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

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.

The potential of dietary treatment in patients with glycogen storage disease type IV

“…Most case reports lack detailed information on the medical diets and formal guidelines are not available. We previously employed the strategy of priority setting partnership for stakeholder participation and patient empowerment of hepatic GSD 15 . For the GSD IV stakeholders, the top three research priorities refer to (a) natural history, (b) indications for liver transplantation, and (c) dietary restrictions.…”

The multiple faces of urinary glucose tetrasaccharide as biomarker for patients with hepatic glycogen storage diseases

“…5 Prospective studies on the clinical relevance of biomarkers for GSD are therefore highly welcomed and were recently prioritized. 9 It is important to clearly define biomarker use in different stages of the disease of interest: (1) identify the risk of developing an illness, (2) screen for subclinical disease, (3) diagnose disease, (4) categorize disease severity, and (5) predict prognosis. Metabolomics may allow us to study and identify new biomarkers for GSD patients, whereas stable isotope studies may provide a better insight in metabolic fluxes in individual patients.…”

A patient–clinician James Lind Alliance partnership to identify research priorities for hyperemesis gravidarum

“… 20 The liver glycogen storage disease PSP achieved 35% at both stages. 21 However, in comparison with other women’s health and pregnancy conditions, engagement was similar. The miscarriage PSP had 1093 participants in round one, of which only 9.5% were healthcare professionals; the endometriosis PSP achieved 20% healthcare professional participation, of which 15% had experienced the condition themselves.…”

“…By comparison, the only other international PSP for liver glycogen storage disease had three representatives (27%) from LMIC (exclusively South American countries) at its workshop. 21 This is likely due to lack of funding although, for this project, travel bursaries were available including full bursaries for participants from LMICs. The JLA does not currently have a protocol for establishing how representative an international PSP should be or indeed how internationally relevant Priority Lists can be adopted in other countries.…”