Evidence map›Paper›PMID 40924969›Full record

Trial reportNeurology2025

Long-Term Open-Label Study Evaluating Oral Miglustat Treatment in Patients With Neuronal Ceroid Lipofuscinosis Type 3.

Nicola Pietrafusa, Marina Trivisano, Costanza Calabrese, Angela De Dominicis, Simona Cappelletti, Cinzia Correale, Licia Salimbene, Leonardo Vallesi, Tiziana Corsetti, Nicola Specchio

Abstract readClinical Trial
PubMed Full text at PMC Publisher
In one paragraph

Trial report in Neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

  1. Review
  2. Genetic Diagnosis in Epilepsy: Implications for Clinical Management.Current neurology and neuroscience reports · 2026
    Review
  3. Off-Target Binding of Miglustat to Glycogen Debranching Enzyme.International journal of molecular sciences · 2026
    Article
  4. Article
  5. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Nicola PietrafusaNeurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies - EpiCARE, Rome, Italy.
Marina TrivisanoNeurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies - EpiCARE, Rome, Italy.ORCID 0000-0002-9841-8581
Costanza CalabreseNeurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies - EpiCARE, Rome, Italy.
Angela De DominicisNeurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies - EpiCARE, Rome, Italy.ORCID 0000-0002-8526-1511
Simona CappellettiNeurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies - EpiCARE, Rome, Italy.
Cinzia CorrealeCenter for Behavioral Sciences and Mental Health, National Institute of Health, Rome, Italy.ORCID 0000-0002-9302-5412
Licia SalimbeneNeurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies - EpiCARE, Rome, Italy.
Leonardo VallesiHospital Pharmacy Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; and.
Tiziana CorsettiHospital Pharmacy Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; and.
Nicola SpecchioNeurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies - EpiCARE, Rome, Italy.ORCID 0000-0002-8120-0287

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesNeuronal ceroid lipofuscinosis type 3 (CLN3) is a rare lysosomal storage disorder characterized by progressive neurodegeneration. No disease-modifying treatments are currently available. Miglustat, a substrate reduction therapy, has shown preclinical efficacy in CLN3 models (conference abstract). The aim of this study was to assess the long-term safety and clinical impact of miglustat in patients with CLN3 disease.

methodsThis was an open-label, single-center study conducted at Bambino Gesù Children's Hospital in Rome, Italy. Oral miglustat was titrated to 15 mg/kg/d or a maximum of 600 mg/d. Patients were assessed every 6 months using the Unified Batten Disease Rating Scale (UBDRS). The primary outcome was the annual rate of change in the UBDRS physical subscale. Clinical data were analyzed descriptively.

resultsSix patients (33% female) with a median age of 20.34 years (interquartile range [IQR] 18.25-23.84) were treated and followed for a median of 3.9 years (IQR 3.32-4.34). The mean annual change in the UBDRS physical score was +1.96 points per year (SD ± 0.80). Miglustat was well tolerated, with only mild, self-limiting gastrointestinal side effects observed. DISCUSSION: Miglustat showed a favorable safety profile and was associated with a slower rate of physical decline compared with historical controls. Limitations include small sample size, genetic heterogeneity, and open-label design.

Indexed as

1-DeoxynojirimycinEnzyme InhibitorsNeuronal Ceroid-LipofuscinosesAdministration, OralAdolescentAdultChildFemaleHumansMaleTreatment OutcomeYoung Adult1-DeoxynojirimycinEnzyme Inhibitorsmiglustat

Identifiers

PMID40924969
PMCPMC12424071

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Registered trials

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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.