysp... Incontinentia P... Neurofibromatos... Albinism Pemphigus Mucous Membrane... Palmoplantar Ke...		-	Institut National de la Santé Et de la Recherche Médicale, France
Topical Infliximab in Autoimmune Eyes With Keratoprosthesis	NCT02126020	Stevens-Johnson... Toxic Epidermal... Mucous Membrane...	topical inflixi...	18 Years - 80 Years	Massachusetts Eye and Ear Infirmary
FARD (RaDiCo Cohort) (RaDiCo-FARD)	NCT05954416	Inherited Epide... Ichthyosis Ectodermal Dysp... Incontinentia P... Neurofibromatos... Albinism Pemphigus Mucous Membrane... Palmoplantar Ke...		-	Institut National de la Santé Et de la Recherche Médicale, France

Spots Global Cancer Trial Database for mucous membrane pemphigoid