National Institutes of Health (NIH) Archives • Page 5 of 6 • FRAXA Research Foundation

Elizabeth Berry-Kravis, MD, PhD, Fragile X researcher

Clinical Trials Outcome Measures

February 22, 2011

In Fragile X participants, low-dose lithium showed benefits and helped refine biomarkers and behavioral assessments.

Manipulating Basal and mGluR-Stimulated cAMP Level in FXS Model Mice

February 1, 2011

Fragile X mice show reduced basal cAMP and exaggerated mGluR-LTD; boosting cAMP or blocking specific adenylyl cyclases rescues synaptic and behavioral defects.

GABAergic Inhibitory Function in Fragile X Syndrome

February 1, 2011

Fragile X mice show weakened GABAergic inhibition in key brain regions like the amygdala. Enhancing GABA_A receptor activity reduced hyperactivity and improved inhibition.

Correcting Fragile X Syndrome by Inhibiting the Synaptic RNA-Binding Protein CPEB1

January 30, 2011

The Richter lab found that CPEB1 knockdown in Fmr1 KO mice normalized excessive protein synthesis and improved synaptic and memory problems tied to Fragile X.

The Slack Potassium Ion channel is a Therapeutic Target for Fragile X

January 7, 2011

With $282,000 in funding from FRAXA Research Foundation, Dr. Leonard Kaczmarek and colleagues explored association of Slack channels with the Fragile X protein (FMRP).

Pilot Clinical Trial of Lithium in Fragile X Shows Promising Results

November 14, 2010

With $65K from FRAXA, Dr. Berry-Kravis at Rush University ran a pilot lithium trial in 15 Fragile X patients. Results published.

Stephen Haggarty, PhD, Harvard/MIT, Principal Investigator, FRAXA research grant

Small Molecule Modulators of Lithium for Treatment of Fragile X Syndrome

February 1, 2010

With a $219,500 FRAXA grant, Dr. Stephen Haggarty at Harvard/MIT used patient-derived stem cells to screen drugs targeting GSK3, aiming to enhance lithium therapy.

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.

Drs. Oostra, Warren, and Nelson discovered the Fragile X gene and its FRAXA mutation in 1991.

Mouse Models of Fragile X Syndrome

February 5, 2009

With FRAXA support, Dr. Oostra’s team built the first Fragile X mouse model and published pivotal studies advancing the field.

3 Researchers Honored at FRAXA Investigators Meeting

October 4, 2008

FRAXA’s 2008 Investigators Meeting brought together 150+ researchers from around the world to collaborate and speed new Fragile X therapies.

Altered Cyclic AMP Signaling in Fragile X

March 20, 2008

FRAXA-funded research by Dr. Anita Bhattacharyya at the Waisman Center revealed key insights into cyclic AMP signaling in Fragile X. Findings were published.

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.

Randall Carpenter, MD, at Massachusetts Institute of Technology, FRAXA research grant

FRAXA Contributes $10,000 to NIH grant to Seaside Therapeutics

July 9, 2007

With support from FRAXA, Seaside Therapeutics developed STX107, an mGluR5 antagonist for Fragile X. Though development ended, it advanced key clinical insights.

Taurine and Somatostatin as Potential Treatments for Fragile X Syndrome: A Unifying Neuro-Endocrine Hypothesis

March 21, 2007

Dr. Abdeslem El Idrissi’s FRAXA-funded study tested somatostatin and taurine in Fragile X mice, revealing taurine’s promise as an accessible therapy.

Anna Francesconi, PhD, at Albert Einstein College of Medicine, FRAXA research grant

Regulation of Group I Metabotropic Glutamate Receptor Trafficking in Fragile X

February 6, 2007

With $83.5K from FRAXA, Dr. Anna Francesconi at Albert Einstein College studied receptor patterns and pathways linked to Fragile X.

Hypothalamic Pituitary Adrenal (HPA) Axis Dysregulation in Fragile X Syndrome

August 23, 2006

With $62K from FRAXA, Dr. Carolyn Smith studied the HPA stress axis in Fragile X mice, finding hormonal stress recovery unaffected. Results published.