sleep Archives • Fragile X Research - FRAXA Research Foundation

Aripiprazole (Abilify) in the Treatment of People with Fragile X: An Anecdotal Account

Caitlyn Dent, RN, BSN Research Updates July 29, 2020August 5, 2020Abilify, aripiprazole, autism, dopamine, drug repurposing, FDA, hypersensitivity, NIH, serotonin, sleep

The aim of this article is to discuss the use of Abilify (generic name: aripiprazole) as a treatment for people with Fragile X syndrome (FXS). As an “off-label” prescription, Abilify targets behaviors such as irritability, aggression, self-injury and severe tantrums.

Ketogenic Diet Eases Symptoms in Fragile X Male Mice

FRAXA Research Foundation Research Updates • University of Wisconsin • Westmark, Cara March 12, 2020March 12, 2020Alzheimer's, amyloid precursor protein, autism, EEG, metformin, NIH, seizure, sleep, sound

The Westmark laboratory continues to study sleep and rest-activity cycles in Fragile X mice as a potential outcome measure that correlates between preclinical and clinical research. The analysis of sleep EEG in the mice has proven more labor intensive than they anticipated, but the team is collaborating with Dr. Rama Maganti’s laboratory at UW-Madison on the development of computer scrips to speed up the analysis.

Fragile X Researcher, Cara Westmark, PhD

Meet Jack!

FRAXA Research Foundation #FriendofFRAXA November 21, 2019November 21, 2019sleep

Meet #FriendofFRAXA Jack! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.

Recruiting: Metformin Clinical Trial for Ages 16-50 with Fragile X Syndrome

FRAXA Research Foundation 2019 Grants • 2020 Grants • 2021 Grants • Clinical • Clinical Trials • Current Research Grants • McBride, Sean • Recruiting • Rowan University • University of Pennsylvania October 24, 2019March 22, 2021autism, FDA, fruit fly, metformin, sleep

FRAXA Research Foundation is funding a clinical trial of metformin for teens and adults with Fragile X syndrome. The trial is being conducted by Dr. Sean McBride at Rowan University in collaboration with colleagues at the University of Pennsylvania. Men and women ages 16-50 with Fragile X syndrome are invited to participate.

Screening 2,320 FDA-Approved Drugs for Potential Treatment of Fragile X

FRAXA Research Foundation 2018 Grants • 2019 Grants • 2020 Grants • 2021 Grants • Current Research Grants • Disease Mechanisms • Joyce, Karen • McBride, Sean • Rowan University • Treatment Targets January 9, 2019February 5, 2021autism, drug repurposing, FDA, fruit fly, lithium, metformin, mGluR, PDE4, sleep, Tetra Therapeutics

FRAXA Research Foundation has awarded a $90,000 grant to Principal Investigator Dr. Sean McBride and Postdoctoral Fellow Dr. Karen Joyce, at Rowan University, to screen all 2,320 FDA-approved drugs on both mouse and fly models of Fragile X syndrome. Those drugs which show promise will be tested in more detail for potential to treat Fragile X in humans.

Coffee, Tea, and Chocolate: Adenosine Receptors in Fragile X

FRAXA Research Foundation 2018 Grants • 2019 Grants • 2020 Grants • Borreca, Antonella • Current Research Grants • Disease Mechanisms • Italian National Institute of Health • Martire, Alberto • Treatment Targets December 11, 2018April 15, 2021AMPAkines, BDNF, cyclic AMP, drug tolerance, glutamate, mGluR5, mRNAs, NIH, sleep

Caffeine is the most popular smart drug in the world. With a $90,000 grant from FRAXA Research Foundation, Alberto Martire, PhD and Antonella Borreca, PhD in Rome, Italy are investigating adenosine receptors antagonists to treat Fragile X syndrome. Compounds which are able to block adenosine receptors are commonly found in tea, chocolate, and coffee.

Antonella Borreca, PhD, and Alberto Martire, PhD

Tetra Discovery Partners Initiates Phase 2 Trial of BPN14770 in Fragile X Syndrome

FRAXA Research Foundation Berry-Kravis, Elizabeth • Rush University Medical Center July 10, 2018January 14, 2019Alzheimer's, autism, BPN14770, FDA, NIH, PDE4, sleep, Tetra Therapeutics

This 2-Period Crossover Study of BPN14770 is accepting adults males with Fragile X syndrome at Rush University Medical Center in Chicago. Principal Investigator of the study is Elizabeth Berry-Kravis, MD, PhD.
A selective inhibitor of the phosphodiesterase type-4D (PDE4D), BPN14770 has shown the ability to improve the quality of connections between neurons and to improve multiple behavioral outcomes in the Fragile X mouse model.

Drug Repurposing Study Results Accelerate Progress Towards Fragile X Treatments

J. Dora Levin Drug Repurposing • Healx • Research Updates October 29, 2017July 11, 2018autism, drug repurposing, FRAXA-DVI, Healx, sleep

While there are over 8,000 rare diseases affecting an estimated 350 million people worldwide, only around 200 of these conditions have effective treatments. Due to the high cost of developing new drugs, rare diseases have historically been less attractive to pharmaceutical companies. Drug repurposing systematically leverages the detailed information available on approved drugs and reduces the time and money needed to deliver safe “new” treatments, but with greater success rates and a potentially more immediate impact on health care.

Healx team David, Dan, Narissa - FRAXA (1)

In Their Own Words: Reports From the International Fragile X Workshop

FRAXA Research Foundation Cogram, Patricia • Contractor, Anis • Events Recap • Kooy, Frank • Lee, Jeannie • McGill University • Moine, Herve • Razak, Khaleel • Research Updates • Smith, Carolyn B. • Sonenberg, Nahum • Todd, Peter • Vanderklish, Peter October 29, 2017December 26, 2019amygdala, autism, bumetanide, DgkK, drug repurposing, drug tolerance, EEG, ERK, FDA, Fragile X Meeting, GABA, ganaxolone, glutamate, hyperexcitability, hypersensitivity, metformin, mGluR5, minocycline, mRNAs, NIH, Rett syndrome, seizure, sleep, sound

The 18th International Fragile X and Related Neurodevelopmental Disorders Workshop in Quebec, Canada, was a great success, featuring Fragile X much more heavily than any previous meeting in this series! We asked our speakers to summarize their work in their own words, with brief updates from researchers investigating Fragile X.

18th International Fragile X and Related Neurodevelopmental Disorders Workshop, Quebec, Canada

Clinical Trial of Ganaxolone in Patients with Fragile X Syndrome

FRAXA Research Foundation 2014 Grants • 2015 Grants • Clinical • Clinical Trials • Dijck, Anke Van • Has Results • Kooy, Frank • Research Grant Results • Treatment Targets • University of Antwerp, Belgium September 2, 2017March 9, 2020drug tolerance, GABA, GABA-A, ganaxolone, glutamate, seizure, sleep

With a $90,000 grant from FRAXA Research Foundation funded during 2014-2015, Dr. Frank Kooy and colleagues at the University of Antwerp are conducting a double blind crossover trial of ganaxolone in patients with Fragile X syndrome. Results of this study were mixed (see Marinus: Results from Phase 2 Exploratory Clinical Study Support Continued Development of Ganaxolone in Fragile X Syndrome.)

Frank Kooy, PhD, at University of Antwerp

Neural Markers of Fragile X: A Powerful New Tool for Clinical Trials

J. Dora Levin Biomarkers • Boston Children's Hospital • Clinical • Harvard University • Nelson, Charles A. • Research Updates • Wilkinson, Carol August 17, 2017June 20, 2019Autifony Therapeutics, autism, EEG, hypersensitivity, ion channel, Pierce Family Fragile X Foundation, sleep, sound

Once the neural marker is identified for a particular challenge, such as kids with poor language versus good language, neural markers can be measured during drug and behavioral therapy trials to see if a child is improving based on objective biological measures.

Preclinical Testing of Sleep-Wake Patterns as an Outcome Measure for Fragile X

Theodore Coutilish 2016 Grants • 2017 Grants • 2018 Grants • Biomarkers • Completed Research Grants • Treatment Targets • University of Wisconsin • Westmark, Cara May 23, 2017May 17, 2020Alzheimer's, amyloid precursor protein, autism, drug repurposing, EEG, seizure, sleep, sound

FRAXA Research Foundation awarded $122,000 over 2016-2018 to Dr. Cara Westmark at the University of Wisconsin at Madison for studies of sleep disorders in Fragile X syndrome.

Metformin, Diabetes Drug, Potential Fragile X Treatment

Theodore Coutilish Drug Repurposing • McGill University • Research Updates • Sonenberg, Nahum May 18, 2017January 9, 2019autism, cancer, matrix metalloproteinase, metformin, MMP9, Roche, sleep

“We treated mice with metformin and corrected all the core Fragile X deficits. We are optimistic about using metformin in human clinical trials. This is a generic drug with few side effects” says Nahum Sonenberg, PhD, James McGill Professor, Department of Biochemistry, McGill Cancer Center, McGill University.

Nahum Sonenberg, PhD, 2017 Fragile X Research Grant

NIH Investigator Carolyn Beebe Smith, PhD, Looks to Improve Sleep in Fragile X Syndrome

Theodore Coutilish Research Updates • Smith, Carolyn B. November 17, 2016December 26, 2019Alzheimer's, autism, baclofen, FDA, lithium, NIH, sleep

Our sons with Fragile X Syndrome typically go to bed early and rise early. Sometimes they jump on us while we are sleeping at 3 a.m., excited to start their day. For heaven’s sake, why? The answer may come from Carolyn Beebe Smith, PhD, senior investigator, Section on Neuroadaptation and Protein Metabolism, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland. She is studying why children, in particularly boys, with FXS have problems sleeping.

Altered Sleep in Fragile X Syndrome: Basis for a Potential Therapeutic Target

FRAXA Research Foundation 2016 Grants • 2017 Grants • 2018 Grants • Biomarkers • Completed Research Grants • Disease Mechanisms • National Institute of Mental Health • Smith, Carolyn B. • Treatment Targets September 5, 2016May 14, 2020NIH, sleep

With a $90,000 grant from FRAXA Research Foundation over 2016-2018, Dr. Carolyn B. Smith and Dr. Rache Sare at the National Institute of Mental Health investigated the basis of sleep problems in Fragile X syndrome.

Fragile X Fruit Fly Research Bears Fruit

FRAXA Research Foundation Jongens, Tom • McBride, Sean • Research Updates April 26, 2016December 26, 2019autism, DOD, fruit fly, metformin, NIH, sleep

A new FRAXA-funded study shows how the hormone insulin – usually associated with diabetes — is involved in the daily activity patterns and learning deficits in the fruit fly model of Fragile X Syndrome (FXS). The study also reveal a metabolic pathway that can be targeted by new and already approved drugs to treat Fragile X patients, notably metformin.

Fragile X researchers Sean McBride, Tom Jongens

Fragile X Cure One Step Closer with FRAXA Support of $1 Million in New Research

Katie Clapp Research Updates April 26, 2016December 26, 2019CRISPR, hypersensitivity, NIH, NMDA, sleep

4 Countries – 10 Teams – $1 Million for finding new treatment targets, to pinpointing outcome measures for future clinical trials, to attempting to reactivate the gene which is silenced in Fragile X syndrome, these innovative scientists will bring us closer to a cure.

FRAXA funds 1 million in Fragile X research

GABA-A Receptor in Fragile X Syndrome

Katie Clapp 1994-2000 Grants • 2006-2010 Grants • Completed Research Grants • Disease Mechanisms • Kooy, Frank • University of Antwerp, Belgium October 19, 2014January 23, 2019GABA, GABA-A, sleep

With $210,000 in grants from FRAXA over 1999-2010, Dr. Frank Kooy has studied the involvement of the GABAergic system in Fragile X syndrome, at the University of Antwerp, Belgium.

Sleep and Circadian Rhythms in Fragile X Mutant Drosophila

FRAXA Research Foundation 2006-2010 Grants • Allada, Ravi • Completed Research Grants • Disease Mechanisms • Northwestern University February 14, 2008April 28, 2018fruit fly, sleep

With an $80,000 grant from FRAXA Research Foundation over 2 years, Dr. Ravi Allada and his team studied at Northwestern University sleep behaviors in Fragile X fruit flies. These fruit flies are useful for several important reasons; not only do they have a good cognitive phenotype, they also have a clear disturbance of circadian rhythms. This is an important model for human hyperactivity and sleep disorders, and this group studied the underlying mechanisms in an effort to find treatments for the human conditions.

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

Melatonin Clinical Trial in Fragile X

FRAXA Research Foundation 1994-2000 Grants • Disease Mechanisms • Hagerman, Randi • Has Results • Research Grant Results • Treatment Targets • University of California at Davis February 27, 2000March 9, 2020autism, melatonin, NIH, serotonin, sleep, sound

With a $60,000 grant from FRAXA Research Foundation from 1998-1999, Dr. Randi Hagerman and her team at the University of California studied the effects of different compounds on individuals with Fragile X syndrome, focusing specifically on melatonin. Results published.