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Clinical Trials FAQ ← Frequently Asked Questions

January 11, 2013

Wondering which Fragile X trial is right? Eligibility varies, so most families qualify for just one. Talk with your closest clinic to find the best fit.

Reward Function in Fragile X Syndrome

September 2, 2012

Loss of FMRP disrupts dopamine-driven reward function—Fragile X mice show impaired cocaine sensitization and place preference, revealing new plasticity defects.

Inherited Channelopathies in Cortical Circuits of Fmr1 KO Mice

August 22, 2012

Researchers found that Fragile X brain circuits show faulty ion channel activity (channelopathies). Fixing these channels may restore normal brain signalling.

Altered Dendritic Synthesis of Postsynaptic Scaffold Protein Shank1 in Fragile X Syndrome

April 30, 2011

Loss of FMRP leads to excess synthesis of the scaffold protein Shank1 at dendrites. Elevated Shank1 may impair synaptic pruning and drive Fragile X spine pathology.

Aberrant Behavior Checklist in Fragile X Syndrome

February 1, 2010

With a $10,000 FRAXA grant, Dr. David Hessl at UC Davis analyzed the Aberrant Behavior Checklist as a key outcome measure for Fragile X. Results were published.

Iryna Ethell, PhD, at University of California

Role of Matrix Metalloproteinases (MMP-9) in Fragile X

February 2, 2009

With a $220,000 FRAXA grant, Dr. Iryna Ethell’s team at UC Riverside uncovered MMP-9’s role in Fragile X—leading to a major treatment strategy using minocycline.

Thomas Dockendorff, PhD, of University of Tennessee, FRAXA research grant

Novel Functions of Drosophila FMRP

February 2, 2009

Backed by a $120,000 FRAXA grant, Dr. Thomas Dockendorff’s University of Tennessee team explored Fragile X protein function through fly genetics.

Wen-Biao Gan, PhD, of New York University, FRAXA research grant

In Vivo Imaging of Synaptic Abnormalities in a Mouse Model of Fragile X Syndrome

February 14, 2008

FRAXA-funded research by Dr. Wen-Biao Gan at NYU visualized brain plasticity in Fragile X mice, revealing when neural connections form or go awry.

Ravi Allada, MD, at Northwestern University, FRAXA research grant

Sleep and Circadian Rhythms in Fragile X Mutant Drosophila

February 14, 2008

With FRAXA funding, Dr. Ravi Allada’s team at Northwestern University studied Fragile X fruit flies to uncover causes of sleep and activity disturbances.

Craig Erickson, MD, at Indiana University School of Medicine, FRAXA research grant

Clinical Trial of Aripiprazol in Fragile X Syndrome

September 1, 2007

With FRAXA funding, Dr. Craig Erickson tested aripiprazole (Abilify) in Fragile X. Ten of 12 participants improved—promising results that were published.

Jay Gibson, PhD, at University of Texas at Southwestern, FRAXA research grant

Decreased Excitatory Drive onto Parvalbumin-Positive Neocortical Inhibitory Neurons in a Mouse Model of Fragile X Syndrome

February 6, 2007

Drs. Jay Gibson and Kimberly Huber used FRAXA funding to uncover whether disrupted brain inhibition drives Fragile X, paving the way for targeted therapies.

Electrophysiological, Biochemical and Immunohistochemical Characterization of Kv3.1 in Auditory Brainstem Nuclei in the Fragile X Knockout Mouse

January 9, 2007

Dr. Leonard Kaczmarek’s Yale lab revealed how Fragile X disrupts potassium channels, impairing auditory processing and fueling sensory overload.

Social Deficits in Fragile X Syndrome: Do Gene-Gene Interactions Play a Role?

February 13, 2006

FRAXA’s $100K grant supported Drs. Jean Lauder and Sheryl Moy at UNC in exploring gene–gene interactions in Fragile X.

Catherine Choi, Drexel University, FRAXA research grant

Pharmacologic Interventions in the Fmr1 KO Mouse

February 13, 2006

With $48.6K from FRAXA, Dr. Catherine Choi at Drexel studied Fragile X knockout mice to identify potential treatment targets.

Fruit Fly Helps Reveal the Secrets of Fragile X

February 26, 2004

FRAXA’s $50K grant supported Dr. Bassem Hassan’s Flanders team in using fruit flies to model Fragile X and guide future therapy studies.

Jay Brenman, PhD, at University of North Carolina, FRAXA research grant

Dendritic Spine Formation and Fragile X

February 27, 2003

With $35K from FRAXA, Dr. Jay Brenman at UNC used fruit fly models to study Fragile X and uncover key disease mechanisms.

Startle Modulation in Males with Fragile X Syndrome

February 27, 2001

FRAXA’s $42,720 grant helped Dr. Elisabeth Dykens uncover startle and PPI effects in Fragile X males. Results were published.

Mina Johnson-Glenberg, PhD, at University of Wisconsin, FRAXA research grant

Neural Network Model of Working Memory in Fragile X Syndrome

February 27, 2000

FRAXA-funded Dr. Johnson-Glenberg explored how Fragile X impacts memory and learning, offering insight into cognitive challenges.

Melatonin Clinical Trial in Fragile X

February 27, 2000

FRAXA-funded Dr. Hagerman’s UC team explored melatonin’s effects in Fragile X, advancing understanding of treatment options. Results published.

Psychophysiological Measures of Arousal: Documentation of Treatment Effects & Impact of Disability

January 14, 1999

With $60K from FRAXA, Dr. Don Bailey’s UNC team studied how arousal affects individuals with Fragile X, deepening understanding of behavior.

Improving Memory Reversal Testing and Treatment with AMPAkines in the Fragile X Knock-Out Mouse

June 27, 1998

FRAXA-funded Dr. W. Ted Brown studied learning deficits in Fragile X mice and tested Ampakine drugs for potential treatment.

Clinical Trials FAQ ← Frequently Asked Questions

Reward Function in Fragile X Syndrome

Inherited Channelopathies in Cortical Circuits of Fmr1 KO Mice

Altered Dendritic Synthesis of Postsynaptic Scaffold Protein Shank1 in Fragile X Syndrome

Aberrant Behavior Checklist in Fragile X Syndrome

Role of Matrix Metalloproteinases (MMP-9) in Fragile X

Novel Functions of Drosophila FMRP

In Vivo Imaging of Synaptic Abnormalities in a Mouse Model of Fragile X Syndrome

Sleep and Circadian Rhythms in Fragile X Mutant Drosophila

Clinical Trial of Aripiprazol in Fragile X Syndrome

Decreased Excitatory Drive onto Parvalbumin-Positive Neocortical Inhibitory Neurons in a Mouse Model of Fragile X Syndrome

Electrophysiological, Biochemical and Immunohistochemical Characterization of Kv3.1 in Auditory Brainstem Nuclei in the Fragile X Knockout Mouse

Social Deficits in Fragile X Syndrome: Do Gene-Gene Interactions Play a Role?

Pharmacologic Interventions in the Fmr1 KO Mouse

Fruit Fly Helps Reveal the Secrets of Fragile X

Dendritic Spine Formation and Fragile X

Startle Modulation in Males with Fragile X Syndrome

Neural Network Model of Working Memory in Fragile X Syndrome

Melatonin Clinical Trial in Fragile X

Psychophysiological Measures of Arousal: Documentation of Treatment Effects & Impact of Disability

Improving Memory Reversal Testing and Treatment with AMPAkines in the Fragile X Knock-Out Mouse

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