Page last updated: 2024-10-20

taurine and Fragile X Syndrome

taurine has been researched along with Fragile X Syndrome in 11 studies

Fragile X Syndrome: A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)

Research Excerpts

ExcerptRelevanceReference
"Several off-label studies have shown that acamprosate can provide some clinical benefits in youth with Fragile X Syndrome (FXS), an autism spectrum disorder caused by loss of function of the highly conserved FMR1 gene."7.88Acamprosate rescues neuronal defects in the Drosophila model of Fragile X Syndrome. ( Bantel, AP; Hutson, RL; Tessier, CR; Thompson, RL, 2018)
"Plasma APP derivative levels pre- and post-treatment with acamprosate were determined in two pilot studies involving youth with idiopathic and fragile X syndrome (FXS)-associated ASD."7.80Impact of acamprosate on plasma amyloid-β precursor protein in youth: a pilot analysis in fragile X syndrome-associated and idiopathic autism spectrum disorder suggests a pharmacodynamic protein marker. ( Bowers, K; Erickson, CA; Lahiri, DK; Maloney, B; McDougle, CJ; Ray, B; Schaefer, TL; Sokol, DK; Wink, LK, 2014)
" We report on the first trial of acamprosate, a drug with putative mGluR5 antagonism, in three adults with FXS and autism."7.76Brief report: acamprosate in fragile X syndrome. ( Erickson, CA; McDougle, CJ; Mullett, JE, 2010)
"Acamprosate was generally safe and well tolerated and was associated with a significant improvement in social behavior and a reduction in inattention/hyperactivity."6.78Impact of acamprosate on behavior and brain-derived neurotrophic factor: an open-label study in youth with fragile X syndrome. ( Early, MC; Erickson, CA; Lahiri, DK; Mathieu-Frasier, L; McDougle, CJ; Patrick, V; Ray, B; Stiegelmeyer, E; Wink, LK, 2013)
"Several off-label studies have shown that acamprosate can provide some clinical benefits in youth with Fragile X Syndrome (FXS), an autism spectrum disorder caused by loss of function of the highly conserved FMR1 gene."3.88Acamprosate rescues neuronal defects in the Drosophila model of Fragile X Syndrome. ( Bantel, AP; Hutson, RL; Tessier, CR; Thompson, RL, 2018)
"Plasma APP derivative levels pre- and post-treatment with acamprosate were determined in two pilot studies involving youth with idiopathic and fragile X syndrome (FXS)-associated ASD."3.80Impact of acamprosate on plasma amyloid-β precursor protein in youth: a pilot analysis in fragile X syndrome-associated and idiopathic autism spectrum disorder suggests a pharmacodynamic protein marker. ( Bowers, K; Erickson, CA; Lahiri, DK; Maloney, B; McDougle, CJ; Ray, B; Schaefer, TL; Sokol, DK; Wink, LK, 2014)
" We report on the first trial of acamprosate, a drug with putative mGluR5 antagonism, in three adults with FXS and autism."3.76Brief report: acamprosate in fragile X syndrome. ( Erickson, CA; McDougle, CJ; Mullett, JE, 2010)
"Acamprosate was generally safe and well tolerated and was associated with a significant improvement in social behavior and a reduction in inattention/hyperactivity."2.78Impact of acamprosate on behavior and brain-derived neurotrophic factor: an open-label study in youth with fragile X syndrome. ( Early, MC; Erickson, CA; Lahiri, DK; Mathieu-Frasier, L; McDougle, CJ; Patrick, V; Ray, B; Stiegelmeyer, E; Wink, LK, 2013)
"Fragile X syndrome is an X-linked dominant disorder and the most common cause of inherited mental retardation."1.51Role of Taurine in Testicular Function in the Fragile x Mouse. ( El Idrissi, A; Lin, S, 2019)
"Fragile X Syndrome is the most common known genetic cause of autism."1.36Taurine regulation of short term synaptic plasticity in fragile X mice. ( El Idrissi, A; L'Amoreaux, W; Neuwirth, LS, 2010)
"Taurine treatment resulted in a significant increase in the number and size of islets."1.36Neuro-endocrine basis for altered plasma glucose homeostasis in the Fragile X mouse. ( El Idrissi, A; L'Amoreaux, W; Sidime, F; Yan, X, 2010)
"The Fragile X syndrome, a common form of mental retardation in humans, is caused by silencing the fragile X mental retardation (FMR1) gene leading to the absence of the encoded fragile X mental retardation protein 1 (FMRP)."1.31Alterations of amino acids and monoamine metabolism in male Fmr1 knockout mice: a putative animal model of the human fragile X mental retardation syndrome. ( Braun, K; Gruss, M, 2001)

Research

Studies (11)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (18.18)29.6817
2010's9 (81.82)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Lin, S1
El Idrissi, A5
Hutson, RL1
Thompson, RL1
Bantel, AP1
Tessier, CR1
Erickson, CA3
Wink, LK2
Ray, B2
Early, MC1
Stiegelmeyer, E1
Mathieu-Frasier, L1
Patrick, V1
Lahiri, DK2
McDougle, CJ3
Maloney, B1
Bowers, K1
Schaefer, TL1
Sokol, DK1
Hagerman, RJ1
Polussa, J1
Neuwirth, LS2
Volpe, NP1
Ng, S1
Marsillo, A1
Corwin, C1
Madan, N1
Ferraro, AM1
Boukarrou, L1
Dokin, C1
Brown, WT1
Mullett, JE1
L'Amoreaux, W2
Yan, X1
Sidime, F1
Gruss, M1
Braun, K1

Clinical Trials (1)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
Pilot Study of Acamprosate in Youth With Fragile X Syndrome[NCT01300923]Phase 214 participants (Actual)Interventional2010-08-31Completed
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Trial Outcomes

ADHD Rating Scale 4th Edition

The ADHD Rating Scale is an 18-item scale directly derived from DSM-IV criteria for Attention Deficit Hyperactivity Disorder. The ADHD Rating Scale-IV is completed by the parent and scored by a clinician. The scale consists of 2 subscales: inattention (9 items) and hyperactivity-impulsivity (9 items). If 3 or more items are skipped, the clinician should use extreme caution in interpreting the scale. The total score can range from 0 to 54, with a higher score indicating greater severity. (NCT01300923)
Timeframe: Week 10

Interventionunits on a scale (Mean)
Acamprosate Treatment Group16.7

Brain-derived Neurotrophic Factor (BDNF)

BDNF is a protein that supports the survival of existing neurons and growth and differentiation of new neurons and synapses. (NCT01300923)
Timeframe: Screen and Week 10

Interventionpg/mL (Mean)
Acamprosate Treatment Group1,007.6

Children's Yale-Brown Obsessive Compulsive Scale Modified for PDD

The Children's Yale-Brown Obsessive Compulsive Scales-Modified (CY-BOCS) is a 5-item, semi-structured clinician rating scale modified designed to rate the current severity of repetitive behavior in children and adolescents with PDD. Once the current repetitive behaviors are identified, they are separately rated on 5 items: Time Spent, Interference, Distress, Resistance, and Control. Each of these items is scored on a 5-point scale form 0 (least symptomatic) to 4 (most symptomatic). The CY-BOCS yields a Total Score from 0 to 20 and is sensitive to change. (NCT01300923)
Timeframe: Week 10

Interventionunits on a scale (Mean)
Acamprosate Treatment Group9.8

Clinical Global Impression- Severity Scale (CGI-S)

The Clinical Global Impression - Severity scale (CGI-S) is a 7-point scale that requires the clinician to rate the severity of the patient's illness at the time of assessment, relative to the clinician's past experience with patients who have the same diagnosis. Considering total clinical experience, a patient is assessed on severity of mental illness at the time of rating 1, normal, not at all ill; 2, borderline mentally ill; 3, mildly ill; 4, moderately ill; 5, markedly ill; 6, severely ill; or 7, extremely ill. (NCT01300923)
Timeframe: Week 10

Interventionunits on a scale (Mean)
Acamprosate Treatment Group7.0

Peabody Picture Vocabulary

The Peabody Picture Vocabulary Test is one of the most commonly used assessment tests that measure verbal ability in standard American English vocabulary. This test has been nationally standardized using examinees from various age groups, from children to adults. Thus, the raw scores are equated to mental age, using the norms obtained from standardization. The total standard scores range from 40 (worse receptive vocabulary) to 160 (better receptive vocabulary). The scores can also be converted to percentile rank. (NCT01300923)
Timeframe: Week 10

Interventionunits on a scale (Mean)
Acamprosate Treatment Group83.3

Social Responsiveness Scale

The 65-item SRS is a standardized measure of the core symptoms of autism. Each item is scored on a 4-point Likert scale. The score of each individual item is summed to create a total raw score. A total scores results are as follows: 0-62: Within normal limits 63-79: Mild range of impairment 80-108: Moderate range of impairment 109-149: Severe range of impairment (NCT01300923)
Timeframe: Week 10

Interventionunits on a scale (Mean)
Acamprosate Treatment Group76.4

The Aberrant Behavior Checklist (ABC)

The Aberrant Behavior Checklist (ABC) is a 58-item rating scale used to assess maladaptive behaviors across five original subscales: Irritability (15 items from 0-45), Social Withdrawal (16 items from 0-48), Stereotypy (7 items from 0-21), Hyperactivity (16 items from 0-48), Inappropriate Speech (4 items from 0-12). Additionally, Social Avoidance, a newly developed four-item subscale (from 0-12) of the ABC that captures core social avoidance aspects of Fragile X Syndrome is reported. All items on the ABC are rated from 0 (not at all a problem) to 3 (the problem is severe in degree). Higher scores indicate greater maladaptive behaviors. Differences between Baseline and Week 10 are used as an indicator of change. (NCT01300923)
Timeframe: Week 10

Interventionunits on a scale (Mean)
ABC IrritabilityABC Social WithdrawalABC StereotypyABC HyperactivityABC Inappropriate SpeechABC Social Avoidance
Acamprosate Treatment Group7.04.16.011.04.81.6

Vineland Adaptive Behavior Scales-II (VABS-II) Communication Domain

The VABS-II is a semi-structured interview designed to assess adaptive functioning in communication, daily living, socialization and motor skills. Recognizing that language is a major area of impairment in the study population, the Communication Domain (99 Items from 0-198), in particular the Expressive Subdomain (54 Items from 0-108) are of interest in this study. Items arranged in a developmental sequence are rated on a 3-point scale. Each item is scored from 0 (never performs the behavior) to 3 (usually performs the behavior independently). Higher scores indicate higher adaptive functioning. Differences between Baseline and Week 10 are used as an indicator of change. (NCT01300923)
Timeframe: Week 10

Interventionunits on a scale (Mean)
Communication DomainExpressive Communication
Acamprosate Treatment Group66.678.9

Reviews

1 review available for taurine and Fragile X Syndrome

ArticleYear
Treatment of the psychiatric problems associated with fragile X syndrome.
    Current opinion in psychiatry, 2015, Volume: 28, Issue:2

    Topics: Acamprosate; Adult; Animals; Child; Female; Fragile X Syndrome; Humans; Lovastatin; Male; Mice; Mino

2015

Trials

1 trial available for taurine and Fragile X Syndrome

ArticleYear
Impact of acamprosate on behavior and brain-derived neurotrophic factor: an open-label study in youth with fragile X syndrome.
    Psychopharmacology, 2013, Volume: 228, Issue:1

    Topics: Acamprosate; Adolescent; Biomarkers; Brain-Derived Neurotrophic Factor; Child; Dose-Response Relatio

2013

Other Studies

9 other studies available for taurine and Fragile X Syndrome

ArticleYear
Role of Taurine in Testicular Function in the Fragile x Mouse.
    Advances in experimental medicine and biology, 2019, Volume: 1155

    Topics: Animals; Cyclin-Dependent Kinase 5; Dietary Supplements; Disease Models, Animal; Fragile X Mental Re

2019
Acamprosate rescues neuronal defects in the Drosophila model of Fragile X Syndrome.
    Life sciences, 2018, Feb-15, Volume: 195

    Topics: Acamprosate; Animals; Animals, Genetically Modified; Behavior, Animal; Calbindins; Disease Models, A

2018
Impact of acamprosate on plasma amyloid-β precursor protein in youth: a pilot analysis in fragile X syndrome-associated and idiopathic autism spectrum disorder suggests a pharmacodynamic protein marker.
    Journal of psychiatric research, 2014, Volume: 59

    Topics: Acamprosate; Adolescent; Amyloid beta-Protein Precursor; Case-Control Studies; Child; Child Developm

2014
Taurine recovers mice emotional learning and memory disruptions associated with fragile x syndrome in context fear and auditory cued-conditioning.
    Advances in experimental medicine and biology, 2015, Volume: 803

    Topics: Acoustic Stimulation; Animals; Conditioning, Psychological; Cues; Emotional Intelligence; Emotions;

2015
Taurine improves congestive functions in a mouse model of fragile X syndrome.
    Advances in experimental medicine and biology, 2009, Volume: 643

    Topics: Animals; Avoidance Learning; Disease Models, Animal; Fragile X Syndrome; Mice; Taurine

2009
Brief report: acamprosate in fragile X syndrome.
    Journal of autism and developmental disorders, 2010, Volume: 40, Issue:11

    Topics: Acamprosate; Adolescent; Autistic Disorder; Communication; Comorbidity; Fragile X Syndrome; Humans;

2010
Taurine regulation of short term synaptic plasticity in fragile X mice.
    Journal of biomedical science, 2010, Aug-24, Volume: 17 Suppl 1

    Topics: Animals; Binding Sites; Disease Models, Animal; Electric Stimulation; Excitatory Postsynaptic Potent

2010
Neuro-endocrine basis for altered plasma glucose homeostasis in the Fragile X mouse.
    Journal of biomedical science, 2010, Aug-24, Volume: 17 Suppl 1

    Topics: Animals; Blood Glucose; Calcium Channels; Dietary Supplements; Disease Models, Animal; Fragile X Men

2010
Alterations of amino acids and monoamine metabolism in male Fmr1 knockout mice: a putative animal model of the human fragile X mental retardation syndrome.
    Neural plasticity, 2001, Volume: 8, Issue:4

    Topics: 3,4-Dihydroxyphenylacetic Acid; Aging; Alanine; Amino Acids; Animals; Aspartic Acid; Brain; Brain St

2001