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J Inherit Metab Dis. 2019 Oct 6. doi: 10.1002/jimd.12178. [Epub ahead of print]

Research priorities for liver glycogen storage disease: An international priority setting partnership with the James Lind Alliance.

Author information

1
Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
2
Belgische Organisatie voor Kinderen en volwassenen met een Stofwisselingsziekte VZW, Belgium.
3
Paediatric Nutrition, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark.
4
Department of Pediatric Gastroenterology, Hepatology and Nutrition, Karolinska University Hospital.
5
CLINTEC, Karolinska Institutet, Stockholm, Sweden.
6
Glucolatino, Rosario, Argentina.
7
James Lind Alliance, University of Southampton, Southampton, UK.
8
Glycogen Storage Disease Program, University of Connecticut, Farmington, Connecticut.
9
Connecticut Children's Medical Center, Hartford, Connecticut.
10
Association for Glycogen Storage Disease.
11
Associação Brasileira de Glicogenose (ABGLICO), Brazil.
12
L'Association Francophone des Glycogénoses, France.
13
Scandinavian Association for Glycogen Storage Disease (SAGSD), Sweden.
14
Asociación Española de Enfermos de Glucogenosis, General Practitioner, Institut Català de la Salut (ICS), Barcelona, Spain.
15
Association for Glycogen Storage Disease, UK.
16
Associazione Italiana Glicogenosi, Italy.
17
Selbsthilfegruppe Glykogenose Deutschland e.V., Germany.

Abstract

The international liver glycogen storage disease (GSD) priority setting partnership (IGSDPSP) was established to identify the top research priorities in this area. The multiphase methodology followed the principles of the James Lind Alliance (JLA) guidebook. An international scoping survey in seven languages was distributed to patients, carers, and healthcare professionals to gather uncertainties, which were consolidated into summary questions. The existing literature was reviewed to ensure that the summary questions had not yet been answered. A second survey asked responders to prioritize these summary questions. A final shortlist of 22 questions was discussed during an international multi-stakeholder workshop, and a consensus was reached on the top 11 priorities using an adapted nominal group technique.In the first survey, a total of 1388 questions were identified from 763 responders from 58 countries. These original uncertainties were refined into 72 summary questions for a second prioritization survey. In total 562 responders from 58 countries answered the second survey. From the second survey, the top 10 for patients, carers and healthcare professionals was identified and this shortlist of 22 questions was taken to the final workshop. During the final workshop, participants identified the worldwide top 11 research priorities for liver GSD. In addition, a top three research priorities per liver GSD subtype was identified.This unique priority setting partnership is the first international, multilingual priority setting partnership focusing on ultra-rare diseases. This process provides a valuable resource for researchers and funding agencies to foster interdisciplinary and transnational research projects with a clear benefit for patients.

KEYWORDS:

James Lind Alliance; caregivers; liver glycogen storage diseases; patient participation; priority setting partnership; rare diseases; research; research priorities

PMID:
31587328
DOI:
10.1002/jimd.12178

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