Research Blogs

 

Fundamental – aka “basic” – Science on Rett syndrome and MeCP2: a 2018 update

Authors: James Eubanks, Alysson Muotri, and Lucas Pozzo-Miller

 

Understanding the Scout Program

Authors: Steven Kaminsky, Ph.D.  and Janice Ascano, Ph.D.  May 2018

 

Phase 2 IGF-1 Results Summary

Trial results for the Phase 2 IGF-1 clinical trial have been published. Walter Kaufmann, MD, scientific advisor and principal investigator, of the Phase 1 and Phase 2 clinical trials of IGF-1 in Rett syndrome has provided us with highlights of the Phase 2 study’s results.

 

Rett Syndrome Gene Therapy:  Understanding the Published Data

Steve Kaminsky, PhD, Chief Science Officer Rettsyndrome.org and Janice Ascano, PhD, Manager of Grants and Research, Rettsyndrome.org,  July, 2017

Understanding the status of gene therapy research for Rett syndrome and our review of the five published papers on gene therapy.

 

Neuro-Habilitation Research - Building programs to maximize abilities

Steve Kaminsky, PhD, Chief Science Officer Rettsyndrome.org, June, 2017

What is the Neuro-Habilitation Program? What is Neuro-Habilitation Research? Why we are targeting Neuro-Habilitation research? Who is driving the projects?

 

The challenges of assessing cognitive function in children with Rett Syndrome 

Charles A. Nelson & Lauren Baczewski

Participating in standard cognitive testing can be challenging for those with Rett Syndrome (RTT) due to the disorder’s impact on language and motor skills. Our goal is to minimize verbal and motor requirements to obtain a more objective reading of the child’s cognitive ability by adapting the assessment to be administered on an eye tracking computer.  In doing so, we rely on the child’s ability to engage in coordinated eye movements to illustrate their answer to each question.

 

Research Strategy Blog- What is “Full-Spectrum Research”?

Steve Kaminsky, PhD, Chief Science Officer Rettsyndrome.org, April, 2017

What is ‘full spectrum’ research and how does it differentiate Rettsyndrome.org? It is identifying the best genetic and pharmacologic research to correct the biology of the brain’s neurons, while also studying how to reset the neurology - the neural pathway development- through physical, occupational, speech and cognitive therapies.

 

An update from our Chief Science Officer

Steve Kaminsky, PhD, Chief Science Officer Rettsyndrome.org February 5, 2016

As we begin 2016 our research strategy remains consistent – to cover the full spectrum of Rett syndrome research from basic discovery, where ideas begin, to translating discoveries into medicines for future clinical testing and treatments.

 

Power of data collected from the Natural History Study 

Steve Kaminsky, Chief Science Officer, Rettsyndrome.org  October, 2016

A short synopsis of the origins of the Rett syndrome Natural History Study and the importance of it today as we move forward into more clinical trials.

A Case Study of Rettsyndrome.org's Scout Program

Steve Kaminsky, Chief Science Officer, Rettsyndrome.org  October, 2016

A case study of the successful partnership between our organization and a biopharmaceutical company (Anavex Life Sciences Corp.) to identify potential new treatments for Rett syndrome and to serve as an example of how a non-profit organization can encourage the pharmaceutical industry to test compounds and drugs. 

 

Trofinetide for Rett Syndrome in Recent News

Public release: June 22, 2015

A novel agent is holding out some much-needed promise for girls and women with Rett syndrome.

 

Accelerating Research: "We are in the Time of Rett"

Steve Kaminsky, PhD, Chief Science Officer Rettsyndrome.org

Today, we want to share HOW committed we are to the work scientists and clinicians are doing to find treatments and a cure for Rett syndrome.

 

Expansion of the Rett syndrome pediatric trial with trofinetide (Neuren Pharmaceuticals)

August 25, 2016

The current multi-site pediatric clinical trial studying trofinetide has an enrollment rate that is running ahead of schedule, and to date, no safety or tolerability signals have been identified in this blinded trial.

 

14th Rett Syndrome Research Symposium Outcomes

July 18, 2016

Rettsyndrome.org is pleased to announce we undoubtedly had another successful research symposium to encourage communication and collaboration within the Rett researcher community.

Help Preserve Defense Research Dollars

June 3, 2016

Rettsyndrome.org is asking you to contact your Senator to ask her/him to help preserve DoD funding that may be used for research to aid our girls and our soldiers.

 

Anavex 2-73 Receives the FDA's Orphan Drug Designation (ODD)

May 20, 2016

We recently told you about positive research results stemming from our collaboration with Anavex in the Rettsyndrome.org Scout Program.  We are now even more pleased to share the news that Anavex announced that their compound Anavex 2-73 has received the FDA’s Orphan Drug Designation (ODD).

 

Newron Pharmaceutical Announces Progress with Sarizotan

May 18, 2016

Newron Pharmaceutical just announced that their Investigational New Drug (IND) application for sarizotan has been approved.  Sarizotan is a novel compound for Rett syndrome, which had already been granted an Orphan Drug Designation.

 

Positive Data Released by Anavex Life Science Corps

February 25, 2016

Today Anavex Life Science Corps, a clinical-stage biopharmaceutical company and partner in Rettsyndrome.org’s Scout Program, just announced positive data of ANAVEX 2-73 in the Rett syndrome mouse model.

 

Foundation for the NIH Lurie Prize

February 16, 2016

Rettsyndrome.org is excited that Dr. Jeannie Lee is the winner of this year’s Lurie Prize from the Foundation for the NIH for outstanding work in epigenetics! Dr. Jeannie Lee was a previous grantee of Rettsyndrome.org , receiving a 2013 HeART award for the project “Treating Rett syndrome via selective reactivation of the silenced MECP2 allele”. 

 

Our Research Approach

February 5, 2016

In 2015, tremendous progress was made in our efforts to advance Rett syndrome research. This year holds even more promise for Rett syndrome as Rettsyndrome.org continues to fund research programs. Continue reading to hear our approach for 2016.

 

Worldwide Faces of Rett Syndrome: Russia May 2016 World Congress

January 8, 2016

In May 2016 Russia will host the World Congress on Rett syndome. Hear from one of the organizers of this event. 

 

Rett Syndrome Now Eligible for $278 Million in Federal Research Dollars

December 30, 2015

In January of 2015, RSO (Rettsyndrome.org) undertook an ambitious advocacy campaign on Capitol Hill with the intent of enabling Rett syndrome research to be funded by the Department of Defense (DOD). 

 

New Details of the Pediatric Phase 2 Clinical Trial Study of Trofinetide

December 8, 2015

Neuren Pharmaceuticals is preparing a new Phase 2 clinical trial with trofinetide in a pediatric population with Rett syndrome. The study is aiming to enroll approximately 48 individuals, all of whom will receive trofinetide. The primary goal of the study will be to assess the tolerability and safety of the study medication in this younger population. 

 

Three Significant Trofinetide Announcements from Neuren Pharmaceuticals: An Overview

November 24, 2015

Neuren Pharmaceuticals has made three significant announcements in the last two months regarding trofinetide, the drug candidate they are developing as a treatment for Rett syndrome. 

 

Neuren announces important progress in the US and Europe for trofinetide in Rett Syndrome

July 29, 2015

Neuren held a productive meeting with US Food and Drug Administration (FDA) about the drug trofinetide in treatment for Rett syndrome. 

 

Senate Appropriations Committee approves funding for research program with Rett Syndrome listed as an eligable condition

July 17, 2015

The Senate Appropriations Committee approves $278 for the Peer Review Medical Research Program and for the first time Rett syndrome is listed as a condition eligible for study in this program. 

 

Newron's Sarizotan gets FDA orphan status to treat Rett Syndrome

July 15, 2015

Newron Pharmaceuticals has received orphan drug designation from the US Food and Drug Administration (FDA) for its new chemical entity (NCE) sarizotan to treat Rett syndrome. Read on to learn more about this new possible treatment option.

 

New Discovery About the X Chromosome Opens Up Possible Avenues for Future Treatments for Rett Syndrome

July 1, 2015

A critical paper regarding the X chromosome was published this week in Sciencexpress (June 18, 2015 pages 1-19) that will have a direct bearing on Rett syndrome in the foreseeable future.

 

Trofinetide for Rett Syndrome in Recent News

June 22, 2015

A novel agent is holding out some much-needed promise for girls and women with Rett syndrome. 

 

Elected Officials are Considering Including Rett Syndrome Funding in the Department of Defense’s 2016 Budget

April 28, 2015

As the result of meetings held in Washington DC, many of our elected officials are thinking about Rett syndrome right now.

 

Revive Therapeutics Announces Positive Study Results From Its Research Collaboration With Rettsyndrome.org

April 28, 2015

Positive results announced by Revive Therapeutics as part of our Scout Program to identify potential new therapeutic drug treatments for Rett syndrome. 

 

Surprising Contributor to Rett Syndrome Identified

April 21, 2015

Cells meant to maintain health worsening neurodevelopmental disorder's progression - University of Virginia Health System.

 

Neuren's Breakthrough Therapy Status Recent Update: What Does it Mean?

March 2, 2015

Today Neuren Pharmaceuticals announced that the U.S. Food and Drug Administration responded to their request for Breakthrough Therapy Status, one of several programs at the FDA for drug development. 

 

Today Neuren Pharmaceuticals announced that the U.S. Food and Drug Administration responded to their request for Breakthrough Therapy Status, one of several programs at the FDA for drug development.

Today Neuren Pharmaceuticals announced that the U.S. Food and Drug Administration responded to their request for Breakthrough Therapy Status, one of several programs at the FDA for drug development. - See more at: https://www.rettsyndrome.org/blog/neuren-breakthrough-status-explained#sthash.G3Lx43P5.dpuf

 

Today Neuren Pharmaceuticals announced that the U.S. Food and Drug Administration responded to their request for Breakthrough Therapy Status, one of several programs at the FDA for drug development. - See more at: https://www.rettsyndrome.org/blog/neuren-breakthrough-status-explained#sthash.G3Lx43P5.dpu

Neuren and the Orphan Drug Status: An Overview

February 17, 2015

This week’s news that Neuren Pharmaceuticals has been granted Orphan Drug Status by the FDA for NNZ-2566, now known as Trofinetide, is good news for families who live with Rett Syndrome. 

 

 

Revive Therapeutics Enters Into Research Collaboration With Rettsyndrome.org

January 15, 2015

TORONTO, ONTARIO--(Marketwired) - Revive Therapeutics Ltd. ("Revive" or the "Company") (TSX VENTURE:RVV) is pleased to announce that it has entered into a research collaboration with Rettsyndrome.org to explore the potential of Revive's REV-003 (Tianeptine) for the treatment of Rett syndrome.As part of the collaboration, Revive will supply the drug to conduct the study under the Rettsyndrome.org Scout Program. 

 

NNZ- 2566 Clinical Trial: The Families Who Participated

December 23, 2014

Many of you know Geraldine (aka "Cake") from Virginia and her daughter Amanda.  We know her as a strong, capable, intelligent advocate and mother, who always has a smile on her face and a “can-do” attitude.  But there is more depth and detail to her life story than most of us know and she is willing to share a glimpse with us. 

 

How we choose a research project to fund and what exactly happens behind the scenes to ensure the research investments of Rettsyndrome.org are good ones.

December 15, 2014

We realize this blog is a comprehensive read, but it is also an extensive and vital subject. Understanding how we choose to fund Research Projects and what safeguards we have in place is as important to you as it is crucial to Rettsyndrome.org. 

 

NNZ-2566 success:  Breaking it down and answering one common question:  “What is this drug supposed to do for girls and women with Rett syndrome?”

November 13, 2014

It’s been an incredible week for the Rett syndrome community with the announcement from Neuron Pharmaceuticals about its successful phase 2 NNZ 2566 Clinical Trial. We wanted to take the time to answer one common question: “What is this drug supposed to do for girls and women with Rett syndrome?” 

 

Current Clinical Trials in Rett Syndrome

November 13, 2014

In this blog I will cover the current status and progress of all drug intervention related Rett syndrome trials found on Clinicaltrials.gov.

 

Where Care Meets Cure: The Growth of Rett Clinics - UPDATE

November 7, 2014 (Update from August 4, 2014 post)

Rettsyndrome.org is committed to cultivating NETWORKED centers; our successes in this field means that we are regularly asked to consult on how to bring this clinic model to more cities in the U.S., and to more countries around the world.

 

The NIH Funded Natural History Study

November 5, 2014

Last week a co-operative agreement was announced to fund research for the Natural History Study, a Research Consortium, to be led by Dr. Alan Percy University of Alabama at Birmingham. 

 

Advancing Research.
Building programs to maximize our girls’ abilities (Neuro-Habilitation).

September 29, 2014

We’ve just announced some of the exciting studies in a brand new research area here at Rettsyndrome.org, and we wanted to take a moment to discuss what the program is and what aims to achieve. 

 

Rettsyndrome.org Invests $1.5M for Translational Research and Establishes New Neuro-Habilitation Program for Rett Syndrome in the first half of 2014

September 19, 2014

The Rettsyndrome.org Board of Directors has awarded $1.5M to support 10 new grants to further translational research, launch the neuro-habilitation therapeutic program, and fund clinical research. .

 

A Human Clinical Trial Study on NNZ-2566

April 17, 2014

If you follow Rett research closely (or maybe even loosely), NNZ-2566 will be a drug name you’re familiar with. But if you're looking for information about this potentially groundbreaking new medication and the implications it may have for Rett syndrome, please read this Research Digest we developed with Cure Rett and Neuren to answer questions.

 

The Rett and Statins Paper Explained

April 16, 2014

You may have heard that "Statins Suppress Rett Symptoms in Mice". We know that title looks pretty bold and exciting. And it is! But possibly not for the reasons you think, and we are here to help break these things down in plain English.

 

Gene Therapy for Rett Syndrome?

March 2, 2014

As of late, there's been much buzz about gene therapy as a potential treatment for Rett syndrome. And for good reason! As many of us are aware of the pioneering 2007 reversal studies by Adrian Bird’s laboratory, it is hoped that by adding in a good copy of MECP2 through gene therapy methods could potentially improve symptoms of Rett syndrome or even potential reverse it.