Active clinical trials for "Epidermolysis Bullosa"

OBJECTIVES: I. Characterize the nutritional and metabolic profile of children and adolescents with epidermolysis bullosa. II. Determine patterns of body composition in these patients. III. Determine the energy requirements of these patients by measuring resting energy expenditure. IV. Assess protein nutrition by measuring lean body mass.

Hereditary Epidermolysis Bullosa (EBH) are rare dermatologic diseases characterized by cutaneous and mucosa fragility. Oral manifestations of few small cohort have been published. The main objective of this multicentric cohort study first in Europe was to report the oral status of these patients that were consulted in the MRDRC of this disease in Nice (France), Toulouse (France) and Louvain (Belgium). Then a correlation between the oral characteristics and the EBH type will be made, in order to facilitate the management of patient care and the prevention program that can be established to improve their oral health.

Hereditary epidermolysis bullosa (HEB) are rare genodermatoses, clinically characterized by epithelial and subepithelial fragility leading to the formation of blisters and spontaneous erosions on skin at the slightest contact, with possible mucosal damage. The care of these patients consists of therapeutic baths leading to renew bandages that sometimes covering the entire integument. These are difficult, delicate and painful moments that patients experience daily at home. For an unexplained reason for 70 to 80% of them, the weak or strong opioid analgesics, deemed necessary and prescribed for good pain control, are not taken on a regular basis as a premedication for baths and dressing changes. The aim of the study is to understand the child's brakes on taking weak or strong opioid analgesics at the time of care and the parents' difficulties in giving these treatments by means of individual interviews.

The objective of this study is to characterize the extent and severity of disease in subjects with DEB and the progression of disease over a timeframe relevant to interventional studies. The data from this study will be used to inform the study design and address statistical considerations of future treatment protocols.

The aim of the study is to determine the state of sexual development in patients with inherited epidermolysis bullosa; the study is planned to include boys and girls aged 8 to 18 years with a diagnosis of epidermolysis bullosa simplex, junctional epidermolysis bullosa, Kindler syndrome.

Recessive Dystrophic Epidermolysis Bullosa (RDEB) is one of the most severe rare inherited skin disorders affecting children and adults. Current medical care protocols for RDEB patients are limited to palliative procedures to treat blistering and erosive lesions, wounds, and severe local and systemic complications such as fusion and contracture of the digits, skin cancer, esophageal stricture, severe anemia, infections, malnutrition and growth retardation. However, current medical treatments still cannot prevent the recurrence of the lesions arising from defective expression of type VII collagen (COL7A1), the main constituent of anchoring fibrils which form essential structures for dermal-epidermal adherence. The purpose of this study is to investigate the capacity of keratinocytes and fibroblasts to repair skin wounds in patients suffering from Recessive Dystrophic Epidermolysis Bullosa (RDEB).

This study investigates the genetic architecture of Neutrophil-Mediated Inflammatory Skin Diseases. After collecting informed consent, all patients' clinical phenotype is graded at inclusion with a detailed case report form and a discovery cohort formed based on the certainty of diagnosis. The DNA of patients in the discovery cohort is analyzed by whole exome sequencing which identifies all protein-coding genetic variants. Subsequently, statistical burden tests are going to identify enrichment of rare coding genetic variants in patients affected by Neutrophil-Mediated Inflammatory Skin Diseases. The ultimate goal is to reveal the responsible gene(s) that may then be targets for clinical intervention.

Dystrophic epidermolysis bullosa is a rare genetic pathology resulting in fragility of the skin and mucous membranes, causing bubbles and wounds following trauma. Scarring is pathological with a tendency to retraction. The gynecological and in particular the vulvovaginal mucous membranes can be affected but no description of any series is available in the literature. Likewise, some of these patients have a sexual and obstetrical life, despite sometimes-severe damage, but again no specific data is available. The investitigator thus wish to carry out a non-interventional multicenter prospective descriptive study. Better knowledge of gynecological semiology in patients with EBD will allow better adaptation of gynecological follow-up, screening for STDs and gynecological cancers, as well as possible specific complications. This study would eventually allow the draw up of recommendations for our gynecologist / obstetrician colleagues.

This study will collect genetic and clinical information of junctional epidermolysis bullosa (JEB) patients. Computer analysis will be performed on genetic mutations found in these patients and this will be correlated with their clinical characteristics.

This study seeks to correlate microbiome sequencing data with information provided by patients and their medical records.