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Establishment of the National Epidermolysis Bullosa Registry

2014-08-27 03:58:12 | BioPortfolio

Summary

OBJECTIVES: I. Develop a large roster of well-characterized patients with various forms of inherited and acquired epidermolysis bullosa (EB).

II. Generate a large data bank of clinical, historical, and genetic information concerning these patients.

III. Accumulate donated tissue specimens, including selected cells and DNA, from selected patient subsets for the establishment of permanent tissue cell banks.

IV. Promote and facilitate research in EB.

Description

PROTOCOL OUTLINE: Patients are enrolled by mail or clinic visit at 1 of 4 clinical centers. Clinical, epidemiological, and laboratory data are collected.

Medical and family histories are obtained in a detailed interview in person, by phone, or by mail. Diagnostic studies to confirm the type of epidermolysis bullosa are performed as indicated. A pedigree chart is completed on the first affected family member entered.

Selected patients are followed at least biannually. A study duration of approximately 10 years is anticipated.

Study Design

Observational Model: Natural History, Time Perspective: Longitudinal

Conditions

Epidermolysis Bullosa

Status

Completed

Source

Office of Rare Diseases (ORD)

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:58:12-0400

Clinical Trials [54 Associated Clinical Trials listed on BioPortfolio]

Phase II Pilot Study of Extracorporeal Phototherapy for Epidermolysis Bullosa Acquisita

OBJECTIVES: I. Evaluate immunomodulation with extracorporeal photochemotherapy (ECP) in patients with epidermolysis bullosa acquisita. II. Investigate the effect of ECP on lymphocyte ac...

Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex

This study evaluates the clinical effect of foot injection of the bacteria protein Botulinum toxin A on plantar pain in patients with EBS (epidermolysis bullosa simplex).

Effect of Thymosin Beta 4 on Wound Healing in Patients With Epidermolysis Bullosa

The purpose of this study is to investigate a treatment to enhance the healing of acute and chronic nonhealing cutaneous wounds, such as the erosions experienced by patients with Epidermol...

Evaluation of the Efficacy of ROPIVACAINE in Children and Young Adults With Hereditary Epidermolysis Bullosa

The purpose of this study is to determine whether topical application of Ropivacaine is effective for treating refractory pain during dressing changes and so improve quality of life of pat...

Allogeneic ABCB5-positive Stem Cells for Treatment of Epidermolysis Bullosa

The aim of this clinical trial is to investigate the efficacy (by monitoring overall improvement of EB symptoms) and safety (by monitoring adverse events) of three doses of allo-APZ2-EB ad...

PubMed Articles [39 Associated PubMed Articles listed on BioPortfolio]

Topical sucralfate cream treatment for aplasia cutis congenita with dystrophic epidermolysis bullosa: a case study.

Bart syndrome consists of aplasia cutis congenita (ACC) and dominant or recessive dystrophic epidermolysis bullosa (DEB), associated with skin fragility and nail dysplasia. ACC in DEB is thought to be...

Pediatric Ophthalmoplegia and Ptosis in Epidermolysis Bullosa Simplex Associated With Muscular Dystrophy.

Oculomotor dysfunction in epidermolysis bullosa simplex associated with muscular dystrophy has been reported rarely in the ophthalmic literature. In a series of 6 patients with epidermolysis bullosa s...

Epidermolysis bullosa: management complexities for paediatric patients.

The genetic skin condition, epidermolysis bullosa (EB) causes the skin to be fragile and blister. As a result, blisters need to be lanced and the skin needs to be dressed with specialist dressings for...

(Invited thematic article) Prevalence and pathogenesis of osteopenia and osteoporosis in epidermolysis bullosa: An Evidence Based Review.

Osteopenia and osteoporosis are one of the many comorbidities in patients with Epidermolysis Bullosa (EB). Current literature on the prevalence of osteoporosis in EB is scarce.

Epidermolysis bullosa simplex generalized severe induces a Th17 response and is improved by Apremilast treatment.

Epidermolysis bullosa simplex generalized severe is a genetic disorder caused by mutation in KRT5 or KRT14 genes. Usually considered as a mechanical disease, recent data argue for additional inflammat...

Medical and Biotech [MESH] Definitions

A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex.

Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.

Form of epidermolysis bullosa characterized by trauma-induced, subepidermal blistering with no family history of the disease. Direct immunofluorescence shows IMMUNOGLOBULIN G deposited at the dermo-epidermal junction.

Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane.

Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties.

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Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...


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