We were founded on a passionate belief that innovation in gene therapy can bring treatment options to patients with complex neurological diseases—patients who are waiting with unmet needs and often overlooked.
Our Approach
The heart of our work is bringing the patient community's perspective into everything we do. Patients and families affected by rare conditions are experts and their input is critical for helping us understand how these conditions affect everyday life and what matters most to them. These learnings guide how we develop potential treatments and conduct research.
We recognize and honor that it is their contributions and efforts that make scientific advances possible. Our gratitude goes to every family who chooses to join clinical research, and we are committed to supporting them throughout their journey.
What is Rett Syndrome?
Rett syndrome is a rare, X-linked, progressive, genetic neurodevelopmental disorder. It has an estimated worldwide incidence of 1 out of every 10,000 live female births.
The condition is caused by variants in the MECP2 gene that lead to deficiency of the methyl cytosine binding protein 2, an important protein responsible for normal function in the brain and other parts of the nervous system.
Rett syndrome occurs almost exclusively in females, and the incidence in males is currently unknown. Advances in genetic testing and phenotypic identification have revealed that MECP2 variants in males are responsible for a wide spectrum of neurological disorders, including Rett syndrome.
The impact on patients and families is profound. Rett syndrome leads to severe impairments that affect nearly every aspect of patients’ lives. This includes their ability to speak, walk, eat and breathe. Most females are nonverbal, lack motor skills and require 24-hour care for all activities of daily living. Many females with Rett syndrome appear to understand the world around them, leaving many caregivers feeling that their daughters are intellectually and emotionally intact.
Females with Rett syndrome typically have normal development until 6–18 months of age, followed by a progressive deterioration of acquired skills such as gross and fine motor skills, purposeful hand function and communication. They subsequently develop stereotypic hand movements such as handwringing.
Over time, females may develop muscle contractures, rigidity, and debilitating scoliosis, along with periods of recurrent seizures, and burdensome gastrointestinal and breathing abnormalities.
Although there is one approved treatment for Rett syndrome, there is no treatment option that addresses the root cause of disease, and a significant unmet need still exists for new treatment options.
Community Perspectives
We are grateful to patients and families who share their experience and perspectives with us. Hear directly from families affected by Rett syndrome.
If it hasn’t been made abundantly clear, Rett syndrome is devastating, full stop. We want future treatments to come with greater velocity and given the staggering nature of it, I think we have the opportunity to be a little bit more bold in pursuit of some more exotic things like gene therapies. I think from what we’ve heard today, this is a community that will go to great lengths, traveling to the ends of the earth, based on a hope of a treatment.”
Caregiver to a 5-year-old living with Rett syndrome
It’s incredibly difficult to just cope with the fact our daughter has difficulty breathing, eating, sleeping, moving, digesting. We try to get her therapies to make her the most comfortable she can be.”
Caregiver to a 3-year-old living with Rett syndrome
Even if there is a tiniest improvement in any of the symptoms, whether that’s improved quality of sleep or seizure control or better ability to swallow and eat, all of that helps with the quality of life, not only for our daughter and girls like her, but everybody else.”
Caregiver to an 18-year-old living with Rett syndrome
Rett Syndrome Resources
Our commitment to patients and families affected by Rett syndrome goes beyond the science; we want to raise awareness and connect them with helpful resources.
International Rett Syndrome Foundation
The International Rett Syndrome Foundation's mission is to accelerate full spectrum research to cure Rett syndrome and empower families with information, knowledge, and connectivity.
Rett Syndrome Research Trust
The singular goal of the Rett Syndrome Research Trust is to find cures for Rett syndrome as efficiently and quickly as possible.
Reverse Rett
Reverse Rett is a UK charity driving treatments and a cure for Rett syndrome into the lives of everyone affected.
Rett UK
Rett UK is a national charity dedicated to supporting and empowering people with Rett syndrome and their families.
Rett Syndrome Association of Australia
The Rett Syndrome Association of Australia Inc. (RSAA) is a not-for-profit organization that is managed by a committee of volunteers, most of whom are parents or grandparents of Rett syndrome children. The Association seeks to enhance the quality of life for people with the syndrome and their families and be of assistance to anyone interested in the disorder.
Rett Syndrome Europe
Rett Syndrome Europe is a small, not for profit, voluntary led organization to serve the interests of families across Europe affected by this devastating disorder. The board is comprised of parents of people with Rett syndrome.
Rett Syndrome Clinical Program
We are evaluating our investigational gene therapy for Rett syndrome, NGN-401, in a clinical trial called Embolden™.
NGN-401 is delivered by an adeno-associated virus (AAV) to the brain through a one-time surgical procedure. Some viruses, such as AAV, are good at delivering genetic material like NGN-401 to cells in the body. When a virus is used in this way, it does not cause disease.
We have shared findings from our Phase 1/2 clinical trial that have shown multidomain, durable gains with continued developmental milestone/skill acquisition in pediatric participants who received the 1E15 vg dose of NGN-401 as of the data cutoff date of October 30, 2025.
Embolden Clinical Trial Frequently Asked Questions
What is gene therapy and why is it being researched as a treatment for Rett syndrome?
- Gene therapy is a medical approach designed to deliver a working copy of a gene to a person’s body to treat a genetic disorder like Rett syndrome.
- Rett syndrome is caused by variants in a single gene called MECP2. Delivering a working copy of the gene may be able to treat the disease.
What type of clinical trial is Embolden?
- Embolden is an open-label, baseline-controlled trial evaluating a single dose of NGN-401 gene therapy at the 1E15 vg dose. This is a clinical trial where all participants receive the investigational gene therapy product.
What is the route of administration into the body of NGN-401?
- The investigational gene therapy is given as a single intracerebroventricular (ICV) administration into the brain.
- ICV delivery has shown in preclinical studies to have the broadest targeting of brain and nervous system regions that underly the development and progression of Rett syndrome.
Who is eligible to participate in Embolden?
- Individuals may be eligible to join Embolden if they meet the following criteria:
- Female diagnosed with classic Rett syndrome
- Has a variant in the MECP2 gene
- 3 years old or older
- Is post-regression
- Has a committed primary caregiver with the time and ability to complete all required study tasks
- Meets other study requirements
How can families find the most recent clinical trial information and status?
- Families can find the most recent clinical trial information on clinicaltrials.gov.
How can families express their interest in the clinical trial?
- Interested families should directly contact a clinical trial site that is currently enrolling.
- The contact information for all the clinical trial sites is available at clinicaltrials.gov.
Embolden Clinical Trial Downloads
Patient Advocacy & Engagement at Neurogene
Kimberly Trant, RN, MBA
Executive Director
Patient Advocacy & Engagement
+1 (877) 237-5020
[email protected]
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About NGN-401
Rett Syndrome Clinical Program
Expanded Access Policy
Rachel McMinn, Ph.D., is Chief Executive Officer of Neurogene and serves as Executive Chair of the company’s Board of Directors. She founded Neurogene in January 2018 with the mission of developing genetic medicines to improve the lives of neurologically-impaired people and their families. Prior to founding Neurogene, Dr. McMinn served as the Chief Business and Strategy Officer of Intercept Pharmaceuticals, a company dedicated to patients with serious liver disease. Prior to her industry experience, Dr. McMinn was an award-winning biotechnology analyst, with 13 years of experience at firms including Bank of America Merrill Lynch, Cowen, and Piper Jaffray. She graduated from Cornell University magna cum laude with a B.A. and earned her Ph.D. from The Scripps Research Institute and was awarded a Post-Doctoral Miller Fellowship at the University of California, Berkeley.
Christine Mikail, J.D., is President and Chief Financial Officer of Neurogene. In her role, Ms. Mikail leads Corporate Strategy and Business Development, Portfolio Management, Operations, and Finance. Ms. Mikail, who joined Neurogene in 2019, brings over two decades of experience supporting biotechnology and pharmaceutical companies in corporate strategy and business development, operations, legal and finance capacities. Prior to Neurogene, Ms. Mikail was Chief Administrative Officer and Head of External Business Development/Alliance Management and General Counsel at Axovant Sciences, Inc., where she was an integral member of the team that raised $362 million in the company’s IPO. Prior to joining Axovant, she held a variety of senior executive positions at NPS Pharmaceuticals, Inc., Dendreon Corporation, Eli Lilly and Company, and ImClone Systems. Ms. Mikail developed her life sciences focus as a corporate and securities lawyer at Reed Smith and WilmerHale. Ms. Mikail graduated cum laude with a B.A. from Rutgers University and earned her J.D. from Fordham University School of Law in
Andrew Mulberg, M.D., serves as Senior Vice President, Regulatory Affairs, Quality Assurance, and Quality Control at Neurogene. Dr. Mulberg is a pediatric gastroenterologist with nearly 30 years of experience and has a strong passion for helping bring important new medicines to market for patients with devastating rare diseases. In his role at Neurogene, he provides strategic leadership and direction for regulatory and quality activities. Prior to joining Neurogene, Dr. Mulberg led global regulatory affairs for Amicus Therapeutics and held various roles of increasing responsibility within global drug development and medical affairs at Johnson & Johnson. In addition to Dr. Mulberg’s biotechnology and pharmaceutical experience, he spent six years as the Division Deputy Director in the Division of Gastroenterology and Inborn Errors Products at the U.S. FDA. He received his B.A. from Columbia University and his M.D. from Mount Sinai School of Medicine. Dr. Mulberg also previously served as Attending Physician and Fellowship Director of Gastroenterology and Hepatology at Children’s Hospital of Philadelphia. He is currently an adjunct Professor of Pediatrics at the University of Maryland Medical Center, and Chairman of the Medical Advisory Board Go4 the Goal foundation, a pediatric cancer advocacy 501(c)(3) organization.
Stuart Cobb, Ph.D., is Chief Scientific Officer at Neurogene. Dr. Cobb, who joined Neurogene in 2019, brings to the team more than 20 years of experience in translational neuroscience. He leads Neurogene’s scientific research, the development of scientific strategy to support the company’s existing and growing gene therapy portfolio, and efforts to identify novel technologies that complement Neurogene’s pipeline. In addition to his role at Neurogene, Dr. Cobb also leads a research team at the University of Edinburgh, where he is Professor of Translational Neuroscience at Simons Initiative in the Developing Brain and Centre for Discovery Brain Sciences. Prior to his work at Neurogene, Dr. Cobb was a Caledonian Research Fellow and led an academic research laboratory at the University of Glasgow. His research has focused on developing novel genetic treatments for brain disorders based on a deep understanding of the molecular and cellular pathology. Dr. Cobb’s work has been published in leading journals and includes seminal work on the inherent reversibility of neurological features in neurodevelopmental disease. Dr. Cobb has a B.Sc. from the University of Glasgow and a Ph.D. in Neuroscience from the University of Oxford.
Donna M. Cochener, J.D., LL.M., is Senior Vice President and General Counsel of Neurogene. She is a seasoned legal and executive professional with over two decades of experience in corporate law, governance, and executive leadership across the biotechnology and financial services sectors. Prior to joining Neurogene, Ms. Cochener held the roles of Interim Chief Executive Officer and General Counsel at Neoleukin Therapeutics, where she led the company through its merger with Neurogene in December 2023. Her earlier career includes serving as Senior Vice President and Deputy General Counsel at HomeStreet, Inc., the parent company of HomeStreet Bank, where she was primarily responsible for securities reporting and compliance, corporate governance, and led various transactions including mergers and acquisitions. Ms. Cochener was previously a partner at Davis Wright Tremaine LLP in Seattle, and also held associate positions at Heller Ehrman LLP, Riddell Williams P.S., and Perkins Coie LLP.
Julie Jordan, M.D., is Chief Medical Officer at Neurogene. Dr. Jordan brings over 20 years of industry and clinical expertise involving the design and execution of global clinical trials across multiple development areas, including gene therapy and central nervous system disorders. Before joining Neurogene, she was Chief Medical Officer at Homology Medicines, where she was responsible for leading clinical development and operations, leading regulatory interactions and supporting translational research programs for the company’s pipeline of gene therapy and gene editing candidates for rare diseases. She previously held global leadership roles of increasing responsibility at Cerevel Therapeutics, Avanir Pharmaceuticals and Teva Pharmaceutical Industries. Prior to her industry experience, Dr. Jordan was a practicing physician for 10 years and previously served as Clinical Instructor of Medicine at Harvard Medical School and in the Department of Medicine at Massachusetts General Hospital (MGH). She holds an A.B. in Biology from Harvard College and an M.D. from Harvard Medical School and completed her residency in Internal Medicine at MGH, Harvard Medical School.
Arvind Sreedharan serves as Senior Vice President, Business Operations at Neurogene. Mr. Sreedharan, who leads business operations at Neurogene, has over three decades of commercial experience in the pharmaceutical and biotechnology industry, including significant experience in CNS disorders and multiple orphan diseases. Prior to Neurogene, he served as Vice President, U.S. Commercial Operations for AveXis, the gene therapy company that developed Zolgensma®, an FDA-approved treatment for spinal muscular atrophy (SMA), which was acquired by Novartis for $8.7 billion. Earlier, Mr. Sreedharan served as Vice President of Marketing at Auspex Pharmaceuticals, a biopharmaceutical company focused on hyperkinetic movement disorders and rare diseases, acquired by Teva Pharmaceutical for $3.5 billion. Before Auspex, he served as Director, Movement Disorders at Lundbeck, where he played an integral commercial role in the successful product launch and management of Xenazine®, the first FDA-approved drug for the treatment of chorea associated with Huntington’s disease. Mr. Sreedharan has supported and partnered with numerous rare disease advocacy groups throughout his career. He previously served on the Huntington’s Disease Society of America Board of Trustees and is currently a member of the Board of Directors for The Huntington Study Group (HSG), the first Huntington’s Disease cooperative therapeutic research organization and a world leader in facilitating high-quality clinical research trials and studies in Huntington’s Disease. Mr. Sreedharan holds a B.A. in both Biology and History from the University of North Carolina.
Ricardo Jimenez serves as Senior Vice President, Technical Operations at Neurogene. Mr. Jimenez has nearly three decades of experience in the pharmaceutical and biotechnology industry, the majority of which has been focused in the gene therapy field. He joined Neurogene in 2018 and during his tenure has led the company’s internal build out of process and analytical development, the CGMP manufacturing facility including its design, manufacturing operations, quality assurance, and quality control supporting viral vector manufacturing from research grade to clinical scale. Prior to his work at Neurogene, Mr. Jimenez was the site head of the Lonza Houston manufacturing facility and played a leading role in establishing Lonza as a leading contract cell and gene therapy manufacturer, including designing and overseeing the construction of the cell and gene therapy facility in Texas. He began his career in gene therapy in 2005 at Introgen Therapeutics, where he was responsible for the validation activities for adenoviral-based products, and subsequently served as Head of Quality at Vivante GMP Solutions, a gene therapy contract manufacturing organization acquired by Lonza in 2010. Mr. Jimenez holds a B.S. in Biomedical Science from Texas A&M University.