ArticleContemporary clinical trials2013
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.
Article in Contemporary clinical trials, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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
20 citing papers in PubMed, 2 syntheses or guidelines pooled it, 27 citations in OpenAlex.
- Involving patients in reducing decision uncertainties around orphan and ultra-orphan drugs: a rare opportunity?The patient · 2015Pooled it
- A systematic review of approaches for engaging patients for research on rare diseases.Journal of general internal medicine · 2014Pooled it
- The Wechsler intelligence scale for children, fourth and fifth editions perform comparably in children with Batten disease.Orphanet journal of rare diseases · 2025Article
- Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes.Orphanet journal of rare diseases · 2025Article
- Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis.International journal of molecular sciences · 2022Review
- The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2022Article
- Article
- Determining the Suitability of Registries for Embedding Clinical Trials in the United States: A Project of the Clinical Trials Transformation Initiative.Therapeutic innovation & regulatory science · 2021Review
- COVID-PCD: a participatory research study on the impact of COVID-19 in people with primary ciliary dyskinesia.ERJ open research · 2021Article
- Therapeutic landscape for Batten disease: current treatments and future prospects.Nature reviews. Neurology · 2019Review
- Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis).JIMD reports · 2019Article
- 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
- An overview of the impact of rare disease characteristics on research methodology.Orphanet journal of rare diseases · 2018Review
- Mitochondrial disease patient motivations and barriers to participate in clinical trials.PloS one · 2018Article
- Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping review.Orphanet journal of rare diseases · 2017Article
- Remote Assessment of Cognitive Function in Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease): A Pilot Study of Feasibility and Reliability.Journal of child neurology · 2016Article
- Future perspectives: Moving towards NCL treatments.Biochimica et biophysica acta · 2015Review
- Article
- Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis.Developmental medicine and child neurology · 2015Article
- Classification and natural history of the neuronal ceroid lipofuscinoses.Journal of child neurology · 2013Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 2 institutions in 1 country.
Funding
Abstract
introductionJuvenile neuronal ceroid lipofuscinosis (JNCL; Batten disease) is a rare, inherited, fatal lysosomal storage childhood disorder. True for many rare diseases, there are no treatments that impact the course of JNCL. The University of Rochester Batten Center's (URBC) mission is to find treatments to slow, halt, or prevent JNCL.
objectivesOur initial objective was to develop clinical research infrastructure preparatory to clinical trials, establish a JNCL research cohort, construct a disease-specific clinical outcome measure, and validate a non-invasive diagnostic sampling method. The long-term objective is to design and implement JNCL clinical trials.
methodsThe Unified Batten Disease Rating Scale (UBDRS) was developed. The Batten Disease Support and Research Association (BDSRA) referred participants; annual BDSRA meetings provided a mobile research setting for registry enrollment and UBDRS piloting. Neuropsychological examinations were performed, enabling external validation of the UBDRS. Buccal epithelial cell collection for genotyping was introduced. Telemedicine for remote UBDRS assessment was piloted.
resultsThe registry enrolled 198 families representing 237 children with NCL. The UBDRS was piloted, was validated and has been used to collect natural history data from 120 subjects. Funding and regulatory approval were obtained for a recently launched phase II clinical trial. Several additional lines of inquiry were reported.
conclusionThe registry and BDSRA collaboration have enabled development of a clinical rating scale, natural history and neuropsychological studies, and genetic studies for disease confirmation. This work highlights an approach for preparatory natural history research and infrastructure development needed to facilitate efficient implementation of clinical trials in rare diseases.
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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.