Evidence map›Paper›PMID 38132093›Full record

ArticleCells2023

Open-Label Sulforaphane Trial in FMR1 Premutation Carriers with Fragile-X-Associated Tremor and Ataxia Syndrome (FXTAS).

Ellery Santos, Courtney Clark, Hazel Maridith B Biag, Si Jie Tang, Kyoungmi Kim, Matthew D Ponzini, Andrea Schneider, Cecilia Giulivi, Federica Alice Maria Montanaro, Jesse Tran-Emilia Gipe and 9 more

Open access · goldAbstract read
In one paragraph

Article in Cells, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
3.4field-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.

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

10 citing papers in PubMed, 11 citations in OpenAlex.

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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

19 authors at 3 institutions in 2 countries.

Ellery SantosMedical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA.ORCID 0000-0001-6301-7262
Courtney ClarkDepartment of Pediatrics, School of Medicine, University of California, Davis, CA 95817, USA.
Hazel Maridith B BiagMedical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA.
Si Jie TangDepartment of Pediatrics, School of Medicine, University of California, Davis, CA 95817, USA.ORCID 0000-0001-5136-7353
Kyoungmi KimMedical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA.
Matthew D PonziniMedical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA.ORCID 0009-0001-7758-8688
Andrea SchneiderMedical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA.ORCID 0000-0002-4674-7244
Cecilia GiuliviMedical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA.ORCID 0000-0003-1033-7435
Federica Alice Maria MontanaroChild and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.ORCID 0000-0001-7293-2315
Jesse Tran-Emilia GipeDepartment of Molecular Biosciences, School of Veterinary Medicine, University of California, Davis, CA 95616, USA.
Jacquelyn DaytonDepartment of Molecular Biosciences, School of Veterinary Medicine, University of California, Davis, CA 95616, USA.
Jamie L RandolDepartment of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, CA 95616, USA.
Pamela J YaoLaboratory of Clinical Investigation, Intramural Research Program, National Institute on Aging, National Institutes of Health, Baltimore, MD 212241, USA.ORCID 0000-0003-1520-1617
Apostolos ManolopoulosLaboratory of Clinical Investigation, Intramural Research Program, National Institute on Aging, National Institutes of Health, Baltimore, MD 212241, USA.ORCID 0000-0003-1055-0324
Dimitrios KapogiannisLaboratory of Clinical Investigation, Intramural Research Program, National Institute on Aging, National Institutes of Health, Baltimore, MD 212241, USA.ORCID 0000-0003-2181-3118
Ye Hyun HwangDepartment of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, CA 95616, USA.
Paul HagermanMedical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA.
Randi HagermanMedical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA.ORCID 0000-0001-5029-8448
Flora TassoneMedical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA.ORCID 0000-0002-6388-9180
University of California, Davis · USNational Institutes of Health · USBambino Gesù Children's Hospital · IT

Funding

GENOTYPE/PHENOTYPE RELATIONSHIPS IN FRAGILE X FAMILIESR01HD036071 · NICHD · UNIVERSITY OF CALIFORNIA DAVIS · PI PAUL J HAGERMAN, RANDI J. HAGERMAN · 1998 to 2026
$13.8M
Research Project: Pathologic Significance of Maternal AutoantibodiesP50HD103526 · NICHD · UNIVERSITY OF CALIFORNIA AT DAVIS · PI JUDY A. VAN DE WATER · 2020 to 2026
$9.7M
Contributors to FXTAS ProgressionR21NS128751 · NINDS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI GIULIVI, CECILIA · 2022 to 2022
$439k
NICHD NIH HHS P50 HD103526NICHD NIH HHS R01 HD036071NINDS NIH HHS R21 NS128751
6 · The paper itself

Abstract

Fragile X (FMR1) premutation is a common mutation that affects about 1 in 200 females and 1 in 450 males and can lead to the development of fragile-X-associated tremor/ataxia syndrome (FXTAS). Although there is no targeted, proven treatment for FXTAS, research suggests that sulforaphane, an antioxidant present in cruciferous vegetables, can enhance mitochondrial function and maintain redox balance in the dermal fibroblasts of individuals with FXTAS, potentially leading to improved cognitive function. In a 24-week open-label trial involving 15 adults aged 60-88 with FXTAS, 11 participants successfully completed the study, demonstrating the safety and tolerability of sulforaphane. Clinical outcomes and biomarkers were measured to elucidate the effects of sulforaphane. While there were nominal improvements in multiple clinical measures, they were not significantly different after correction for multiple comparisons. PBMC energetic measures showed that the level of citrate synthase was higher after sulforaphane treatment, resulting in lower ATP production. The ratio of complex I to complex II showed positive correlations with the MoCA and BDS scores. Several mitochondrial biomarkers showed increased activity and quantity and were correlated with clinical improvements.

Indexed as

Leukocytes, MononuclearTremorAdultAtaxiaBiomarkersFemaleFragile X Messenger Ribonucleoprotein 1Fragile X SyndromeHumansIsothiocyanatesMaleSulfoxidesBiomarkersFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1IsothiocyanatessulforaphaneSulfoxidesFMR1FXTASneurodegenerationsulforaphane

Identifiers

PMID38132093
PMCPMC10741398
OpenAlexW4389334291

What OpenQuestion holds

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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.