Clinical Trials and Cyclic AMP in Fragile X Syndrome: A Life Journey

Clinical Trials and Cyclic AMP in Fragile X Syndrome: A Life Journey

In November 2020, a phase II clinical trial reported extremely successful results. This clinical trial of a PDE4D inhibitor from Tetra Pharmaceuticals was conducted by Dr. Elizabeth Berry-Kravis at Rush University Medical Center and funded by FRAXA Research Foundation. In this Simons Foundation lecture, Elizabeth Berry-Kravis traces 30 years of Fragile X research, from identifying its cause, through finding dozens of treatment targets, through a series of disappointing clinical trials.

Read more

Screening Combinatorial Pharmacological Therapies for Fragile X Syndrome

Screening Combinatorial Pharmacological Therapies for Fragile X Syndrome

FRAXA Research Foundation has awarded a $90,000 research grant to Stanford University principal investigators Dr. Philippe Jacques Mourrain and Dr. Gordon Wang, along with postdoctoral fellow, Dr. Rochelle Coulson. They are evaluating additive effects of combinatorial drug treatments to correct a broad spectrum of deficits observed in Fragile X syndrome.

Read more

Clinical Study of Non-Invasive EEG for Children Ages 2-7

Clinical Study of Non-Invasive EEG for Children Ages 2-7

Dr. Carol Wilkinson, MD PhD, and Dr. Charles Nelson, PhD, at Boston Children’s Hospital are recruiting children ages 2-7 years with Fragile X syndrome to participate in a study of brain differences using non-invasive EEG.

Read more

Educating Young Children with Fragile X Syndrome

Educating Young Children with Fragile X Syndrome

When a team of elementary school teachers and therapists asked us to share strategies for working with young children who have Fragile X syndrome, we developed this session featuring tips, techniques, and stories. Katie Clapp, co-founder of FRAXA Research Foundation and parent of a young man with Fragile X, and Tracy Antonelli, whose two teenage boys have Fragile X, present this session to help teachers assist their students.

Educating Young Children with Fragile XRead more

Parkinson’s Therapy May Hold Promise for Fragile X

Parkinson’s Therapy May Hold Promise for Fragile X

A study funded by FRAXA in Italy has encouraging results for people with Fragile X: drugs that block adenosine receptors (A2A) reversed signs of Fragile X in a mouse model.

“One of the most intriguing things about this study is that it points to an entire drug class (not just the one drug used) as potentially therapeutic for Fragile X. Many available compounds block A2A receptors, and we know they are safe and effective.

Read more

Beneath the Surface of Fragile X Syndrome: Study Sheds Light on What’s Happening in Nerve Cells

Beneath the Surface of Fragile X Syndrome: Study Sheds Light on What’s Happening in Nerve Cells

This FRAXA-funded project has turned up some surprising results. At first, it might seem Kurosaki and Maquat have found yet another cellular process which is malfunctioning in Fragile X. But this finding is intimately related to previous findings of abnormal protein synthesis and misregulated transcription in Fragile X. FMRP (the protein lacking in Fragile X syndrome) is involved in chaperoning messenger RNAs within cells to active sites, and in controlling their translation into many different proteins. Some of these proteins are transcription factors, which feed back to the nucleus to control gene expression.

Read more

Fragile X Research Funding of $1 Million Offered for 2021

Fragile X Research Funding of $1 Million Offered for 2021

FRAXA plans to fund $1 million for a generous number of Fragile X research grants and fellowships in 2021. Our mission is to find specific treatments and ultimately a cure for Fragile X syndrome. We aim to bring practical treatment into current medical practice as quickly as possible; we prioritize projects that have a clear practical application and the results of which will be shared in a timely fashion.

FRAXA Grant ApplicationsRead more

Integrating Human and Mouse Studies in Fragile X Syndrome – an NIH Center Approach

Integrating Human and Mouse Studies in Fragile X Syndrome – an NIH Center Approach

Presentations by:
Craig Erickson – Translational medicine and mechanistic studies of brain neurophysiology in Fragile X Syndrome: A NIH Center Overview
Ernest Pedapati – Network Mechanisms, Biomarkers, and Pharmacology of Fragile X Syndrome in Humans
Devin Binder – Network Mechanisms of Neurophysiology and Behavior in mouse models of Fragile X Syndrome
Kimberly Huber – FMRP Regulation of local and long-range neocortical circuits in the mouse: Links with EEG phenotypes

Read more

Towards Understanding the Role of FMRP in Human Brain Development Using Brain Organoids

Towards Understanding the Role of FMRP in Human Brain Development Using Brain Organoids

Dr. Zhexing Wen and Dr. Peng Jin of the newly funded Fragile X Center of Excellence at Emory University School of Medicine join us in this seminar to present about Understanding the Role of FMRP in Human Brain Development Using Brain Organoids.

Read more

Department of Defense Medical Research Funding Guided by FRAXA Consumer Reviewers

Department of Defense Medical Research Funding Guided by FRAXA Consumer Reviewers

FRAXA nominated three individuals to join in the program this year. Over the past several weeks, Katie Clapp, Ellen Skala, and Jennifer Frobish participated in the evaluation of research applications submitted to the PRMRP. As consumer reviewers, they were full voting members (along with prominent scientists) at meetings to help determine how the $360 million appropriated by Congress for Fiscal Year 2020 will be spent on PRMRP research.

Read more

Positive Results Reported in Phase II Fragile X Clinical Trial of PDE4D Inhibitor from Tetra Therapeutics

Positive Results Reported in Phase II Fragile X Clinical Trial of PDE4D Inhibitor from Tetra Therapeutics

Today, Tetra Therapeutics announces the first unequivocally positive phase 2 clinical trial in Fragile X syndrome, press release below. The results do not depend on carving out a subset of patients or post hoc analysis.

Read more

Overcoming the Placebo Effect in Fragile X Clinical Trials

Overcoming the Placebo Effect in Fragile X Clinical Trials

In a placebo-controlled clinical trial, some participants are given an experimental medication, while others are given a placebo. Participants do not know whether they are taking medicine or placebo. In theory, this can allow researchers to rule out the placebo effect by comparing outcomes among the two groups. But, per Wexler (2020) “having a strong placebo effect can obscure any real effect of the therapy being investigated”.

Read more

Centers for Collaborative Research in Fragile X Receive $25 Million Over Next 5 Years

Centers for Collaborative Research in Fragile X Receive $25 Million Over Next 5 Years

National Institutes of Health (NIH) has announced funding for three Centers for Collaborative Research in Fragile X. The centers will receive $25 million over the next 5 years. Funding for the centers comes from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institute of Mental Health (NIMH), and the National Institute of Neurological Disorders and Stroke (NINDS).

Read more
Copy link