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	<title>Rett Syndrome Research Trust News</title>
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	<description>News brought to you by Rett Syndrome Research Trust</description>
	<pubDate>Fri, 01 Aug 2025 20:29:35 -0500</pubDate>
	<copyright>Copyright Rett Syndrome Research Trust</copyright>
	<ttl>60</ttl>
	<item>
		<title>Monica Coenraads Makes Forbes 50 Over 50 List</title>
		<description><![CDATA[We’re proud to share that our founder and CEO, Monica Coenraads, has been named to the 2025 Forbes 50 Over 50 list in the Impact category—one of four designations that celebrate women driving meaningful change across business, science, politics, and culture.

This annual list recognizes 50 women over the age of 50 who are using their insight and influence to leave the world better than they found it. Monica appears in remarkable company alongside visionaries like Maria Shriver, Halle Berry, and biotech leaders including Yvonne Greenstreet (CEO, Alnylam Pharmaceuticals), Jane Grogan (Head of Research, Biogen), and Vicky Sato (Chair, Vir Biotechnology).

As Forbes notes, Monica’s leadership began in deeply personal territory. When her daughter, Chelsea, was diagnosed with Rett in 1998, she transformed heartbreak into action. Within a year, she co-founded the first organization devoted to advancing Rett research, with a clear and unwavering goal: cure the root cause. Since then,]]></description>
		<pubDate>Fri, 01 Aug 2025 12:41:07 -0500</pubDate>
		<link>https://reverserett.org/news/articles/monica-honored-in-forbes-50-over-50/</link>
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		<title>Neurogene Announces Trial Design for Embolden™ Study of NGN-401 Gene Therapy for Rett Syndrome</title>
		<description><![CDATA[Neurogene has announced key design elements of its upcoming registrational clinical trial, Embolden™, for NGN-401, an investigational gene therapy for Rett syndrome. A registrational clinical trial gathers a comprehensive set of data for review by regulatory agencies like the FDA or EMA with the goal of obtaining regulatory approval to market the therapeutic. 

Here are some highlights:


	The trial will include females aged 3 and older with a total of 18 patients expected to be enrolled.
	Participants will receive a single dose of NGN-401 in an open-label, single-arm, baseline-controlled study.
	The primary efficacy endpoint will assess improvement over a 12 month period using the CGI-Improvement scale, along with the gain of at least one developmental milestone or skill from a list of 28.


Trial site locations have not yet been determined, and enrollment is not yet open.]]></description>
		<pubDate>Fri, 27 Jun 2025 18:38:49 -0500</pubDate>
		<link>https://reverserett.org/news/articles/neurogene-embolden-announce-june30-2025/</link>
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		<title>Apertura Gene Therapy and Rett Syndrome Research Trust Collaborate to Pioneer Advanced Genetic Medicines for Rett Syndrome Using TfR1-Targeted AAV Capsid</title>
		<description><![CDATA[New York, NY and Trumbull, CT, April 30, 2025 – Apertura Gene Therapy, a biotechnology company focused on innovative gene therapy solutions, and the Rett Syndrome Research Trust (RSRT), an organization working to cure Rett Syndrome, today announced a collaboration to license Apertura’s human transferrin receptor 1 capsid (TfR1 CapX). This partnership aims to advance innovative genetic medicine approaches for the treatment of Rett Syndrome, a rare genetic neurological disorder caused by random mutations in the MECP2 gene on the X chromosome that primarily affect females, causing developmental regression and severe motor and language impairments.

Apertura’s TfR1 CapX is an intravenously delivered adeno-associated virus (AAV) capsid engineered to bind the transferrin receptor 1 (TfR1), enabling efficient delivery of genetic medicines across the blood-brain barrier (BBB). TfR1 is a well-characterized BBB-crossing receptor,]]></description>
		<pubDate>Mon, 14 Apr 2025 08:19:16 -0500</pubDate>
		<link>https://reverserett.org/news/press-releases/apertura-gene-therapy-and-rsrt-collaborate-on-tfr1-targetted-aav-capsid/</link>
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		<title>Breaking Barriers: New Pathways Into the Brain</title>
		<description><![CDATA[RSRT is teaming up with Apertura Gene Therapy to bring TfR1 CapX, a groundbreaking new delivery technology, into our genetic medicine programs. TfR1 CapX’s ability to non-invasively target the brain at low doses could be a game changer for treating Rett syndrome and other neurological disorders.



 

A Big Development in Delivery

You’ve all heard the saying that in real estate, it’s all about “location, location, location.” But when it comes to developing genetic medicines for Rett and other devastating conditions, success rides on “delivery, delivery, delivery”— how the treatment actually makes its way to the target, in our case…the brain. 

We’re constantly looking for promising new delivery approaches, which is why we’re excited to tell you about our new partnership with Apertura Gene Therapy. This biotech company, founded on the research of Ben Deverman at the Broad Institute in Boston,]]></description>
		<pubDate>Fri, 11 Apr 2025 12:17:45 -0500</pubDate>
		<link>https://reverserett.org/news/articles/rsrt-is-teaming-up-with-apertura-gene-therapy-tfr1-capx/</link>
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		<title>How Will Cuts to FDA and NIH Impact Gene Therapy Clinical Trials and Rett Syndrome Research?</title>
		<description><![CDATA[Are the current gene therapy clinical trials impacted by or at risk from the financial cuts in the US federal agencies?

The clinical trials sponsored by Neurogene and Taysha are funded by the companies and not federal money. This means the financial cuts taking place should not, in the short term, directly affect the funding available to conduct the current trials taking place.

In the long term, decisions being made in DC may impact the companies’ future decisions.

 

How could the cuts and changes at the FDA impact current and future gene therapy clinical trials?

Before answering this question it’s important to understand what the FDA’s role is in gene therapy clinical trials.

The FDA’s Role in Trials

Gene therapy products are reviewed and approved by the Center for Biologics Evaluation and Research (CBER) within the FDA, and specifically the Office of Therapeutic Products (OTP) within CBER.

The FDA is responsible for ensuring that gene therapies are safe and effective.]]></description>
		<pubDate>Wed, 16 Apr 2025 12:11:12 -0500</pubDate>
		<link>https://reverserett.org/news/articles/how-funding-cuts-impact-rett/</link>
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		<title>Rewriting RNA: RSRT Funds Genetic Engineers in the AbuGoot Lab</title>
		<description><![CDATA[DNA and RNA editing tools have the possibility to fix the mutations that cause Rett syndrome, with the potential to reduce or even reverse symptoms. Since 2010, RSRT has been funding scientists working to develop and refine genomic medicines. The latest researchers to join the RSRT family are Omar Abudayyeh and Jonathan Gootenberg who are working together to create an RNA-based genetic medicine for Rett syndrome.

Omar is an Assistant Professor at Harvard Medical School and also an Investigator at Brigham and Women’s Hospital and the Mass General Brigham Gene and Cell Therapy Institute. Jonathan is also an Assistant Professor at Harvard Medical School and an Investigator at Beth Israel Deaconess Medical Center.

Auspicious Beginnings

Omar and Jonathan met 15 years ago as undergraduate bioengineering students at MIT. What started as an email exchange about homework developed into working on research projects for a capstone course. 

A shared passion for cutting-]]></description>
		<pubDate>Mon, 14 Apr 2025 12:40:21 -0500</pubDate>
		<link>https://reverserett.org/news/articles/rsrt-awards-the-abudayyeh-gootenberg-labs-innovations/</link>
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	<item>
		<title>NYU Seizure Study Needs Your Videos</title>
		<description><![CDATA[We’re excited to collaborate with NYU’s Comprehensive Epilepsy Center.

Calling all caregivers willing to share videos of their child experiencing seizures or seizure-like events.

Dr. Orrin Devinsky and Dr. Dana Price at NYU are investigating how accurately parents and epileptologists can classify seizure types and siezure-like events in rare genetic epilepsies using smartphone devices. 

Please take a look at the criteria below to see if you qualify, and to find contact information.

 

Who can Participate:

Ages 3 months to 35 years old.

Confirmed genetic diagnosis of: SYNGAP, CDKL5, MECP2, CACNA1A, STXBP1 or KCNQ2.

Can provide videos of seizures or seizure-like events, ideally accompanied by a video EEG recording.

 

For more information, reach out to Kim Nguyen at

646-558-0842]]></description>
		<pubDate>Tue, 18 Mar 2025 13:11:34 -0500</pubDate>
		<link>https://reverserett.org/news/articles/nyu-seizure-study/</link>
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	<item>
		<title>RSRT Appoints Amy Gilliland to its Board of Trustees</title>
		<description><![CDATA[Trumbull, CT  – Rett Syndrome Research Trust (RSRT), the organization working to cure Rett syndrome, is pleased to announce that Amy Gilliland, President of General Dynamics Information Technology (GDIT), has joined its Board of Trustees. Amy’s daughter, Ashley, who was diagnosed with Rett syndrome in 2015, is the inspiration behind her drive to help find a cure for the 350,000 children and adults living with this devastating neurological disorder worldwide. 

“I’m thrilled to join the Board of Trustees and get even closer to the Reverse Rett mission,” says Amy Gilliland. “As a parent of a child living with Rett syndrome—like so many others leading and advising the RSRT— I share their dedication and urgency to find a cure.  RSRT is an organization that delivers results. I am confident Rett syndrome can be eradicated, and I am excited to support the research that will get us there.”

Amy brings significant experience in strategy, business growth, and leadership.]]></description>
		<pubDate>Wed, 12 Mar 2025 16:21:44 -0500</pubDate>
		<link>https://reverserett.org/news/press-releases/rsrt-appoints-amy-gilliland-to-board-of-trustees/</link>
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	<item>
		<title>3900 Trials and Counting: The Global Outlook on Genetic Medicines</title>
		<description><![CDATA[The landscape of genomic medicine has changed rapidly over the past decade, and even more in the past five years. A review article published over the summer in the Journal of Gene Medicine looks at the global landscape of clinical trials using genomic approaches like gene therapy, genome editing, and RNA silencing, starting with the first trial in 1990 where researchers treated a young girl with severe genetic immunodeficiency. In this piece, we’ll review the key findings most relevant to Rett syndrome.

What’s being treated?

Cancers are the most common indication for clinical trials using genetic medicines, accounting for almost 70% of trials initiated or completed over the last 35 years. A range of strategies have been used, most prominently CAR-T immunotherapy, which relies on editing T cells to better detect and attack cancerous cells. CAR-T trials mainly focus on non-tumor cancers like leukemias, although progress is being made with using CAR-T to attack solid tumors.]]></description>
		<pubDate>Mon, 10 Feb 2025 20:31:18 -0600</pubDate>
		<link>https://reverserett.org/news/articles/global-outlook-on-genetic-medicines/</link>
		<guid>https://reverserett.org/news/articles/global-outlook-on-genetic-medicines/</guid>
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	<item>
		<title>Teaming Up With CRISPR Pioneer Jennifer Doudna to Develop Genetic Medicines for Rett</title>
		<description><![CDATA[Genome editing tools like CRISPR have the possibility to fix mutations that cause Rett syndrome, with the potential to reduce or even reverse symptoms. But ask any genome editor what the biggest challenge in the field is, and they will tell you in just three words: delivery, delivery, delivery.

RSRT has funded researchers to develop and refine ways to deliver genomic medicines. Late last year, RSRT awarded $1.2 million to CRISPR co-inventor and 2020 Chemistry Nobel Laureate Jennifer Doudna and Doudna lab researcher Kai Chen to refine tools for delivering CRISPR to the brain, with the ultimate goal of creating a CRISPR genome-editing treatment for Rett syndrome.

&#x00022;We are excited to partner with RSRT on this new project, which taps into one of IGI’s core missions: advancing innovative technologies to treat rare diseases,” says Doudna. “Enabling brain delivery will not only be crucial for treating Rett syndrome,]]></description>
		<pubDate>Tue, 21 Jan 2025 23:26:07 -0600</pubDate>
		<link>https://reverserett.org/news/articles/doudna-teams-up/</link>
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	<item>
		<title>Updates from the MECP2 Editing Consortium</title>
		<description><![CDATA[RSRT has championed a consortium model for Rett syndrome research almost since its inception. Bringing together researchers with synergistic expertise to accelerate progress is the epitome of the often-cited phrase, “The sum is greater than the parts”.

Modeled after the successful MECP2 Consortium and Gene Therapy Consortium, which laid the foundation for the development of current gene therapy trials, RSRT launched a new effort in late 2024: the MECP2 Editing Consortium. Supported by a $7 Million investment from RSRT, the MECP2 Editing Consortium is a collaboration between six labs, aimed at creating DNA and RNA editing therapies for Rett syndrome.

Supporting the MECP2 Editing Consortium every step of the way is our consulting partner, Dark Horse, who specialize in gene and cell therapy. RSRT’s internal team of Chief Technology Officer Bob Deans, PhD, Chief Medical Officer Randy Carpenter, MD, and Chief Scientific Officer Jana von Hehn, PhD,]]></description>
		<pubDate>Sat, 18 Jan 2025 10:43:02 -0600</pubDate>
		<link>https://reverserett.org/news/articles/mecp2-editing-cons-updates/</link>
		<guid>https://reverserett.org/news/articles/mecp2-editing-cons-updates/</guid>
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	<item>
		<title>A Review of Gene Therapy Clinical Trials</title>
		<description><![CDATA[RSRT is constantly working hard to accelerate cures for Rett syndrome. In 2023, the initial patients were dosed in the first-ever clinical trials of gene therapy for Rett syndrome. Two biotech companies, Taysha Gene Therapies and Neurogene, advanced these trials with deep involvement from previously funded RSRT scientists. In 2024, we saw the first report on data from these trials. There are safety concerns to be addressed, but also lots to be hopeful about, with trial participants showing improvement in motor skills, communication, seizure activity, and more.

Here’s a summary of the trials, their treatment approaches, and the latest results:



The Treatment: Taysha&#x00027;s gene therapy for Rett syndrome, called TSHA-102, adds a shortened “mini-gene” version of the MECP2 gene to cells. It includes the miRARE technology, which is designed to tune the amount of MECP2 protein that is made from the gene therapy since too much MECP2 can have negative effects.]]></description>
		<pubDate>Tue, 14 Jan 2025 10:51:32 -0600</pubDate>
		<link>https://reverserett.org/news/articles/a-review-of-gene-therapy-clinical-trials/</link>
		<guid>https://reverserett.org/news/articles/a-review-of-gene-therapy-clinical-trials/</guid>
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	<item>
		<title>ProQR and RSRT Expand Collaboration to Build on RNA Editing Momentum</title>
		<description><![CDATA[Earlier this morning ProQR, a biotech company located in The Netherlands, announced a significant expansion of an existing collaboration with RSRT to advance RNA Editing therapeutics for Rett syndrome. The original collaboration that kicked off earlier this year generated exciting data that inspired this expansion. 

The entire RNA Editing industry has been invigorated recently with the early success of a clinical study sponsored by Wave Therapeutics for liver disease. We recently highlighted this landmark with a blog article. 

We&#x00027;re very enthusiastic about RNA Editing for several key reasons. RNA editing involves correcting a Rett mutation at the level of messenger RNA rather than DNA. A major benefit is that due to their small size, these RNAs can be injected and taken up like a small molecule drug and does not require viral or non-viral delivery. The stability of modified small RNAs is high, with half-lives of 6 to 9 months suggesting dosing would entail intrathecal injection twice a year.]]></description>
		<pubDate>Tue, 10 Dec 2024 07:50:29 -0600</pubDate>
		<link>https://reverserett.org/news/articles/proqr-rsrt-expand-collaboration/</link>
		<guid>https://reverserett.org/news/articles/proqr-rsrt-expand-collaboration/</guid>
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	<item>
		<title>Staying Resolute in Challenging Times</title>
		<description><![CDATA[Our Rett community is grieving and understandably concerned about the recent death of a young girl participating in the Neurogene clinical trial.

Over the last week, I’ve been asked three questions repeatedly: 


	Why did this happen?
	Where do we go from here?
	What can I do?


These questions don’t have simple answers. This situation is a sobering reminder that clinical trials, while they carry the potential for great positive change for all our loved ones, also come with risks. What I do know is that it remains essential to continue our pursuit of scientific advances that will deliver transformative genetic medicines. My colleagues and I remain resolute in our commitment.  

Below, I’ve shared some information that I hope you’ll find helpful. 

Why did this happen?

The young girl who participated in the trial experienced a serious adverse event (SAE) called systemic hyperinflammatory syndrome. Experts have described this type of event as a rare but known severe immune reaction to adeno-]]></description>
		<pubDate>Sat, 30 Nov 2024 10:26:46 -0600</pubDate>
		<link>https://reverserett.org/news/articles/staying-resolute-in-challenging-times/</link>
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	<item>
		<title>With Heavy Hearts</title>
		<description><![CDATA[To our fellow parents and all who love a child with Rett syndrome,

We are deeply saddened to tell you that the girl in the Neurogene clinical trial who had complications has passed away. Neurogene’s update to the Rett syndrome community is linked below. We join all of you in prayer and thought for this exceptionally brave girl, and we offer our most heartfelt condolences to her family and loved ones. This is a somber time for our entire community. Our love and admiration for all our fellow families and their children is more poignant than ever.]]></description>
		<pubDate>Thu, 21 Nov 2024 15:29:19 -0600</pubDate>
		<link>https://reverserett.org/news/articles/with-heavy-hearts/</link>
		<guid>https://reverserett.org/news/articles/with-heavy-hearts/</guid>
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	<item>
		<title>Neurogene Releases Update on NGN-401 Clinical Trial High Dose</title>
		<description><![CDATA[I’m writing to inform our community about an update that Neurogene gave this morning on its NGN-401 gene therapy clinical trial. You can read more details in Neurogene’s release in the link below.

The key information that Neurogene shared is that one patient, the child who was the third to receive high-dose gene therapy, experienced an immune response to the AAV.  She is alive but is in critical condition. The high-dose arm of the trial is being discontinued. The FDA has allowed the company to continue the low dose. The adult trial will also enroll low dose.

This program got its start at RSRT over ten years ago in our Gene Therapy Consortium. Alongside all of our community, we applauded as the trial got started and waited anxiously for news.  The first update of efficacy came last week and we were buoyed by the signs of improvement. The news that a child in the trial suffered a reaction to the high dose AAV fills us with sadness.]]></description>
		<pubDate>Mon, 18 Nov 2024 08:40:59 -0600</pubDate>
		<link>https://reverserett.org/news/articles/neurogene-announces-interim-data-from-clinical-trial-of-ngn-401-gene-therapy-for-rett-1/</link>
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		<title>A Tremendously Big Deal</title>
		<description><![CDATA[“For so many years, the editing field has been excited about the potential of RNA editing,” says Pete Beal, a biochemist at UC Davis who is leading one of RSRT’s RNA editing efforts. “Wave’s results are the first example of RNA editing for therapeutic purpose in humans. It’s a tremendously big deal for the whole RNA editing community.”

Wave revealed that the first two individuals dosed in their clinical trial for alpha-1 antitrypsin deficiency (AATD) had received the treatment with no serious adverse events and showed a therapeutic-level increase in the M-AAT protein that the patients otherwise lack. The protein increase began as early as day three and was observed through the duration of data analyzed thus far, representing almost two months after treatment.

Wave’s success is not only a major milestone in the treatment of AATD, a fairly common genetic condition which can cause lung and liver damage, but for the field of RNA editing.]]></description>
		<pubDate>Thu, 14 Nov 2024 08:36:38 -0600</pubDate>
		<link>https://reverserett.org/news/articles/a-tremendously-big-deal/</link>
		<guid>https://reverserett.org/news/articles/a-tremendously-big-deal/</guid>
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	<item>
		<title>Taysha Releases Financial, Enrollment Update and Community Letter</title>
		<description><![CDATA[Taysha provided an update today on their Rett syndrome gene therapy trial of TSHA-120.  The updates cover enrollment, recent FDA interactions and financial information.  No new clinical  information shared at this time. For details please see the resources below.]]></description>
		<pubDate>Wed, 13 Nov 2024 12:21:39 -0600</pubDate>
		<link>https://reverserett.org/news/articles/taysha-financial-update-in-community-letter-and-webcast/</link>
		<guid>https://reverserett.org/news/articles/taysha-financial-update-in-community-letter-and-webcast/</guid>
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	<item>
		<title>Neurogene Announces Interim Results from Gene Therapy Clinical Trial</title>
		<description><![CDATA[Today Neurogene hosted a webcast to share preliminary results on their pediatric clinical trial of NGN-401 gene therapy for Rett syndrome. Here are some highlights. Please note the links below.

Safety results on 5 patients who received low dose gene therapy and 2 patients who received high dose.  


	
	No unexpected safety concerns
	
	
	Known side effects of gene therapy (eg. liver function labs) resolved with steroid treatment
	
	
	No signs of MECP2 overexpression suggests EXACT regulatory control is working as expected
	
	
	No problems with Intracerebroventricular injection (ICV) procedure (direct injection into the ventricle of the brain)
	


During the webcast Neurogene disclosed an emerging treatment-related serious adverse event consistent with known risks of AAV gene therapy in the third high-dose participant who was recently dosed. This patient was recently treated and was not included in the safety or efficacy analysis presented today.]]></description>
		<pubDate>Fri, 08 Nov 2024 12:53:27 -0600</pubDate>
		<link>https://reverserett.org/news/articles/neurogene-announces-interim-data-from-clinical-trial-of-ngn-401-gene-therapy-for-rett/</link>
		<guid>https://reverserett.org/news/articles/neurogene-announces-interim-data-from-clinical-trial-of-ngn-401-gene-therapy-for-rett/</guid>
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	<item>
		<title>Hello Rett Community!</title>
		<description><![CDATA[I&#x00027;m Amanda, and I&#x00027;m so excited to join the RSRT team as Community Engagement Coordinator.

The journey leading me here has been both personal and professional. My 9-year-old daughter, Alanah, has Rett. Which, as many of you can relate,  has profoundly shaped my views and path in life. When Monica reached out to ask me if I was interested, it was a resounding yes! I have an incredible amount of respect and admiration for what RSRT is doing to find cures for Rett, so when she asked if I’d like to work with this community and contribute to accelerating the research, it was a no-brainer. 

So what is a “Community Engagement Coordinator” anyway? 

Well, my role here is to support the Rett community by enhancing our access and collective understanding of the work being done here at RSRT to cure our loved ones! Joining this team was a natural step in my quest to be part of something larger that promises hope and seeks solutions.]]></description>
		<pubDate>Fri, 06 Sep 2024 14:40:11 -0500</pubDate>
		<link>https://reverserett.org/news/articles/hello-rett-community/</link>
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