ReviewMolecular genetics and metabolism2011
Research challenges in central nervous system manifestations of inborn errors of metabolism.
Review in Molecular genetics and metabolism, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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
16 citing papers in PubMed.
- Brain proton MR spectroscopy measurements in CLN3 disease.Molecular genetics and metabolism · 2023Article
- Anesthesia outcomes in lysosomal disorders: CLN3 and GM1 gangliosidosis.American journal of medical genetics. Part A · 2023Article
- Study design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration.Frontiers in neurology · 2023Review
- Use of the Vineland-3, a measure of adaptive functioning, in CLN3.American journal of medical genetics. Part A · 2022Observational
- Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures.Journal of inherited metabolic disease · 2021Observational
- Myelin and Lipid Composition of the Corpus Callosum in Mucopolysaccharidosis Type I Mice.Lipids · 2020Article
- 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
- In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III.Orphanet journal of rare diseases · 2017Article
- Cohort study of neurocognitive functioning and adaptive behaviour in children and adolescents with Niemann-Pick Disease type C1.Developmental medicine and child neurology · 2016Article
- Value-based reimbursement decisions for orphan drugs: a scoping review and decision framework.PharmacoEconomics · 2015Article
- Correlation of diffusion tensor imaging parameters in the canine brain.The neuroradiology journal · 2015Article
- Segmentation of the canine corpus callosum using diffusion-tensor imaging tractography.AJR. American journal of roentgenology · 2014Article
- Clinical trials in rare disease: challenges and opportunities.Journal of child neurology · 2013Article
- Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates.Contemporary clinical trials · 2013Article
- Delivering drugs to the central nervous system: an overview.Drug delivery and translational research · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
22 authors.
Funding
Abstract
The Research Challenges in CNS Manifestations of Inborn Errors of Metabolism workshop was designed to address challenges in translating potential therapies for these rare disorders, and to highlight novel therapeutic strategies and innovative approaches to CNS delivery, assessment of effects and directions for the future in the treatment of these diseases. Therapies for the brain in inborn errors represent some of the greatest challenges to translational research due to the special properties of the brain, and of inborn errors themselves. This review covers the proceedings of this workshop as submitted by participants. Scientific, ethical and regulatory issues are discussed, along with ways to measure outcomes and the conduct of clinical trials. Participants included regulatory and funding agencies, clinicians, scientists, industry and advocacy groups.
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.