Evidence map›Paper›PMID 33407685›Full record

ArticleOrphanet journal of rare diseases2021

Fingolimod in children with Rett syndrome: the FINGORETT study.

Yvonne Naegelin, Jens Kuhle, Sabine Schädelin, Alexandre N Datta, Stefano Magon, Michael Amann, Christian Barro, Gian Paolo Ramelli, Kate Heesom, Yves-Alain Barde and 2 more

Registry-linked trialOpen access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02061137 (A Phase 1 Clinical Study to Assess Safety and Efficacy of Oral Fingolimod), which is not on this map. Cited by 20 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 2 pooled it
3.6field-weighted citation impact, top 7% of its field
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.

NCT02061137 phase1 / phase2completednot on this map

A Phase 1 Clinical Study to Assess Safety and Efficacy of Oral Fingolimod (FTY720) in Children With Rett Syndrome.

TypeinterventionalSponsorUniversity Hospital, Basel, SwitzerlandRan2013 to 2018Enrolled6ConditionsRett's SyndromeArmsfingolimod (FTY720)
3 · Its place in the literature

Who cites it

20 citing papers in PubMed, 2 syntheses or guidelines pooled it, 25 citations in OpenAlex.

  1. Meta-Analysis IdentifiesInternational journal of molecular sciences · 2022
    Pooled it
  2. Pooled it
  3. Article
  4. Toward an NGF-based therapy for Rett syndrome.Frontiers in neuroscience · 2026
    Review
  5. Characterizing circulating biomarkers for childhood dementia disorders: A scoping review of clinical trials.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2025
    Article
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  8. Article
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  11. Article
  12. Review
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  16. Article
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  19. Rett Syndrome andNeuropsychiatric disease and treatment · 2022
    Review
  20. Review
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

12 authors at 5 institutions in 3 countries.

Yvonne NaegelinNeurologic Clinic and Policlinic, Departments of Medicine, Clinical Research, Biomedicine and Biomedical Engineering, University Hospital Basel and University of Basel, Petersgraben 4, 4031, Basel, Switzerland. yvonne.naegelin@usb.ch.ORCID 0000-0002-1315-4100
Jens KuhleNeurologic Clinic and Policlinic, Departments of Medicine, Clinical Research, Biomedicine and Biomedical Engineering, University Hospital Basel and University of Basel, Petersgraben 4, 4031, Basel, Switzerland.
Sabine SchädelinClinical Trial Unit, Department of Clinical Research, University Hospital Basel, 4031, Basel, Switzerland.
Alexandre N DattaDepartment of Pediatric Neurology and Developmental Medicine, University of Basel Children's Hospital, 4056, Basel, Switzerland.
Stefano MagonNeurologic Clinic and Policlinic, Departments of Medicine, Clinical Research, Biomedicine and Biomedical Engineering, University Hospital Basel and University of Basel, Petersgraben 4, 4031, Basel, Switzerland.
Michael AmannMedical Image Analysis Center (MIAC) AG, 4051, Basel, Switzerland.
Christian BarroNeurologic Clinic and Policlinic, Departments of Medicine, Clinical Research, Biomedicine and Biomedical Engineering, University Hospital Basel and University of Basel, Petersgraben 4, 4031, Basel, Switzerland.
Gian Paolo RamelliNeuropediatric Unit, Pediatric Institute of Southern Switzerland, 6500, Bellinzona, Switzerland.
Kate HeesomUniversity of Bristol Proteomics Facility, Bristol, BS8 1TD, UK.
Yves-Alain BardeSchool of Biosciences, Cardiff University, Cardiff, CF10 3AX, UK.
Peter WeberDepartment of Pediatric Neurology and Developmental Medicine, University of Basel Children's Hospital, 4056, Basel, Switzerland.
Ludwig KapposNeurologic Clinic and Policlinic, Departments of Medicine, Clinical Research, Biomedicine and Biomedical Engineering, University Hospital Basel and University of Basel, Petersgraben 4, 4031, Basel, Switzerland.
University of Basel · CHCardiff University · GBInstitute of Oncology Research · CHUniversity Hospital of Basel · CHUniversity of Bristol · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundRett syndrome (RS) is a severe neurodevelopmental disorder for which there is no approved therapy. This study aimed to assess safety and efficacy of oral fingolimod in children with RS using a pre-post and case-control design.

methodsAt the University of Basel Children's Hospital, Basel, Switzerland, children with RS were included if they were older than 6 years and met the established diagnostic criteria of RS, including a positive MeCP2 mutation. Participants were observed 6 months before and after treatment and received 12 months of fingolimod treatment. Serum samples of 50 children without RS served as reference for brain-derived neurotrophic factor (BDNF) measurements. Primary outcome measures were safety and efficacy, the latter measured by change in levels of BDNF in serum/CSF (cerebrospinal fluid) and change in deep gray matter volumes measured by magnetic resonance imaging (MRI). Secondary outcome measure was efficacy measured by change in clinical scores [Vineland Adaptive Behaviour Scale (VABS), Rett Severity Scale (RSSS) and Hand Apraxia Scale (HAS)].

resultsSix children with RS (all girls, mean and SD age 11.3 ± 3.1 years) were included. Serum samples of 50 children without RS (25 females, mean and SD age 13.5 ± 3.9 years) served as reference for BDNF measurements. No serious adverse events occurred. Primary and secondary outcome measures were not met. CSF BDNF levels were associated with all clinical scores: RSSS (estimate - 0.04, mult.effect 0.96, CI [0.94; 0.98], p = 0.03), HAS (estimate - 0.09, mult.effect 0.91, CI [0.89; 0.94], p <  0.01) and VABS (communication: estimate 0.03, mult.effect 1.03, CI [1.02; 1.04], p < 0.01/daily living: estimate 0.03, mult.effect 1.03, CI [1.02; 1.04], p < 0.01/social skills: estimate 0.07, mult.effect 1.08, CI [1.05; 1.11], p < 0.01/motoric skills: estimate 0.04, mult.effect 1.04, CI [1.03; 1.06], p = 0.02).

conclusionsIn children with RS, treatment with fingolimod was safe. The study did not provide supportive evidence for an effect of fingolimod on clinical, laboratory, and imaging measures. CSF BDNF levels were associated with clinical scores, indicating a need to further evaluate its potential as a biomarker for RS. This finding should be further validated in independent patient groups.

trial registrationClinical Trials.gov NCT02061137, registered on August 27th 2013, https://clinicaltrials.gov/ct2/show/study/NCT02061137 .

Indexed as

Neurodevelopmental DisordersRett SyndromeAdolescentChildFemaleFingolimod HydrochlorideHumansMethyl-CpG-Binding Protein 2SwitzerlandFingolimod HydrochlorideMethyl-CpG-Binding Protein 2BDNFFingolimodRett syndrome

Identifiers

PMID33407685
PMCPMC7789265
OpenAlexW3120653292

What OpenQuestion holds

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LicenceCC BY
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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.