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.
Highlights
Liver glycogen storage diseases (GSD) are ultra-rare diseases, among the oldest known inborn errors of metabolism described in literature, and classified according to the protein deficiency and the organ distribution.[1]
We describe here the first international, multilingual PSP focusing on a group of ultra-rare diseases
Carers, and healthcare professionals from 73 countries, we have identified the top 11 research priorities for liver GSD (Table 2)
Summary
Liver glycogen storage diseases (GSD) are ultra-rare diseases, among the oldest known inborn errors of metabolism described in literature, and classified according to the protein deficiency and the organ distribution.[1] Liver GSD subtypes include GSD 0, Ia, Ib, III, IV, VI, IX, and XI, and classical clinical presentations of patients include severe fasting intolerance, growth failure, and hepatomegaly. Liver GSD is associated with hypoglycemia, hyperlactatemia, increased liver enzymes, and hyperlipidemia. Long-term complications include liver adenomas, nephropathy, cardiomyopathy, and severe muscle symptoms. Strict dietary management is the cornerstone of management to maintain normal blood glucose concentrations, to suppress secondary metabolic derangements and to prevent long-term complications.[2] we understand details of the diseases that we did not some decades ago, we are still missing important information in many areas of the field
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