ReviewJournal of inherited metabolic disease2025
Trial Readiness: Understanding the Natural History of Rare Diseases.
Review in Journal of inherited metabolic disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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
1 citing paper in PubMed.
- Trial Readiness: Understanding the Natural History of Rare Diseases.Journal of inherited metabolic disease · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
Abstract
Inherited metabolic diseases (IMD) represent the largest and still growing group of treatable genetic disorders and are increasingly amenable to targeted interventions that achieve varying degrees of prognostic improvement. Innovative therapies are on the horizon and offer promising opportunities for disease-changing treatment for a variety of IMDs. For the development of clinical trials specifically for IMDs and in the context of trial readiness, a thorough understanding of the natural history of the IMDs is indispensable for an objective evaluation of meaningful improvement of novel treatment options. Patient registries are key instruments in this regard, since they are recognized as powerful instruments for the collection of longitudinal real-world data, elucidating the phenotypic diversity of disease courses, understanding the impact of diagnosis and treatment on clinical outcomes, and investigating prognostic factors. At the same time, they enable the collection of patient-specific outcome parameters (PROMs) that improve the understanding of the natural phenotype in rare diseases by identifying clinically relevant endpoints, disease burden over time, unmet medical needs, and the impact of diseases and prescribed diets and medication on the quality of life of patients and caregivers. Meta-analysis and quantitative retrospective natural history modeling allow the evaluation of the disease course with the help of published aggregate data, where patient registries are not available. Finally, the various data sources provide the theoretical basis for practical applications such as the creation of consensus-based guidelines, pass studies, and mathematical modeling. This review describes the various options for evaluating and understanding the natural history of rare IMDs in detail, with the ultimate aim of achieving adequate trial readiness.
Indexed as
Identifiers
What 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.