ArticleNeurology2011
Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease).
Article in Neurology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03770572 (Phase I/IIa Gene Transfer Clinical Trial for Juvenile Neuronal Ceroid Lipofuscinosis, Delivering the CLN3 Gene by Self-Complementary AAV9), which is not on this map. Cited by 37 papers, 1 of them a synthesis that pooled it.
What it found
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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.
Phase I/IIa Gene Transfer Clinical Trial for Juvenile Neuronal Ceroid Lipofuscinosis, Delivering the CLN3 Gene by Self-Complementary AAV9
Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 63 citations in OpenAlex.
- Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodology.Orphanet journal of rare diseases · 2026Guideline
- Long-Term Open-Label Study Evaluating Oral Miglustat Treatment in Patients With Neuronal Ceroid Lipofuscinosis Type 3.Neurology · 2025Trial
- Evaluating Precision and Responsiveness of MRI-derived Brain Volumetric and Clinical Outcome Measures in CLN3 Disease.medRxiv : the preprint server for health sciences · 2026Article
- Longitudinal Exploration of Auditory Sensory-Perceptual Processing in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): A High-Density Auditory Evoked Potential (AEP) Study.bioRxiv : the preprint server for biology · 2025Article
- Trial Readiness: Understanding the Natural History of Rare Diseases.Journal of inherited metabolic disease · 2025Review
- Impact of CLN3 Disease on Child Quality of Life and Family Function.Pediatric neurology · 2025Observational
- Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease.Journal of inherited metabolic disease · 2025Article
- Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacement Therapy.Neurology · 2024Article
- The parent and family impact of CLN3 disease: an observational survey-based study.Orphanet journal of rare diseases · 2024Observational
- Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN).Journal of neurodevelopmental disorders · 2024Article
- Brain proton MR spectroscopy measurements in CLN3 disease.Molecular genetics and metabolism · 2023Article
- 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
- Use of the Vineland-3, a measure of adaptive functioning, in CLN3.American journal of medical genetics. Part A · 2022Observational
- Cross-sectional Observations on the Natural History of Mucolipidosis Type IV.Neurology. Genetics · 2022Article
- Natural History Studies in NCL and Their Expanding Role in Drug Development: Experiences From CLN2 Disease and Relevance for Clinical Trials.Frontiers in neurology · 2022Review
- A diagnostic confidence scheme for CLN3 disease.Journal of inherited metabolic disease · 2021Observational
- Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures.Journal of inherited metabolic disease · 2021Observational
- Characterizing upper limb function in the context of activities of daily living in CLN3 disease.American journal of medical genetics. Part A · 2021Article
- A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor-RPE interface.Communications biology · 2021Article
- Paroxysmal sympathetic hyperactivity following status epilepticus in a 22-year-old with Juvenile Neuronal Ceroid Lipofuscinosis: A case report.Epilepsy & behavior reports · 2021Article
Corrections and comments
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Authors and funding
15 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo use the Unified Batten Disease Rating Scale (UBDRS) to measure the rate of decline in physical and functional capability domains in patients with juvenile neuronal ceroid lipofuscinosis (JNCL) or Batten disease, a neurodegenerative lysosomal storage disorder. We have evaluated the UBDRS in subjects with JNCL since 2002; during that time, the scale has been refined to improve reliability and validity. Now that therapies are being proposed to prevent, slow, or reverse the course of JNCL, the UBDRS will play an important role in quantitatively assessing clinical outcomes in research trials.
methodsWe administered the UBDRS to 82 subjects with JNCL genetically confirmed by CLN3 mutational analysis. Forty-four subjects were seen for more than one annual visit. From these data, the rate of physical impairment over time was quantified using multivariate linear regression and repeated-measures analysis.
resultsThe UBDRS Physical Impairment subscale shows worsening over time that proceeds at a quantifiable linear rate in the years following initial onset of clinical symptoms. This deterioration correlates with functional capability and is not influenced by CLN3 genotype.
conclusionThe UBDRS is a reliable and valid instrument that measures clinical progression in JNCL. Our data support the use of the UBDRS to quantify the rate of progression of physical impairment in subjects with JNCL in clinical trials.
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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.