Tetra Announces $40M to Advance BPN14770 for FXS and Alzheimer’s Disease

Tetra Discovery Partners has signed a multi-part deal that could bring it up to $160 million, plus royalties, from Shionogi & Co, Ltd, a Japanese major research-driven pharmaceutical company. Tetra currently is conducting an investigational Phase 2 study of BPN14770 in adults with Fragile X Syndrome, an indication for which BPN14770 has received Orphan Drug Designation from the US Food and Drug Administration. This clinical trial was made possible by early work with the FRAXA-DVI and over $200,000 from FRAXA.

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Meet Charlie!

Meet #FriendofFRAXA Charlie! 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.

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2018 Hope for the Holidays

Hope for the Holidays Gala Helps Advance Fragile X Research

On December 8, 2018, a sold-out crowd of 250 people gathered for the 3rd Annual Hope for the Holidays Gala at the Café Escadrille in Burlington, MA, to raise funds for Fragile X research. For the third year in a row, the Pierces presented a check for $100,000 to FRAXA Research Foundation. We are truly grateful for this ongoing, generous support of our mission to find effective treatments and ultimately a cure for Fragile X.

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Boys Basketball Fundraiser Kicks Off The Season of Giving

On Saturday morning, November 17, 60 boys, their parents and a bunch of volunteers gathered in Newton, MA for the 3rd annual 3 on 3 basketball tournament, sponsored by the Newton Athletic Association (NAA), a program of Newton Community Education. The event is a fun competition of teams of three players competing for bragging rights of which team is king of the local youth basketball program.

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Emily #FriendofFRAXA

Meet Emily!

Meet #FriendofFRAXA Emily! 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.

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Finding Fragile X Biomarkers – From Transcriptomics to Behavior in Patients

With this $20,000 award from FRAXA Research Foundation, Dr. Vanderklish and collaborators at Scripps Research Institute, the University of Chile, and the FLENI Institute in Argentina are analyzing patterns in gene expression in blood cells of patients with Fragile X syndrome. They are using “transcriptomics” which can produce a time-sensitive signature of an individual person. This is the first time that all these different levels of study – from transcriptomics to behavior – have been done for individual patients with Fragile X.

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Research Points to Drugs which Inhibit PDE to Treat Fragile X

FRAXA Research Foundation funded a grant of $90,000 over 2016-2018, for a postdoctoral fellowship for Thomas Maurin, PhD, working under the mentorship of Dr. Barbara Bardoni at INSERM in France. The team works on the biochemistry of the Fragile X protein. They have found that PDE inhibitors (a class of drugs) show promise as treatments for Fragile X syndrome. In related research, FRAXA is currently funding a clinical trial of PDE4D inhibitors.

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David and Cecil Rosenthal Fragile X Brothers killed at Pittsburgh synagogue massacre

Fragile X Brothers Two of the Pittsburgh Synagogue Massacre Victims

Our hearts are broken for everyone affected by the horrible tragedy at the Tree of Life synagogue in Pittsburgh. This one hits very close to home as two of the victims, the Rosenthal brothers, Cecil and David had Fragile X syndrome.

“Cecil’s laugh was infectious,” said Chris Schopf, Achieva’s vice president of residential supports. He added, “David was so kind and had such a gentle spirit. Together, they looked out for one another. They were inseparable. Most of all, they were kind, good people with a strong faith and respect for everyone around.”

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Andy #FriendofFRAXA

Meet Andy!

Meet #FriendofFRAXA Andy! 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.

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Brett Soars To Eagle

Over the years, Brett saw a lot of the older boys becoming Eagle Scouts and decided he wanted to get his Eagle Rank, too. Carl explained the process and Brett said, “Let’s do it”. Everything wasn’t smooth sailing and Brett encountered some obstacles. After Brett decided that he wanted to continue in scouting and get his Eagle Rank, the highest rank the Boy Scouts can achieve, we realized that there were some required merit badges that Brett would never be able to get because some of the requirements were just too difficult for him. The cool thing was that Boy Scouts offered an alternative path for special needs scouts.

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14th Annual Fragile X Poker Run Raises $12,135 for Fragile X Research!

The 14th Annual Fragile X Poker Run was a resounding success. The previous fundraising record of $7,800 was eclipsed by >50%, coming in at $12,135!! This year a very special and moving moment occurred when Amber, who has cerebral palsy, was brought by her parents and positioned in front of the band. She was then serenaded by Mikey through many songs, culminating in Happy Birthday (her 20th). Not a dry eye in the crowd, including Amber and Mikey. Simply magical.

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Andreas Frick and Kamila Castro

Non-Invasive Imaging as a Biomarker for Fragile X Clinical Trials

FRAXA Research Foundation has renewed Kamila Castro’s 2017 FRAXA Fellowship for a second year. With this $90,000 award, Kamila Castro and Principal Investigator Dr. Andreas Frick are using non-invasive magnetic resonance imaging (MRI) methodology to assess connectivity changes in the brain in Fragile X. If this project is successful, we will have objective outcome measures to evaluate new treatments, both in mice bred to mimic Fragile X and in human patients.

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Mega Green Tea Extract to Treat Fragile X?

Green tea is thought to have many benefits, particularly in cognitive function. In 2012-14, FRAXA Research Foundation funded a clinical trial to assess the effects of EGCG (green tea extract) on cognitive function in adults with FXS. Drs. Rafael de la Torre and Mara Dierssen Sotos, principal researchers in Barcelona, Spain, reported memory, attention, and mental flexibility improvements.

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Human Neurons

Retinoic Acid Signaling is Blocked by Fragile X Mutation

With a 2013-2014 FRAXA Research Grant, Principal Investigator Marius Wernig, PhD and FRAXA Fellow Samuele Marro, PhD at Stanford University found that the Fragile X mutation impairs homeostatic plasticity in human neurons, by blocking synaptic retinoic acid signaling. Retinoic acid is a metabolite of Vitamin A. The system they have developed could provide a powerful new cellular biomarker for screening many treatment approaches.

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