Evidence map›Paper›PMID 40299377›Full record

ReviewBiomedicines2025

From Discovery to Innovative Translational Approaches in 80 Years of Fragile X Syndrome Research.

Mathijs B van der Lei, R Frank Kooy

Registry-linked trialAbstract readReview
In one paragraph

Review in Biomedicines, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07654114 (Evaluation of the Safety, Tolerability, and Effectiveness of CTH120 in Adult Males With Fragile X Syndrome), which is not on this map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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.

NCT07654114 phase2recruitingnot on this mapstarted 2026, after this paper: background citation

Evaluation of the Safety, Tolerability, and Effectiveness of CTH120 in Adult Males With Fragile X Syndrome

TypeinterventionalSponsorConnecta Therapeutics, S.L.Ran2026 to 2027Enrolled30ConditionsFragile X Syndrome (FXS), Fragile X SyndromeArmsCTH120, CTH120 placebo hard capsules
3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Trial
  2. Review
  3. 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

2 authors.

Mathijs B van der LeiCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, 2650 Edegem, Belgium.ORCID 0000-0003-3605-7853
R Frank KooyCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, 2650 Edegem, Belgium.ORCID 0000-0003-2024-0485

Funding

Fraxa Research FoundationUniversity of Antwerp
6 · The paper itself

Abstract

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and a major genetic contributor to autism spectrum disorder. It is caused by a CGG trinucleotide repeat expansion in the

Indexed as

fragile X messenger ribonucleoprotein 1 (FMR1)fragile X messenger ribonucleoprotein (FMRP)fragile X syndrome (FXS)trinucleotide repeat expansion (CGG repeat)

Identifiers

PMID40299377
PMCPMC12024745

What OpenQuestion holds

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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.