What side effects are associated with this type of intervention?

Common side effects of gene therapy for Rett Syndrome, such as TSHA-102, include immune reactions, where the body may attack the introduced genetic material, leading to inflammation or other immune responses. There is also a risk of insertional mutagenesis, which can disrupt other important genes and potentially lead to cancer or other genetic disorders. Side effects related to the delivery method, such as infections or reactions at the injection site, may also occur.

What prior FDA approvals exist?

As of now, there are no FDA-approved gene therapies specifically for Rett Syndrome. The investigational gene therapy TSHA-102 is currently being studied in clinical trials to evaluate its safety and efficacy. Traditional treatments for Rett Syndrome have focused on managing symptoms and improving quality of life, rather than addressing the underlying genetic cause. These treatments include medications for seizures, muscle stiffness, and breathing irregularities, as well as supportive therapies such as physical, occupational, and speech therapy.

What other types of research exist?

Promising alternatives to TSHA-102 for Rett Syndrome patients include: 1) Antisense oligonucleotide (ASO) therapies, which aim to modify RNA to correct genetic mutations. 2) MECP2 gene reactivation strategies, which focus on reactivating the silenced MECP2 gene on the inactive X chromosome. 3) Pharmacological treatments targeting specific symptoms or pathways, such as trofinetide, which has shown positive results in clinical trials. 4) Neuroprotective agents and modulators of synaptic function, which aim to improve neuronal health and connectivity.

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Gene Therapy

Gene Therapy (TSHA-102) for Rett Syndrome

Phase 1 & 2

Recruiting

Research Sponsored by Taysha Gene Therapies, Inc.

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Participant has a clinical diagnosis of classical/typical Rett syndrome with a documented pathogenic mutation of the methyl-CpG-binding protein 2 (MECP2) gene that results in loss of function.

Must not have

Participant requires invasive ventilatory support.

Participant has a MECP2 mutation that does not cause Rett syndrome.

Timeline

Screening 3 weeks

Treatment Varies

Follow Up up to 5 years

Awards & highlights

No Placebo-Only Group

Summary

This trial is testing a new gene therapy called TSHA-102 in adult women with Rett syndrome. The therapy aims to fix the genetic problems causing the disorder by adding healthy genes to their cells. Researchers will study its safety and effectiveness over several years. TSHA-102 is a gene therapy aimed at addressing the genetic deficiencies in Rett syndrome by adding healthy MECP2 genes to the cells.

Who is the study for?

This trial is for adult females with classical Rett syndrome confirmed by a specific MECP2 gene mutation. Candidates must be open to blood transfusions if needed and cannot require invasive breathing support, have uncontrolled seizures, other progressive genetic syndromes, significant brain injuries affecting the nervous system, or abnormal development in early infancy.

What is being tested?

The REVEAL Adult Study tests TSHA-102, a gene therapy for Rett syndrome in women. It's an early-stage trial to see how safe it is and how well it works at two different doses over up to 63 months.

What are the potential side effects?

As this is an investigational gene therapy study focusing on safety and tolerability, potential side effects are not fully known but may include reactions related to the drug infusion process or lumbar puncture procedure.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

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I have Rett syndrome with a confirmed MECP2 gene mutation.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:

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I need a machine to help me breathe.

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I have a MECP2 mutation, but it doesn't cause Rett syndrome.

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I have had a brain injury that affects my nervous system.

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I have been diagnosed with atypical Rett syndrome.

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I have a neurodevelopmental disorder not related to MECP2 mutation.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ up to 5 years

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~up to 5 years

This trial's timeline: 3 weeks for screening, Varies for treatment, and up to 5 years for reporting.

Treatment Details

Awards & Highlights

No Placebo-Only Group

All patients enrolled in this study will receive some form of active treatment.

Trial Design

2Treatment groups

Experimental Treatment

Group I: Cohort 2Experimental Treatment1 Intervention

Dose Level 2

Group II: Cohort 1Experimental Treatment1 Intervention

Dose Level 1

0 / 6Eligibility criteria met

Research Highlights

Information in this section is not a recommendation. We encourage patients to speak with their healthcare team when evaluating any treatment decision.

Mechanism Of Action

Side Effect Profile

Prior Approvals

Other Research

Rett Syndrome is a genetic disorder caused by mutations in the MECP2 gene. The most common treatments aim to address the symptoms and underlying genetic causes. Gene therapy, such as the investigational TSHA-102, introduces or modifies genetic material to correct the defective MECP2 gene. This approach is significant because it targets the root cause of Rett Syndrome, potentially offering more effective and long-lasting benefits compared to symptomatic treatments. By restoring normal MECP2 function, gene therapy could improve neurological function and overall quality of life for patients.