EEG and Evoked Potentials for Rett Syndrome

Recruiting at 5 trial locations

Overseen By Holly Dubbs, MS. CGC

Age: < 65

Sex: Female

Trial Phase: Academic

Sponsor: Children's Hospital of Philadelphia

Must not be taking: Neuroactive medications

Disqualifiers: MECP2 duplication, Other mutations, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: 5

202 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial aims to identify new markers that might help track or understand Rett Syndrome, a rare neurological disorder. Researchers seek to determine if these markers change with symptoms and remain stable when symptoms do not. Participants will undergo an EEG test, which measures brain activity, and the results will be compared with those of typically developing individuals. The study seeks girls with Rett Syndrome or a specific genetic variant associated with it, as well as typically developing girls with no cognitive issues.

As an unphased study, this research offers participants the opportunity to contribute to a deeper understanding of Rett Syndrome, potentially leading to better diagnostic tools in the future.

What prior data suggests that this EEG method is safe for participants?

In a previous study, researchers examined how well people tolerated certain treatments for Rett Syndrome. For example, one study on the drug Trofinetide found it was generally safe. Some participants reported side effects, but these were mostly mild. Another study on the gene therapy NGN-401 also showed that young girls with Rett Syndrome tolerated the treatment well.

This particular study does not involve a new treatment. Instead, it uses an electroencephalogram (EEG) to measure brain activity. EEGs are non-invasive, meaning they don't involve surgery or entering the body, and are commonly used in medical settings. They are considered safe and usually do not cause any harm or discomfort.

Overall, research suggests that the methods used in this study are safe for participants. Those considering participation should consult with their doctor to understand any personal health considerations. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about the trial on neurophysiologic biomarkers in Rett Syndrome because it aims to uncover new ways to understand this complex condition. Unlike existing treatments that primarily address symptoms like seizures or breathing issues, this study seeks to identify specific biomarkers that could lead to earlier diagnosis and personalized treatment strategies. By focusing on neurophysiologic changes, researchers hope to pave the way for innovative therapeutic approaches that could improve quality of life for those with Rett Syndrome.

Who Is on the Research Team?

Eric Marsh, MD, PhD

Principal Investigator

Children's Hospital of Philadelphia

Jeffrey Neul, MD, PhD

Principal Investigator

Vanderbilt University Medical Cener

Are You a Good Fit for This Trial?

Inclusion Criteria

Rett females: Ages 1-18 (inclusive) with a clinical diagnosis of RTT with a likely pathogenic or known pathogenic variant in MECP2.

Typically developing (TD) females: Age matched to RTT population (1-18) with no developmental or cognitive concerns as assessed using the Child/Adult Behavioral Checklist, Ages and Stages questionnaire (<5yo), or the Wide Range Achievement Test-4 (>5 yo).

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Assessment

Participants undergo EEG and Evoked Potentials measurements to identify neurophysiological biomarkers

5 years

Regular assessments over 5 years

Follow-up

Participants are monitored for stability and changes in biomarkers over time

5 years

What Are the Treatments Tested in This Trial?

How Is the Trial Designed?

Group I: RTT Females Experimental Treatment 2 Interventions

Females with Rett Syndrome

Group II: Controls Experimental Treatment 1 Intervention

Females with typical development

Who Is Running the Clinical Trial?

Children's Hospital of Philadelphia

Lead Sponsor

Trials

749

Recruited

11,400,000+

National Institute of Neurological Disorders and Stroke (NINDS)

Collaborator

Trials

1,403

Recruited

655,000+

Vanderbilt University Medical Center

Collaborator

Trials

922

Recruited

939,000+

Citations

1.

pmc.ncbi.nlm.nih.gov

pmc.ncbi.nlm.nih.gov/articles/PMC11282812/

Characterizing the journey of Rett syndrome among ...

This study characterized females with RTT in the United States and their disease journey with respect to longitudinal treatment patterns, RTT-related outcomes,

2.

ir.tayshagtx.com

ir.tayshagtx.com/news-releases/news-release-details/taysha-gene-therapies-announces-positive-clinical-data-across

Taysha Gene Therapies Announces Positive Clinical Data ...

Rett syndrome primarily occurs in females and is one of the most common genetic causes of severe intellectual disability. Currently, there are ...

3.

ir.neurogene.com

ir.neurogene.com/news-releases/news-release-details/neurogene-reports-positive-interim-efficacy-data-first-four-low

Release Details

Neurogene reports positive interim efficacy data from first four low-dose pediatric participants in NGN-401 gene therapy clinical trial for Rett syndrome.

4.

clinicaltrials.gov

clinicaltrials.gov/study/NCT06152237

Safety and Efficacy of TSHA-102 in Pediatric Females With ...

... females with Rett Syndrome. The safety, tolerability, and preliminary efficacy of two dose levels will be evaluated. The study duration is up to 6 years ...

5.

sciencedirect.com

sciencedirect.com/science/article/pii/S2666634024002538

Article Trofinetide for the treatment of Rett syndrome

Females aged 5–22 years who completed LILAC were eligible to enter LILAC-2. Safety and tolerability were assessed with the incidence of adverse ...