Inherited retinal diseases (IRDs) are a broad range of diseases associated with abnormalities/degeneration of retinal cells. We aimed to identify the top 10 Australian research priorities for IRDs to ultimately facilitate more meaningful and potentially cost-effective research.
We conducted a James Lind Alliance priority setting partnership that involved two Australian-wide surveys and online workshops.
Australia-wide.
Individuals aged 16 years or older were eligible to participate if they had an IRD, were caregivers of an individual with an IRD or were health professionals providing care to this community.
In Survey 1, we gathered participants’ unanswered questions about IRDs. We grouped these into summary questions and undertook a literature review to verify if they were truly unanswered (ie, evidence uncertainties). In Survey 2, participants voted for the uncertainties that they considered a priority. Top-ranked uncertainties progressed for discussion and final prioritisation in two workshops.
In Survey 1, we collected 223 questions from 69 participants. We grouped these into 42 summary questions and confirmed 41 as evidence uncertainties. In Survey 2, 151 participants voted, with the 16 uncertainties progressing to final prioritisation. The top 10 priorities, set by the 24 workshop participants, represented (1) treatment/cure; (2) symptoms and disease progression; (3) psychosocial well-being and (4) health service delivery. The #1 priority was for treatment to prevent, slow down or stop vision loss, followed by the #2 priority to address the psychological impact of having an IRD.
The top 10 research priorities highlight the need for IRD research that takes a whole-person, systems approach. Collaborations to progress priorities will accelerate the translation of research into real-world benefits.
Cluster analysis, a machine learning-based and data-driven technique for identifying groups in data, has demonstrated its potential in a wide range of contexts. However, critical appraisal and reproducibility are often limited by insufficient reporting, ultimately hampering the interpretation and trust of key stakeholders. The present paper describes the protocol that will guide the development of a reporting guideline and checklist for studies incorporating cluster analyses—Transparent Reporting of Cluster Analyses.
Following the recommended steps for developing reporting guidelines outlined by the Enhancing the QUAlity and Transparency Of health Research Network, the work will be divided into six stages. Stage 1: literature review to guide development of initial checklist. Stage 2: drafting of the initial checklist. Stage 3: internal revision of checklist. Stage 4: Delphi study in a global sample of researchers from varying fields (n=) to derive consensus regarding items in the checklist and piloting of the checklist. Stage 5: consensus meeting to consolidate checklist. Stage 6: production of statement paper and explanation and elaboration paper. Stage 7: dissemination via journals, conferences, social media and a dedicated web platform.
Due to local regulations, the planned study is exempt from the requirement of ethical review. The findings will be disseminated through peer-reviewed publications. The checklist with explanations will also be made available freely on a dedicated web platform (troca-statement.org) and in a repository.
Poor chest health is the leading cause of early mortality in children with cerebral palsy (CP). It is also the most common reason to seek healthcare, accruing significant costs and reducing quality-of-life for children and families. Clinical trials examining chest health interventions in CP are characterised by inconsistent outcome measures, limiting the capacity for evidence synthesis to inform clinical application. The study aims to develop a core outcome set (COS) and related measurement instruments to assess, monitor and evaluate chest health in children with CP, both in research and routine clinical practice. The COS will reflect the views of children, young people, parent/carers, clinicians and researchers, emphasising under-represented groups in research and those at risk of poorer chest health.
A 3-phase methodology will be conducted in line with the Core Outcome Measures in Effectiveness Trials (COMET) Initiative. (1) Candidate outcomes will be identified through a qualitative evidence synthesis and interviews with key stakeholders. Findings will be mapped to COMET-taxonomy, generating a list of candidate outcomes. (2) An international e-Delphi survey will invite stakeholders to rate the importance of each outcome, followed by a consensus meeting to ratify the COS. (3) A structured review, guided by health measurement taxonomy, will evaluate relevant instruments, with a final meeting to agree on recommended measures for each COS domain.
Ethical approval was provided by the University of Plymouth Research Ethics Committee for the qualitative interview study (ID5116), e-Delphi study and consensus meeting (ID5636). Study findings will be published open access in a peer-reviewed journal and presented at relevant national and international conferences.
COMET registration: 2590 (https://www.comet-initiative.org/Studies/Details/2590)
CRD42024562735.
Breastfeeding is beneficial to the health of both the mother and infant. Despite recommendations to breastfeed by organisations including the WHO and the American Academy of Pediatrics, rates of breastfeeding remain below public health goals. The Mother and Infant Metabolome and Microbiome (MIMM) study is a prospective cohort study of healthy mother-term infant dyads designed to comprehensively assess the perinatal, maternal, neonatal and infant factors that are associated with breastfeeding outcomes and human milk composition.
MIMM participants were recruited from two medical centres in Boston, Massachusetts, from 2019 to 2023 and are followed for 2 years. Dyads were included if the mother delivered a singleton infant at ≥37 weeks’ gestation, was discharged home 2 and infant gestational age was 39.3 weeks. Approximately 43% of infants were born via caesarean delivery, and 45.5% were female.
MIMM study procedures include longitudinal (1) collections of maternal blood, vaginal swab, stool and milk and infant blood and stool samples and (2) assessments of breastfeeding status, child neurodevelopment and growth and maternal health at birth, 6 weeks and 6, 12, 18 and 24 months. Data collection through 18 months is complete. The overall objective of the MIMM study is to identify potential targets to improve breastfeeding outcomes, human milk composition and ultimately, maternal and child health. Preliminary analyses, reported in conference presentations (with ongoing analyses and results manuscripts pending), have found that (1) mothers with higher levels of stress were less likely to be exclusively breastfeeding their infants at 6 weeks; (2) higher breastfeeding intensity was associated with greater postpartum weight loss at 6 weeks; (3) feeding type was a more relevant predictor of feeding frequency and volume compared with feeding mode; (4) infants who received exclusive human milk had higher food enjoyment compared with those who received any formula; and (5) infants of mothers with obesity had higher average feeding volume per feed.
Data collection for the final 24-month visit is expected to be completed by August 2025. We expect that all sample assays will be completed by December 2025. Findings will continue to be submitted for presentation at scientific conferences, and we expect to publish the first findings from this cohort in manuscript format in 2025.