ReviewGenetics in medicine : official journal of the American College of Medical Genetics2016
Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research?
Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Pooled it
- Treatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence review.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Pooled it
- Factors in the implementation of ASH SCD guidelines on silent cerebral infarcts and cognition at a single sickle cell center.Blood advances · 2026Article
- Enhancing Patient-Centered Health Technology Assessment: A Modified Delphi Panel for PICOS Scoping in Spinal Muscular Atrophy.Journal of market access & health policy · 2026Article
- Family-centred care interventions for children with chronic conditions: A scoping review.Health expectations : an international journal of public participation in health care and health policy · 2024Article
- Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.BMC pediatrics · 2024Article
- Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry.Orphanet journal of rare diseases · 2022Review
- Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey.The patient · 2022Article
- Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study.BMJ open · 2022Article
- Acupuncture Case Registry Study: Rationale, Implementations, and Achievements.Evidence-based complementary and alternative medicine : eCAM · 2022Review
- Patient and healthcare professional eHealth literacy and needs for systemic sclerosis support: a mixed methods study.RMD open · 2021Article
- Developments in evidence creation for treatments of inborn errors of metabolism.Journal of inherited metabolic disease · 2021Review
- To what degree are orphan drugs patient-centered? A review of the current state of clinical research in rare diseases.Orphanet journal of rare diseases · 2020Review
- Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.Orphanet journal of rare diseases · 2020Article
- Clinical, genetic and microbiological characterization of pediatric patients with cystic fibrosis in a public Hospital in Ecuador.BMC pediatrics · 2020Article
- The sickle cell disease implementation consortium: Translating evidence-based guidelines into practice for sickle cell disease.American journal of hematology · 2018Article
- Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness of treatments for rare diseases.Orphanet journal of rare diseases · 2018Review
- Engagement of Canadian Patients with Rare Diseases and Their Families in the Lifecycle of Therapy: A Qualitative Study.The patient · 2018Article
- Teleneurology and mobile technologies: the future of neurological care.Nature reviews. Neurology · 2018Review
- When zebras run with horses - inherited metabolic diseases come mainstream.Reviews in endocrine & metabolic disorders · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
Abstract
There is a need for research to understand and improve health systems for rare diseases in order to ensure that new, efficacious therapies developed through basic and early translational science lead to real benefits for patients. Such research must (i) focus on appropriate patient-oriented outcomes, (ii) include robust study designs that can accommodate real-world decision priorities, and (iii) involve effective stakeholder-engagement strategies. For transformative therapies, study outcomes will need to shift toward longer-term goals in recognition of success in preventing catastrophic outcomes. For incremental therapies, outcomes should be selected in recognition of the impact of care on quality of life for patients and families. To generate new evidence, we suggest that hybrid study designs integrating elements of practice-based observational research and pragmatic trials hold the most promise for addressing priorities such as minimizing bias, accounting for cointerventions, identifying long-term impacts, and considering clinical heterogeneity. To effectively engage with stakeholders, a knowledge exchange infrastructure is needed to foster collaboration among patients with rare diseases and their families, health-care providers, researchers, and policy decision makers. A key priority for these groups must be collaboration toward a shared understanding of the outcomes that are of most relevance to the facilitation of patient-centered care.
Indexed as
Identifiers
25856667What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.