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Open Access Research

Prioritization of therapy uncertainties in Dystrophic Epidermolysis Bullosa: where should research direct to? an example of priority setting partnership in very rare disorders

Paula Davila-Seijo1*, Angela Hernández-Martín2, Evanina Morcillo-Makow3, Raúl de Lucas4, Esther Domínguez3, Natividad Romero3, Eva Monrós5, Marta Feito4, Luis Carretero3, Bea Aranegui67 and Ignacio García-Doval17

Author Affiliations

1 Department of Dermatology, Complexo Hospitalario de Pontevedra (CHOP), Doutor Loureiro Crespo 2, Pontevedra, 36001, Spain

2 Department of Pediatric Dermatoloy, Hospital Infantil Niño Jesús, Madrid, Spain

3 The Dystrophic Epidermolysis Bullosa Research Association (DEBRA), Spain, Spain

4 Pediatric Dermatology section, Department of Dermatology, Hospital Universitario de La Paz, Madrid, Spain

5 DEBRA member, Madrid, Spain

6 Department of Dermatology, Clínica Universitaria de Navarra, Madrid, Spain

7 Research Unit, Fundación AEDV, Academia Española de Dermatología y Venereología, Ferraz 100, 1° izda, Madrid, 28008, Spain

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Orphanet Journal of Rare Diseases 2013, 8:61  doi:10.1186/1750-1172-8-61

Published: 22 April 2013

Abstract

Background

Dystrophic Epidermolysis Bullosa (DEB) is a rare genodermatosis (7 cases per million) that causes blisters and erosions with minor trauma in skin and mucosa, and other systemic complications. A recently updated systematic review showed that the research evidence about DEB therapies is poor. As new trials in DEB are difficult and expensive, it is important to prioritizise research that patients and clinicians consider more relevant.

Objectives

To describe and prioritize the most important uncertainties about DEB treatment shared by patients, carers and health care professionals (HCPs) in order to promote research in those areas.

Methods

A DEB Priority Setting Partnership (PSP) was established, including patients, carers and HCPs. DBE uncertainties were gathered from patients and clinicians, and prioritized in a transparent process, using the methodology advocated by the James Lind Alliance.

Results

In the consultation stage, 323 uncertainties were submitted by 58 participants. Once the duplicated and non-treatment uncertainties were removed, the remainder were reduced to a list of 24 most voted questions. These 24 uncertainties were prioritized in a final workshop where a balanced number of patients, carers and HCPs selected the top 10 therapy uncertainties. The final list includes interventions in wound care, itch and pain management, treatment and prevention of syndactyly, cancer prevention and future promising therapies.

Conclusions

The final list of the top 10 treatment uncertainties on the management of DEB provides guidance for researchers and funding bodies, to ensure that future research answers questions that are important to both clinicians and patients. The method proposed by the James Lind Alliance is feasible for very rare disorders.

Keywords:
Dystrophic Epidermolysis Bullosa; Treatment uncertainties; Therapy uncertainties; Priority Setting Partnership; Patient participation; Research prioritization