Treatment Pipeline
Learn more about the promising compounds and gene therapies being tested to treat Rett syndrome and view the most up-to-date status of their progress advancing through the research and clinical pipeline.
Rett Research & Clinical Trial Overview
More than 20 companies are actively working on treatments to improve the quality of life for individuals with Rett syndrome. Fifteen years ago, there were none. Scroll down to view the major drug development programs and track their progress from discovery to FDA approval. Click on a company to learn more about their approach and status.
| Stage 1 | Stage 2 | IND | Stage 3 | NDA or BLA | Stage 4 | FDA ✓ | |||
| Drug Discovery | Pre-Clinical | Clinical Trials | FDA Review | ||||||
| Phase 1 | Phase 2 | Phase 3 | |||||||
| ACADIA PHARMACEUTICALS DAYBUE™ (TROFINETIDE) | ✓ | ||||||||
| Anavex Life Sciences | |||||||||
| Minoryx Therapeutics | |||||||||
| Neurogene | |||||||||
| Neurotech International | |||||||||
| Taysha Gene Therapies | |||||||||
| DepYmed | |||||||||
| Alcyone Therapeutics | |||||||||
| AMO Pharma | |||||||||
| Neurocores | |||||||||
| Neurolixis | |||||||||
| Unravel Biosciences | |||||||||
| Herophilus | |||||||||
| Lucy Therapeutics | |||||||||
| Prilenia Therapeutics | |||||||||
| Shape Therapeutics | |||||||||
| Dewpoint Therapeutics | |||||||||
| Epeius Pharma | |||||||||
| Iama Therapeutics | |||||||||
| Stoke Ther / Acadia Pharma | |||||||||
| Vico Therapeutics | |||||||||
Development & Clinical Trial Status
The development of a new therapy for Rett syndrome must follow the path that regulatory bodies have established. This path follows five structured stages spanning pre-clinical and clinical research and can take 10-25 years to complete. From early discovery to post-market safety monitoring, each stage contributes vital data reviewed vigorously to ensure a new therapy is safe and effective, ultimately bringing therapies to patients.
05
Stage 5: Post-Market Safety Monitoring
The following companies have successfully completed clinical trials and received regulatory approval for a Rett syndrome treatment. As more data becomes available, regulatory agencies will continue to monitor the outcomes of patients being treated for months to years after approval.
Acadia Pharmaceutical
DAYBUE™ (trofinetide)
DAYBUE™ (trofinetide)
Status: In March 2023, the U.S. Food and Drug Administration (FDA) approved Acadia Pharmaceuticals Inc.’s investigational drug, trofinetide, for the treatment of Rett syndrome. The FDA’s approval was broad and includes all individuals with Rett syndrome – male and female – aged two and older with no upper limit. The orally administered drug, marketed under the name DAYBUE®, is commercially available via prescription in the United States. In October 2024, Health Canada also approved DAYBUE with information on availability in the country pending.
Results: Clinical data from the open-label extension LILAC-1 (40 weeks) and LILAC-2 (32 months) studies evaluating long-term safety and efficacy was published in July 2024. In both studies, patients treated with DAYBUE experienced improvement in Rett syndrome as measured by the Rett Syndrome Behaviour Questionnaire (RSBQ). In caregiver exit interviews, the most frequently reported improvements observed were engagement with others (46.2%), hand use (42.3%), and eye gaze (30.8%), with approximately 20% of participants acquiring new sounds or words. The most common adverse event was mild to moderate diarrhea (74.7% in LILAC-1 and 53.2% in LILAC-2).
A Phase 4 clinical study of real-world usage of DAYBUE called LOTUS currently enrolls participants for at least 12 months from the initiation of treatment. Six-month interim findings were presented in June 2024 at IRSF’s Scientific Meeting. The most consistently reported improvements were in nonverbal communication, alertness, and social interaction/connectedness and diarrhea and formed/normal stool were both common side effects. Some participants reported initiating therapy on doses less than half of the FDA approved dose and increasing over several weeks, with >90% of patients on full labeled dose by week 10.
Next Steps: Acadia acquired the global rights to expand access to other countries from Neuren Pharmaceuticals in July 2023. They submitted a Marketing Authorization Application (MAA) to the European Medicines Agency (EMA) to expand into the European Union (EU) in January 2025. Further expansion plans will be announced at a later date.
Recent News & Updates:
3.5.25 – Clinical Data from Open-Label DAFFODIL™ Study Evaluating Long-term Safety of DAYBUE® (trofinetide) in Patients with Rett Syndrome Published in Med
1.14.25 – Acadia Pharmaceuticals Submits Marketing Authorization Application to the European Medicines Agency for Trofinetide for the Treatment of Rett Syndrome
10.16.24 – Acadia Pharmaceuticals Announces Health Canada Approval of DAYBUE™ (trofinetide) for the Treatment of Rett Syndrome
10.1.24 – Rett Sibling Scholarship Applications Now Open (Community Letter)
7.18.24 – Clinical Data from Open-Label Extension LILAC-1™ and LILAC-2™ Studies Published in Med
6.18.24 – Real-World Evidence and Additional Data on DAYBUE presented at the 2024 IRSF Annual Scientific Meeting
6.3.24 – A Letter to the Rett Community with Updates on DAYBUE from Acadia
4.22.24 – Trofinetide New Drug Submission Accepted for Filing and Priority Review by Health Canada
7.13.23 – Acadia Acquires International Rights to Trofinetide
4.17.23 – DAYBUE™ (trofinetide) is Now Available for the Treatment of Rett Syndrome
3.10.23 – DAYBUE™ (trofinetide) Approved by FDA for the Treatment of Rett Syndrome
2.28.23 – LILAC-1 Study Topline Results Announced (Community Letter)
9.12.22 – FDA Grants Priority Review to Trofinetide
7.18.22 – ACADIA Submits NDA for Trofinetide
12.6.21 – Positive Phase 3 LAVENDER Trial Results
04
Stage 4: Drug Review
The following companies have applied to a regulatory agency like the FDA for permission to market a treatment after clinical trial results indicated the treatment is safe and effective. This stage may take 1-2 years once an NDA is submitted.
03
Stage 3: Active Clinical Trials & Research
The following companies are actively conducting clinical trials in individuals with Rett syndrome. This stage may take 6-7 years to complete the 3 phases of clinical trials depending on factors including participant recruitment, length of patient monitoring, and the clarity of results.
Status: In January 2024, Anavex announced topline results from the EXCELLENCE Phase 2/3 study in girls ages 5-17 with Rett syndrome in Australia, Canada, and the U.K. At 12 weeks, the study showed improvement that did not reach statistical significance on the key co-primary endpoint Rett Syndrome Behaviour Questionnaire (RSBQ) between treated and placebo groups and failed to meet the co-primary endpoint on the Clinical Global Impression – Improvement scale (CGI-I). There were no new SAEs reported, and over 91% of trial participants continued into the 48-week open-label study.
Anavex Life Sciences Corp. has also completed a Phase 3 adult study in Australia and the U.K., with topline results expected soon. Previously, they’ve announced that adult patients enrolled in its long-term Phase 2 clinical study in the U.S. showed statistically significant reductions in Rett syndrome severity as well as continued improvement from the drug compared to placebo patients as measured by the RSBQ over 36 weeks of treatment. The drug has previously received Fast Track designation, Rare Pediatric Disease designation, and Orphan Drug designation from the FDA for the treatment of Rett syndrome. Anavex 2-73 (blarcamesine) is an activator of the sigma-1 receptor and is taken as a liquid once a day.
Recent News & Updates:
1.2.24 – Anavex Announces Topline Results from Phase 2/3 EXCELLENCE Clinical Study in Pediatric Rett Syndrome
6.28.23 – Long-term Clinical Study Demonstrates Disease-Modifying Effects of ANAVEX®2-73 for Rett Syndrome
6.6.23 – Completion of ANAVEX®2-73 (blarcamesine) EXCELLENCE Phase 2/3 Rett Syndrome Clinical Trial
2.1.22 – ANAVEX®2-73 (Blarcamesine) AVATAR Phase 3 Trial met Primary and Secondary Efficacy Endpoints
12.15.20 – Anavex Life Sciences Announces ANAVEX®2-73 Meets Primary and Secondary Endpoints in Clinical Trial
6.5.19 – Anavex Life Sciences Announces First Patient Dosed in Phase 2 Clinical Trial of ANAVEX®2-73
DepYmed
DPM-1003
DPM-1003
Status: In March 2024, DepYmed received clearance from the U.S. FDA to initiate a Phase 1 clinical trial for DPM-1003 for the treatment of Rett syndrome. It had previously been granted Orphan Drug designation and conditionally designated under the FDA’s Rare Pediatric Disease program. DPM-1003 is an orally bioavailable small molecule inhibitor that targets the protein tyrosine phosphatase (PTP) family of enzymes that are disrupted in diseases like Rett.
Recent News & Updates:
3.19.24 – DepYmed Receives Clearance from U.S. Food and Drug Administration to Initiate Phase 1 Clinical Trial for DPM-1003 for the Treatment of Rett Syndrome
Minoryx Therapeutics
leriglitazone
leriglitazone
Status: In March 2025, Minoryx, a late-stage biotech company focused on the development of therapies for orphan central nervous system (CNS) disorders, announced the dosing of the first patient in its phase 2a clinical study of leriglitazone. Leriglitazone is a selective PPAR-γ agonist, with high oral bioavailability and CNS penetration. It showed pre-clinical proof-of-concept in Rett syndrome models by improving mitochondrial function and reducing oxidative stress and inflammation, resulting in an amelioration of the phenotype in Rett mice in both general condition and exploratory activity.
The placebo-controlled randomised TREE Study will be conducted in Spain and evaluate leriglitazone’s safety, tolerability and efficacy (assessing multiple Rett syndrome scales) over a 36-week period in 24 Rett syndrome pediatric patients up to 17 years old with confirmed MECP2 mutations.
Recent News & Updates:
Neurogene
NGN-401
NGN-401
Status: NGN-401 is a gene replacement therapy that delivers the full-length human MECP2 gene under the control of Neurogene’s EXACT™ technology. This is done through an injection directly into a ventricle in the brain where the AAV-9 virus carries the MECP2 gene to cells in the brain. This Phase 1/2 clinical trial was initially split into a low dose (1E15 vg) and high dose (3E15 vg) cohort, but the high-dose level was discontinued after a patient passed away after developing an immune response. Neurogene will continue with the low dose for all future participants in the trial, now with plans to expand enrollment to 16 females aged 4-10 years and 11 years & older.
The study will follow the patients for five years after dosing, then enroll participants in a long-term observational study for an additional 10 years. The trial is currently recruiting participants in Australia, the United Kingdom, and the U.S. (Texas Children’s Hospital, Boston Children’s Hospital, Children’s Hospital Colorado, Rush University Medical Center, and Montefiore Medical Center. They have also received Priority Medicines (PRIME) designation by the European Medicines Agency (EMA).
In November 2024, Neurogene reported positive interim efficacy data from the first four low-dose pediatric patients but reported that the 3rd patient recently dosed in the high dose cohort (3EV15 vg) experienced signs of a systemic hyperinflammatory syndrome, a rare and life-threatening immune response that has been reported with systemic exposure to high doses of AAV. On November 21, the company announced that this patient passed away as a result.
Our hearts are heavy to learn about the loss of this young girl. IRSF extends our deepest condolences to her family and loved ones during this unimaginably difficult time. We recognize the incredible courage it takes for families to participate in clinical trials, advancing research that holds the promise of a better future for all those living with Rett syndrome.
Next Steps: Neurogene amended and submitted to the FDA the clinical trial protocol to remove the 3E15 vg dose and proceed with evaluating the 1E15 vg dose. They will provide a regulatory update on registrational trial plans in the first half of 2025.
Recent News & Updates:
3.24.25 – Neurogene Reports Fourth Quarter and Full Year 2024 Financial Results and Highlights Recent Updates
11.21.24 – Community Letter
11.18.24 – Neurogene Provides Update on NGN-401 Gene Therapy Clinical Trial for Rett Syndrome | (Community Letter)
11.11.24 – Neurogene Reports Positive Interim Efficacy Data from First Four Low-Dose Pediatric Participants in NGN-401 Gene Therapy Clinical Trial for Rett Syndrome | (Community Letter)
8.7.24 – Neurogene Announces RMAT Designation for NGN-401 Investigational Gene Therapy for Rett Syndrome
6.18.24 – First Patient Dosed in High-Dose Cohort
6.3.24 – NGN-401 Gene Therapy for Rett Syndrome Selected by FDA for START Pilot Program
5.10.24 – Neurogene Received Australian HREC Approval for Trial
5.7.24 – Neurogene Presents Favorable Safety Data from Phase 1/2 Trial of NGN-401 Gene Therapy for Rett Syndrome during ASGCT Annual Meeting
3.4.24 – Neurogene expands clinical trial and removes staggered dosing protocol
1.5.24 – Updates on the U.S. pediatric trial and expansion to the U.K. from Neurogene’s Business Update and 2024 Outlook
12.19.23 – Neurogene closes merger with Neoleukin Therapeutics (Community Letter 7.18.23)
11.30.23 – 1st pediatric patients dosed in U.S. trial of NGN-401
6.12.23 – Neurogene Announces Locations & Opens Enrollment for US Gene Therapy Clinical Trial
4.18.23 – Update for Rett Syndrome Community and Clarification Concerning Trofinetide
1.23.23 – Neurogene Announces First Rett Syndrome Gene Therapy Trial in U.S.
5.18.22 – Neurogene announces new development program for Rett syndrome, NGN-401 (Community Letter)
Neurotech International
NTI164
NTI164
Status: Neurotech reported positive results from their ongoing Phase I/II clinical trial in Australia of NTI164, a broad-spectrum medical cannabinoid drug therapy for the treatment of Rett syndrome, in May 2024. After 12 weeks with no SAEs, the company reported that 93% of participants showed improvement based on the CGI-I scale and that the mean improvement from week 4 to 12 on the RSBQ was 205% in symptoms including communication, hand behaviors, anxiety/mood, and quality of life. The trial will evaluate 14 female participants with Rett syndrome ages 5-18 in Australia. An extension of the trial was announced in March 2024 with all trial participants enrolling in the 52-week extension phase. Neurotech received U.S. Orphan Drug Designation (ODD) from the FDA in November 2024 and received ODD from the European Medicines Agency’s (EMA) Committee for Orphan Medicinal Products (COMP) in March 2025.
Recent News & Updates:
3.31.25 – European Commission grants NTI164 Orphan Drug Designation for Rett Syndrome
11.26.24 – Neurotech Receives US Orphan Drug Designation in Rett Syndrome
8.30.24 – Neurotech Files for US Orphan Drug Designation in Rett Syndrome
5.6.24 – Neurotech Reports Significant Clinical Benefits and Safety in Phase I/II Rett Syndrome Clinical Trial
3.13.24 – All Phase I/II Rett Syndrome Patients to Receive NTI164 Treatment for a Total of 52 Weeks
9.26.23 – Neurotech Completes Patient Recruitment in Phase I/II Rett Syndrome Clinical Trial
3.20.23 – Neurotech to Launch Phase II Clinical Trial in Rett Syndrome
Taysha Gene Therapies
TSHA-102
TSHA-102
Status: TSHA-102 is a gene replacement therapy intended to deliver a functioning copy of MECP2 to the cells in the brain. The one-time injection into the spinal canal includes the AAV-9 virus, which carries the miniMECP2 gene product to the cells for the body to make more MeCP2 protein. TSHA-102 is currently being evaluated in the Phase 1/2 REVEAL Adolescent & Adult and REVEAL Pediatric Study in Canada, the U.K., and the U.S.
In February 2025, Taysha announced that the dosing of the 10 patients in Part A of both REVEAL trials has been completed. This included six patients in cohort two (high dose, 1×1015 total vector genomes (vg)) and four patients in cohort one (low dose, 5.7×1014 total vg). TSHA-102 was generally well tolerated with no treatment-related serious adverse events (SAEs) or dose-limiting toxicities (DLTs) in these patients as of the February 17, 2025, data cutoff. Taysha anticipates sharing more data and an update on the Part B pivotal trial design in the first half of 2025.
The FDA granted TSHA-102 Regenerative Medicine Advanced Therapy (RMAT) Designation in May 2024. In the U.K., TSHA-102 received Innovative Licensing and Access Pathway (ILAP) designation, and the Medicines and Healthcare Products Regulatory Agency (MHRA) has authorized the Clinical Trial Application (CTA) to expand into the country in Part B of the study.
Adolescent & Adult Study: Interim data shared in June 2024 from the first two patients in cohort one showed no serious adverse events (SAEs) reported at 52- and 36 weeks post-administration. The patients also showed clinical improvement in multiple clinician and caregiver-assessed efficacy measures. Clinical observations reported by the PI include new improvements in motor skills, communication/socialization, autonomic function, and seizures.
Patients in both cohorts will be evaluated over the next 60+ months. The trial is currently recruiting female participants aged 12 and older in Montreal, Canada, and as follows in the United States:
– Open for Recruitment: UC San Diego (La Jolla, CA) & Rush University Medical Center (Chicago, IL)
– Coming Soon: Boston Children’s Hospital (Boston, MA), Gillette Children’s Hospital (St. Paul, MN), & University of Texas Southwestern (Dallas, TX)
To learn more about enrolling or to express interest in the REVEAL Adult & Adolescent Phase 1/2 Study, click here.
Pediatric Study: Taysha has dosed two of six Part A female pediatric patients ages 5-8 years old in cohort one (low dose). Interim data shared in June 2024 from two female pediatric patients ages 5-8 years old in cohort one (low dose) showed no serious adverse events (SAEs) related to TSHA-102 reported at 22- and 11 weeks post-administration. The patients also showed clinical improvement in multiple clinician and caregiver-assessed efficacy measures. Clinical observations reported by the PI include new improvements in motor skills, communication/socialization, autonomic function, and seizures.
Taysha plans to expand the pediatric study to up to 21 additional patients ages 3-8 years old in Part B of the study. The trial is currently recruiting female participants aged 5-8 in Montreal, Canada, and as follows in the United States:
– Open for Recruitment: Rush University Medical Center (Chicago, IL), Gillette Children’s Hospital (St. Paul, MN), & Washington University in St. Louis (St. Louis, MO)
– Coming Soon: UC San Diego (La Jolla, CA), Boston Children’s Hospital (Boston, MA), Children’s Hospital of Philadelphia (Philadelphia, PA), Vanderbilt Kennedy Center (Nashville, TN), & University of Texas Southwestern (Dallas, TX).
To learn more about enrolling or to express interest in the REVEAL Pediatric Phase 1/2 Study, click here.
Recent News & Updates:
02.26.25 – Taysha Gene Therapies Reports Full-Year 2024 Financial Results and Provides Corporate Update
11.13.24 – Taysha Gene Therapies Reports Third Quarter 2024 Financial Results and Provides Corporate Update
8.12.24 – Updates from 2nd Quarter 2024 Financial Results
6.18.24 – Taysha Gene Therapies Announces Positive Clinical Data Across Adult and Pediatric Patients from Low Dose Cohort
5.14.24 – Corporate and Program Updates in First Quarter 2024 Financial Results
5.2.24 – Taysha Gene Therapies Announces Regenerative Medicine Advanced Therapy (RMAT) Designation Granted by U.S. FDA for TSHA-102 in Rett Syndrome
3.19.24 – Interim Clinical Data from Cohort One Shared on FY23 Financial Results Call
2.29.24 – Study expanded to adolescents and adults in the U.S. and dosing of the 1st adult cohort is complete
1.10.24 – First Pediatric Patient Dosed in U.S. Gene Therapy Clinical Trial
02
Stage 2: Pre-Clinical Research & Development
The following companies have a treatment that showed promise during the discovery stage, and is now being more vigorously tested in cell cultures and animal models following regulatory agency mandated requirements. This process lasts 3-5 years and if successful, results in an IND application to begin clinical trials.
Alcyone Therapeutics
ACTX-101
ACTX-101
ACTX-101 is an AAV9-delivered X-reactivation gene therapy for the treatment of Rett syndrome. In May 2022, Alcyone presented preclinical data showing that ACTX-101 safely and effectively reactivates the inactive X chromosome in a Rett syndrome mouse model and is safe in a preliminary nonhuman primate study.
Recent News & Updates:
5.18.22 – Alcyone Presents Preclinical Data on Gene Therapy Programs
AMO Pharma
AMO-04
AMO-04
AMO-4 is a glutamate modulator that has shown significant promise as a potential treatment for Rett syndrome based on extensive drug discovery screen in a mouse model completed through IRSF’s Scout Program. In June 2018, the U.S. FDA granted Orphan Drug Designation to AMO-04 for the treatment of Rett syndrome.
Recent News & Updates:
6.13.18 – AMO Pharma Receives FDA Orphan Drug Designation for AMO-04 in Treatment of Rett Syndrome
AMO-04 – Rettsyndrome.org Q&A
NeuroCores
KIT-13
KIT-13
KIT-13, a synthetic derivative of plasmalogen, a type of phospholipid that is present in the membranes of cells throughout the body including the brain. It has shown strong anti-inflammatory effects by inhibiting the nuclear accumulation of p65, suppressing the expression of IL-1β, and inducing phosphorylation of ERK, suggesting promise for treating Rett syndrome. KIT-13 was granted Rare Pediatric Disease Designation and Orphan Drug Designation from the U.S. FDA in March 2023.
Neurolixis
NLX-101
NLX-101
NLX-101 is a novel compound that activates serotonin 5-HT1A receptors. The administration of NLX-101 in Rett mice reduced the occurrence of apneas and normalized irregular breathing patterns without interfering with other behaviors, suggesting that NLX-101 may represent a promising strategy for treating breathing disturbances in Rett syndrome.
Recent News & Updates:
3.3.2014 – European Commission approves Orphan Medicinal Product designation for NLX-101
Unravel Biosciences
Vorinostat (RVL-001)
Vorinostat (RVL-001)
Vorinostat (RVL-001) is a small molecule oral therapeutic identified by Unravel’s proprietary drug prediction platform as potentially beneficial for patients with Rett Syndrome. In 2024, Unravel initiated clinical trial material manufacturing for use in potential clinical trials in the U.S. and Colombia and was announced as one of the drugs to be evaluated in an umbrella trial led by Dr. Jeffrey Neul at VUMC. RVL-001 was granted Orphan Drug Designation from FDA in May 2024.
Recent News & Updates:
10.28.24 -Unravel Biosciences and PECET Announce Collaboration to Conduct Clinical Trials of RVL-001 in Rett Syndrome and Pitt Hopkins Syndrome in Colombia
5.28.24 – FDA Grants Orphan Drug Designation for Vorinostat (RVL-001) as a Treatment for Rett Syndrome
5.14.24 – VUMC Umbrella Trial to Evaluate Unravel’s RVL-001
3.19.24 – Clinical Trial Material Manufacturing Initiated for Future Trials in U.S. and Colombia
2.15.2023 – Unravel Biosciences announces positive feedback from FDA pre-IND Meeting on RVL001 Rett Syndrome Program
Herophilus
Herophilus is a neurotherapeutics startup using robotic automation to “industrialize” the organoid and scale up use of the next-generation human in vitro models in drug discovery experiments for brain diseases. Its lead drug candidate is the first small molecule therapy for Rett Syndrome with the potential to reverse the root cause of the disease, MECP2 deficiency.
Lucy Therapeutics
Lucy Therapeutics is a private biotech company developing therapies based on mitochondrial small-molecule treatments and biomarkers for neurological diseases.
Recent News & Updates:
10.11.23 – Lucy Therapeutics Expands Cutting-Edge Medical Research Program with Grant from IRSF
Prilenia Therapeutics
Prilenia is continuing preclinical evaluation of pridopidine, a sigma-1 receptor (S1R) agonist with neuroprotective properties administered orally twice daily, for the treatment of Rett syndrome. It is currently in late-stage development and clinical trials for the treatment of Huntington’s disease and ALS.
Shape Therapeutics
Shape Therapeutics is a biopharmaceutical company using RNA technologies to correct genetic mutations.
01
Stage 1: Drug Discovery & Development
The following companies are in the discovery and development stage spanning basic research discoveries in the lab to tests in cell culture or animal models. This stage may include 5-10 years of testing before a new treatment can be developed further.
Dewpoint Therapeutics
Dewpoint Therapeutics is a biotechnology company that explores modulating condensates to target diseases across many therapeutic areas, including Rett syndrome.
Epeius Pharma
Epeius pharma is a cell and gene therapy company developing next generation biological vehicles for delivery of therapeutic proteins into the central nervous system (CNS). They hope to use their novel CNS delivery platform to introduce MECP2 to MECP2 deficient neurons of Rett patients.
IAMA Therapeutics
IAMA Therapeutics is a pharmaceutical company focused on the discovery, development, and commercialization of novel medicines for children affected by brain disorders.
Stoke Therapeutics / Acadia Pharmaceuticals
Stoke Therapeutics’ mission is to address the underlying cause of severe diseases by upregulating protein expression with RNA-based medicines. In January 2022, they entered into a partnership with Acadia to discover, develop and commercialize novel RNA-based medicines for the potential treatment of Rett syndrome.
Recent News & Updates:
1.10.22 – Stoke Therapeutics and Acadia Pharmaceuticals Collaborate to Pursue RNA Treatment
Vico Therapeutics
Vico Therapeutics is exploring taking an RNA editing approach to target Mecp2-R255X. Their therapeutic strategy is based on antisense oligonucleotide-mediated RNA editing to repair mutant MECP2 and reverse symptoms.
Discontinued or Canceled Clinical Programs
The following companies have terminated their Rett syndrome treatment development program.
Novartis Gene Therapies
OAV201/AVXS-201
OAV201/AVXS-201
In October 2021, Novartis terminated its Rett syndrome gene replacement program, OAV201, after pre-clinical data did not support a path forward to human clinical trials per the company’s Q3 2021 Financial Report.
Recent News & Updates:
2.8.21 – IND Submission Update (Community Letter)
8.20.20 – Additional Pre-Clinical Studies Complete (Community Letter)
8.22.19 – AveXis/Novartis Delay Trial and Withdraw IND Application for More Testing (Community Letter)
GW Pharmaceuticals
GWP42003-P
GWP42003-P
Due to the challenges presented by COVID-19, GW Pharma discontinued the ARCH Phase 3 global trial of its cannabidiol oral solution for Rett syndrome in November 2020.
Recent News & Updates:
11.12.20 – Trial Closure Announcement (Community Letter)
9.6.19 – Trial Criteria Announcement (Community Letter)
May 2019 – Trial Now Recruiting
Newron Pharmaceuticals
Sarizotan
Sarizotan
In May 2020, Newron canceled its Rett syndrome program after top-line results from its phase 2 STARS clinical study of sarizotan did not demonstrate efficacy on primary and secondary endpoints.
Recent News & Updates:
5.4.20 – Top-Line Results from STARS Study
4.12.19 – Clinical Trial Enrollment Complete & Thank You (Community Letter)
Recent Industry News
Pioneering Progress in Rett Research: IRSF Awards Nearly $2M to Fuel Bold New Science
IRSF Names Laura Hameed as Chief Executive Officer
- Neurotech
European Commission grants NTI64 Orphan Drug Designation for Rett Syndrome
- Neurogene
Neurogene Reports Fourth Quarter and Full Year 2024 Financial Results and Highlights Recent Updates
Aware That We’re Rare: The Power of Community in Rare Diseases
- Clinical, Research
IRSF Awards Nearly $2 Million in Grants to Advance Rett Research
- Acadia
Clinical Data from Open-Label DAFFODIL™ Study Evaluating Long-term Safety of DAYBUE® (trofinetide) in Patients with Rett Syndrome Published in Med
- Taysha
Taysha Gene Therapies Reports Full-Year 2024 Financial Results and Provides Corporate Update
- Acadia
Acadia Pharmaceuticals Submits Marketing Authorization Application to the European Medicines Agency for Trofinetide for the Treatment of Rett Syndrome
IRSF Leadership Update
- Neurotech
Neurotech Receives US Orphan Drug Designation in Rett Syndrome
- Neurogene
Update on Patient SAE & Discontinuation of High Dose Protocol (Community Letter)
Raising a Hand: A Journey of Healing, Hope, and Friendship
- Neurogene
Update on Patient SAE (Community Letter)
- Neurogene
Neurogene Provides Update on NGN-401 Gene Therapy Clinical Trial for Rett Syndrome
- Taysha
Taysha Gene Therapies Reports Third Quarter 2024 Financial Results and Provides Corporate Update
- Neurogene
Neurogene Community Letter
- Neurogene
Neurogene Reports Positive Interim Efficacy Data from First Four Low-Dose Pediatric Participants in NGN-401 Gene Therapy Clinical Trial for Rett Syndrome
- Acadia, Clinical, Research
DAYBUE in the Real World
- Acadia
Acadia Pharmaceuticals Announces Health Canada Approval of DAYBUE™ (trofinetide) for the Treatment of Rett Syndrome
- Acadia
Acadia Rett Sibling Scholarship Applications Now Open (Community Letter)
- Neurotech
Neurotech Files for US Orphan Drug Designation in Rett Syndrome
- Acadia, Anavex, Clinical, DepYmed, Neurogene, Research, Taysha
Transforming the Landscape of Rett Research
The International Rett Syndrome Foundation (IRSF) hosted its annual scientific meeting in Westminster, Colorado on June 18-19, 2024, as part of its ASCEND 2024 Rett Syndrome National Summit. By Mackenzie […]
IRSF Welcomes Two to Board of Directors
- Neurogene
Neurogene Announces RMAT Designation for NGN-401 Investigational Gene Therapy for Rett Syndrome
- Acadia
Clinical Data from Open-Label Extension LILAC-1™ and LILAC-2™ Studies Evaluating Long-Term Safety and Efficacy of DAYBUE™ (trofinetide) in Patients with Rett Syndrome Published in Med
- Clinical, Research
Center of Excellence Clinic Network Expanded
- Clinical, Research
IRSF Announces Expansion of Scientific Leadership
- Taysha
Taysha Gene Therapies Announces Positive Clinical Data Across Adult and Pediatric Patients from Low Dose Cohort in Ongoing REVEAL Phase 1/2 Trials Evaluating TSHA-102 in Rett Syndrome
- Neurogene
Neurogene Announces First Patient Dosed in High-Dose Cohort of NGN-401 Gene Therapy Clinical Trial for Rett Syndrome
- Acadia
Acadia Pharmaceuticals Presents DAYBUE™ (trofinetide) Real-World Evidence and Additional Data in Rett Syndrome at the 2024 International Rett Syndrome Foundation (IRSF) Annual Scientific Meeting
- Neurogene
Neurogene Announces NGN-401 Gene Therapy for Rett Syndrome Selected by FDA for START Pilot Program
- Acadia
A Letter to the Rett Community with Updates on DAYBUE
- Unravel
Unravel Biosciences Receives FDA Orphan Drug Designation for Vorinostat (RVL-001) as a Treatment for Rett Syndrome
- Unravel
Unravel Announces Collaboration with Vanderbilt University Medical Center to Support Upcoming Multicenter U.S. Clinical Study in Rett Syndrome that Includes RVL-001
- Neurogene
Neurogene Receives Australian HREC Approval for Trial
- Neurogene
Neurogene Presents Favorable Safety Data from Phase 1/2 Trial of NGN-401 Gene Therapy for Rett Syndrome during ASGCT Annual Meeting
- Neurotech
Neurotech Reports Significant Clinical Benefits and Safety in Phase I/II Rett Syndrome Clinical Trial
- Taysha
Taysha Gene Therapies Announces Regenerative Medicine Advanced Therapy (RMAT) Designation Granted by U.S. FDA for TSHA-102 in Rett Syndrome
- Acadia
Acadia Pharmaceuticals Announces Trofinetide New Drug Submission for Treatment of Rett Syndrome Has Been Accepted for Filing and Priority Review by Health Canada
Spotlight on Communication: An Interview with Dr. Theresa Bartolotta
For Theresa Bartolotta, Ph.D., CCC-SLP, good things have come through community. Bartolotta, a speech-language pathologist (SLP) with more than 40 years of clinical experience, discovered her passion for helping others […]
- Advocacy
Advocating for YOU: Rare Disease Week on Capitol Hill
IRSF works tirelessly to advocate for you and your loved one with Rett syndrome. Our work takes many forms, our persistence is often unseen, and our successes are the result […]
- Unravel
Unravel Announces Initiation of RVL001 Clinical Trial Material Manufacturing to Support Upcoming US and International Clinical Trials in Rett Syndrome
- Taysha
Taysha Shares Interim Clinical Data from Cohort One on FY23 Financial Results Call
- DepYmed
DepYmed Receives Clearance from U.S. Food and Drug Administration to Initiate Phase 1 Clinical Trial for DPM-1003 for the Treatment of Rett Syndrome
- Neurotech
All Phase I/II Rett Syndrome Patients to Receive NTI164 Treatment for a Total of 52 Weeks
- Neurogene
Neurogene Announces Expansion and Plans for More Rapid Patient Enrollment of Rett Syndrome Gene Therapy Clinical Trial
- Neurogene, Research
Neurogene Announces Expansion of Gene Therapy Clinical Trial
Today, Neurogene announced plans to expand and more rapidly enroll patients their Phase 1/2 clinical trial of investigational gene therapy NGN-401. For the full press release, click here. Key Facts: […]
- Taysha
Taysha Gene Therapies Announces Updates to TSHA-102 Clinical Program in Rett Syndrome
- Research, Taysha
Taysha Gene Therapies Adolescent & Adult Study Expanded to U.S.
Today, Taysha Gene Therapies shared several exciting updates on their REVEAL Phase 1/2 clinical trial of investigational gene therapy TSHA-102: The study will now expand to include adolescent and adult […]
My Rett Ally: Revolutionizing Care Management for Rett Families
On a recent visit to the emergency room, it took just seconds for Samantha Brant to pull up a detailed, up-to-date medication list for her daughter, Macy. Macy lives with […]
- Taysha
Taysha Gene Therapies Announces First Pediatric Patient Dosed with TSHA-102 in REVEAL Phase 1/2 Pediatric Trial in Rett Syndrome
- Research, Taysha
Taysha Gene Therapies Doses First Pediatric Patient in U.S. Gene Therapy Clinical Trial
Taysha Gene Therapies today announced the dosing of the first pediatric patient in their REVEAL Phase 1/2 trial of investigational gene therapy TSHA-102. For Taysha’s full press release, click here. […]
- Anavex
Anavex Announces Topline Results from Phase 2/3 EXCELLENCE Clinical Study in Pediatric Rett Syndrome
- Neurogene
Neurogene Announces Closing of Merger with Neoleukin Therapeutics and Concurrent Private Placement of $95 Million
- Neurogene
Neurogene Doses First Patients in Phase 1/2 Trial of NGN-401 for the Treatment of Female Pediatric Patients with Rett Syndrome
- Neurogene, Research
Neurogene Announces First Pediatric Patients Dosed in US Gene Therapy Clinical Trial
We’re excited to share that today Neurogene announced that two pediatric patients have been dosed in their Phase 1/2 trial of investigational gene therapy NGN-401. For Neurogene’s full press release, […]
- Taysha
Taysha Gene Therapies Announces Expanded Eligibility in REVEAL Phase 1/2 Adult Trial to Include Adolescent Rett Syndrome Patients
- Taysha
Early, interim data from the first two adult patients dosed shared in Taysha Q3 Financials
- Lucy
Lucy Therapeutics Expands Cutting-Edge Medical Research Program
- Taysha
Taysha Gene Therapies Announces Second Patient Dosed with TSHA-102 in the REVEAL Phase 1/2 Adult Trial for the Treatment of Rett Syndrome
- Neurotech
Neurotech Completes Patient Recruitment in Phase I/II Rett Syndrome Clinical Trial
- Taysha
Taysha Gene Therapies Announces Fast Track Designation Granted by U.S. FDA for TSHA-102 in Rett Syndrome
- Taysha
Taysha Gene Therapies Reports Initial Clinical Data from First Adult Rett Syndrome Patient Dosed in REVEAL Phase 1/2 Trial and Provides Corporate Update with Second Quarter 2023 Financial Results
- Research, Taysha
Taysha Gene Therapies Updates Community on Positive Initial Findings and Expansion of TSHA-102 Clinical Trial
Today, Taysha Gene Therapies made several exciting announcements about the progress of their REVEAL Phase 1/2 trial in Canada and the future study of their gene therapy, TSHA-102. To read […]
- Taysha
Taysha Gene Therapies Announces Positive Recommendation from Independent Data Monitoring Committee of REVEAL Phase 1/2 Trial in Rett Syndrome
Introducing My Rett Ally: A New Tool to Support Caregivers
- Acadia
Acadia Pharmaceuticals Acquires Ex-North American Rights to Trofinetide and Global Rights to Neuren’s NNZ-2591 in Rett Syndrome and Fragile X Syndrome
- Acadia, Research
Acadia Pharmaceuticals Acquires International Rights to Trofinetide
BIG NEWS for our international Rett syndrome community! Today, Acadia Pharmaceuticals announced they have acquired the rights to make trofinetide available for the treatment of Rett syndrome across the globe. […]
- Acadia
RettAway Reflections
By Samantha Brant, Family & Community Engagement Manager, and mom to Macy As I returned home from this year’s RettAway at Morgan’s Inspiration Island, my heart swelled with not only […]
IRSF Welcomes Three New Members to its Board of Directors
- Anavex
Long-term Clinical Study Demonstrates Disease-Modifying Effects of ANAVEX®2-73 for Rett Syndrome
- Taysha
Taysha Gene Therapies Provides Clinical Updates for Investigational Programs TSHA-120 in Giant Axonal Neuropathy (GAN) and TSHA-102 in Rett Syndrome at R&D Day
- Anavex, Research, Taysha
Clinical Trial Updates from Taysha & Anavex
We are excited to share news from two pharmaceutical companies working on potential treatments and cures for Rett syndrome. Taysha Gene Therapies Taysha Gene Therapies shared that they are encouraged […]
- Neurogene
Neurogene Opens Enrollment for U.S. Gene Therapy Clinical Trial (Community Letter)
- Clinical, Neurogene, Research
Neurogene Announces Locations & Opens Enrollment for US Gene Therapy Clinical Trial
We’re excited to share that today Neurogene announced the locations and began enrolling for the first U.S. Phase 1/2 clinical trial of their investigational gene therapy, NGN-401. Enrollment at Texas […]
- Anavex
Completion of ANAVEX®2-73 (blarcamesine) EXCELLENCE Phase 2/3 Rett Syndrome Clinical Trial
- Taysha
Taysha Gene Therapies Announces First Patient Dosed with TSHA-102 in the REVEAL Phase 1/2 Trial Under Investigation for the Treatment of Rett Syndrome
- Acadia
Acadia Pharmaceuticals Announces DAYBUE™ (trofinetide) is Now Available for the Treatment of Rett Syndrome
- Neurotech
Neurotech to Launch Phase II Clinical Trial in Rett Syndrome
- Acadia, Clinical, Research
A First for Rett: FDA Approves Trofinetide for Treatment of Rett Syndrome!
This first-ever treatment is approved for individuals with Rett syndrome. (Updated March 19, 2023) On March 10, 2023, Acadia Pharmaceuticals announced that their investigational drug, Trofinetide, has been approved by […]
- Acadia
Acadia Pharmaceuticals Announces U.S. FDA Approval of DAYBUE™ (trofinetide) for the Treatment of Rett Syndrome in Adult and Pediatric Patients Two Years of Age and Older
- Acadia
LILAC-1 Study Topline Results Announced (Community Letter)
IRSF Establishes Research Fund for Males with Rett Syndrome
- Unravel
Unravel Biosciences Announces Positive Feedback from FDA Pre-IND Meeting on RVL001 Rett Syndrome Program
- Anavex
ANAVEX®2-73 (Blarcamesine) AVATAR Phase 3 Trial met Primary and Secondary Efficacy Endpoints
- Taysha
Taysha Gene Therapies Provides Update on TSHA-120 Program in Giant Axonal Neuropathy and a 2023 Corporate Outlook
IRSF Awards $4.4M in Rett Syndrome Research Grants
- Neurogene
Neurogene Announces FDA Clearance of IND for NGN-401 Gene Therapy for Children with Rett Syndrome
- Neurogene, Research
Neurogene Announces First Rett Syndrome Gene Therapy Trial in U.S.
We’re excited to share that Neurogene announced today that the FDA approved their Investigational New Drug Application (IND) to launch a clinical trial for their gene therapy treatment NGN-401 in […]
IRSF Receives $500,000 Donation from Vezbi Super App
- Clinical
Flu, COVID, & RSV: A Message to our Rett Community
By Dr. Tim Benke, IRSF Medical Advisor As many of you know, the United States is currently facing the triple impact of flu, RSV, and COVID-19. These respiratory illnesses are […]
- Research, Taysha
Taysha Begins Recruitment for Gene Therapy Trial
Next Huge Milestone for Rett The last 12 months have been an unprecedented time for Rett syndrome. In December 2021, Acadia Pharmaceuticals reported that the first (and only) Phase 3 […]
- Taysha
Astellas and Taysha Gene Therapies Announce Strategic Investment to Support Development of Taysha’s AAV-based Gene Therapy Programs
- Acadia, Anavex, Clinical, DepYmed, Research, Taysha
Your Voice Matters to the FDA & Pharmaceutical Industry
By Dr. Dominique Pichard, IRSF CSO – The patient voice has increasingly become a focus for the Food and Drug Administration (FDA) in the drug development process. Thanks to years […]
- Acadia
Acadia Pharmaceuticals Announces Trofinetide New Drug Application for the Treatment of Rett Syndrome has been Accepted for Filing and Review by U.S. FDA
- Acadia, Research
FDA Grants Trofinetide Priority Review
ACADIA has shared the exciting news that the US Food and Drug Administration (FDA) has reviewed the documents received as part of the New Drug Application (NDA) for trofinetide, and […]
- Acadia
In-Person Strollathons Are Back!
In September IRSF returns with our in-person Strollathons! These nationwide fundraisers bring together local communities to go ALL IN for treatments and a cure for Rett syndrome. Since 2004, these […]
- Clinical
IRSF Expands Center of Excellence Network
The International Rett Syndrome Foundation is expanding our community’s access to best-in-class care by adding four Rett syndrome clinics to our Center of Excellence network. This expansion helps to fulfill […]
We Fund Rett Syndrome Research
Many of the treatments in the pipeline were only made possible by early-stage funding by IRSF. Help us advance the next wave of breakthroughs to treat and cure Rett syndrome.