Evidence map›Paper›PMID 19117905›Full record

ReviewPediatrics2009

Advances in the treatment of fragile X syndrome.

Randi J Hagerman, Elizabeth Berry-Kravis, Walter E Kaufmann, Michele Y Ono, Nicole Tartaglia, Ave Lachiewicz, Rebecca Kronk, Carol Delahunty, David Hessl, Jeannie Visootsak and 3 more

Registry-linked trialOpen access · greenAbstract readReview
In one paragraph

Review in Pediatrics, 2009. 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 298 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
298citing papers in PubMed, 3 pooled it
31.5field-weighted citation impact, top 1% 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.

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

298 citing papers in PubMed, 3 syntheses or guidelines pooled it, 600 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. L-acetylcarnitine for treating fragile X syndrome.The Cochrane database of systematic reviews · 2015
    Pooled it
  4. Trial
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  12. bioRxiv : the preprint server for biology · 2026
    Article
  13. Review
  14. Article
  15. Article
  16. Article
  17. Review
  18. Article
  19. Article
  20. Article

238 more citing papers are in PubMed but not listed here.

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

13 authors at 12 institutions in 2 countries.

Randi J HagermanMIND. Institute, University of California Davis, School of Medicine, Sacramento, CA 95817, USA. randi.hagerman@ucdmc.ucdavis.edu
Elizabeth Berry-Kravis
Walter E Kaufmann
Michele Y Ono
Nicole Tartaglia
Ave Lachiewicz
Rebecca Kronk
Carol Delahunty
David Hessl
Jeannie Visootsak
Jonathan Picker
Louise Gane
Michael Tranfaglia
Michigan Institute for Neurological Disorders · USAkron Children's Hospital · USBoston Children's Hospital · USDuke Medical Center · USEmory University · USFraxa Research Foundation · USInternational Mental Health Research Organization · USKennedy Krieger Institute · USRush University Medical Center · USUniversity of California, Davis · USUniversity of Colorado Health · USUniversity of Pittsburgh · US

Funding

Restoring FMRP Phenotypes Frpm Temporal Regional and Splice- Isoforms VarationsP30HD002274 · NICHD · UNIVERSITY OF WASHINGTON · PI GURALNICK, MICHAEL J · 1985 to 2013
$33.6M
UC DAVIS CLINICAL AND TRANSLATIONAL SCIENCE CENTER: BPCAUL1RR024146 · NCRR · UNIVERSITY OF CALIFORNIA AT DAVIS · PI BERGLUND, LARS F · 2006 to 2011
$27.0M
Atlanta Clinical and Translational Science Institute (ACTSI) RenewalUL1TR000454 · NCATS · EMORY UNIVERSITY · PI STEPHENS, DAVID S · 2012 to 2016
$25.8M
NICHD MENTAL RETARDATION RESEARCH CENTER CORE GRANTP30HD024061 · NICHD · KENNEDY KRIEGER CHILDRENS HOSPITAL · PI VALLE, DAVID · 1988 to 2013
$15.8M
GENOTYPE/PHENOTYPE RELATIONSHIPS IN FRAGILE X FAMILIESR01HD036071 · NICHD · UNIVERSITY OF CALIFORNIA DAVIS · PI PAUL J HAGERMAN, RANDI J. HAGERMAN · 1998 to 2026
$13.8M
Characterization and Treatment of CNS Abnormalities in Premutation Carriers (4 ofRL1AG032115 · NIA · UNIVERSITY OF CALIFORNIA AT DAVIS · PI HAGERMAN, RANDI J. · 2007 to 2011
$5.8M
Mentored Clinical Research Scholar ProgramK12RR017643 · NCRR · EMORY UNIVERSITY · PI BLUMBERG, HENRY M · 2002 to 2006
$5.1M
Neuro Therapeutics Research Institute (1 of 6)UL1DE019583 · NIDCR · UNIVERSITY OF CALIFORNIA AT DAVIS · PI HAGERMAN, PAUL J · 2008 to 2011
$3.0M
Atlanta Clinical and Translational Science Institute (ACTSI) RenewalKL2TR000455 · NCATS · EMORY UNIVERSITY · PI STEPHENS, DAVID S · 2012 to 2016
$2.9M
Atlanta Clinical and Translational Science Institute (KL2)KL2RR025009 · NCRR · EMORY UNIVERSITY · PI STEPHENS, DAVID S · 2007 to 2011
$2.9M
POPULATION-BASED BIRTH DEFECTS SURVEILLANCE AND UTILAZATION OF SURVEILLANCE DATA U50DD000596 · DD · COLORADO STATE DEPT/PUB HLTH & ENVIRONMT · PI RUTTENBER, MARGARET · 2010 to 2015
$1.1M
Genetics and Physiology of Social Anxiety in Fragile XK23MH077554 · NIMH · UNIVERSITY OF CALIFORNIA DAVIS · PI HESSL, DAVID R · 2005 to 2009
$772k
NCATS NIH HHS KL2 TR000455NCATS NIH HHS UL1 TR000454NCBDD CDC HHS U50 DD000596NCRR NIH HHS 1KL2RR025009NCRR NIH HHS 5K12RR017643NCRR NIH HHS K12 RR017643NCRR NIH HHS KL2 RR025009NCRR NIH HHS RR024146NCRR NIH HHS UL1 RR024146NIA NIH HHS AG032115NIA NIH HHS RL1 AG032115NICHD NIH HHS HD02274NICHD NIH HHS HD036071NICHD NIH HHS HD24061NICHD NIH HHS K23 HD058043NICHD NIH HHS P30 HD002274NICHD NIH HHS P30 HD024061NICHD NIH HHS R01 HD036071NIDCR NIH HHS DE019583NIDCR NIH HHS UL1 DE019583NIMH NIH HHS K23 MH077554NIMH NIH HHS MH77554
6 · The paper itself

Abstract

The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-deficit/hyperactivity disorder, autism, and other socioemotional problems, in individuals with the full mutation form (fragile X syndrome) and distinct difficulties, including primary ovarian insufficiency, neuropathy and the fragile X-associated tremor/ataxia syndrome, in some older premutation carriers. Therefore, multigenerational family involvement is commonly encountered when a proband is identified with a FMR1 mutation. Studies of metabotropic glutamate receptor 5 pathway antagonists in animal models of fragile X syndrome have demonstrated benefits in reducing seizures, improving behavior, and enhancing cognition. Trials of metabotropic glutamate receptor 5 antagonists are beginning with individuals with fragile X syndrome. Targeted treatments, medical and behavioral interventions, genetic counseling, and family supports are reviewed here.

Indexed as

AnimalsExcitatory Amino Acid AntagonistsFragile X SyndromeGenetic TherapyHumansMutationExcitatory Amino Acid Antagonists

Identifiers

PMID19117905
PMCPMC2888470
OpenAlexW2166329705

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

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.