ArticleOrphanet journal of rare diseases2026
Rigorous genetic diagnosis review in natural history studies.
Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors.
Funding
Abstract
backgroundLeukodystrophies are a clinically and genetically heterogeneous group of diseases characterized by white matter abnormalities on brain magnetic resonance imaging. Clinical, biochemical, molecular, and/or neuroimaging findings collectively support the diagnosis confirmation. The heterogeneous and overlapping clinical presentations of different leukodystrophies and non-diagnostic molecular testing pose a significant challenge to establishing a definitive diagnosis in these rare diseases. The Myelin Disorders Biorepository Project is an observational research program that aims to establish new tests to diagnose leukodystrophies and describe the natural history of these disorders. Ensuring an accurate diagnosis is critical to the goals of this project, and this paper aims to describe the rigorous diagnostic review and confirmation process which was developed.
resultsWe present a diagnosis review process that contributes to an accurate diagnosis for participants enrolled in this study. Board-certified genetic counselors with expertise in these disorders audit medical records to carefully assess each enrolled participant's clinical, biochemical, and molecular features. A scale of diagnostic categories is assigned based on the record review, and a team of leukodystrophy physician experts consults for cases that require further characterization or clarification.
conclusionsThis robust review process has resulted in a database of individuals with verified diagnoses that may be easily queried for inclusion in appropriate natural history studies and/or treatment trials. This is a model framework that may be adapted and implemented by other rare disease groups.
Indexed as
Identifiers
What Socratic 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 Socratic graph.