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Lamivudine as a Novel Clinical Effort for Rett Syndrome

NCT07640503 · Status: ENROLLING_BY_INVITATION · Phase: PHASE2 · Type: INTERVENTIONAL · Enrollment: 10

Last updated 2026-06-10

No results posted yet for this study

Summary

Rett syndrome (RTT) is a rare genetic neurodevelopmental disorder caused primarily by mutations in the MECP2 gene, leading to progressive impairments in motor function, communication, and behavior following an initial period of apparently typical development. Currently, there are no treatments that change the course of the disease, and clinical care is largely focused on managing symptoms. Loss of MeCP2 function has been associated with increased activity of the LINE-1 (L1) retroelement, which may contribute to neuroinflammation and cellular stress in the brain. Lamivudine, a nucleoside reverse transcriptase inhibitor widely used in antiviral therapy, can inhibit L1 reverse transcription and has shown beneficial effects in preclinical models of RTT, including reductions in inflammatory and oxidative stress markers and improvements in neurological and behavioral outcomes. This study aims to evaluate the safety and potential clinical and biological effects of lamivudine in individuals with Rett syndrome using a before-and-after treatment design. Participants will receive oral lamivudine and will undergo clinical assessments and laboratory testing before and after the treatment period to evaluate changes in symptom severity, functional status, quality of life, seizure activity, and biomarkers related to inflammation and neurodevelopment. Biological samples will also be collected to support translational laboratory studies aimed at improving understanding of disease mechanisms and treatment response in RTT. Results from this study may help determine whether lamivudine is a safe and promising therapeutic option and may guide future clinical research in this population.

Conditions

Interventions

DRUG

Lamivudine

Lamivudine will be given orally to participants with Rett syndrome using weight-based dosing after baseline clinical and laboratory assessments. Children \<14 kg will receive oral solution at 4 mg/kg twice daily (max 300 mg/day). Participants ≥14 kg will receive tablets by weight: 14-20 kg, 150 mg/day; 20-25 kg, 225 mg/day; \>25 kg, 300 mg/day. Medication may be taken with or without food. Tablets should not be crushed unless swallowing is difficult. If needed, they may be crushed and mixed with liquid or soft food and taken immediately, or oral solution may be used. Caregivers will be instructed on dosing and concomitant medications. Treatment lasts 24 weeks with weekly safety, tolerability, and efficacy monitoring. Dose adjustment or discontinuation may occur if significant adverse events arise.

Sponsors & Collaborators

Principal Investigators

  • Maria Denise Fernandes Carvalho de Andrade, MD, PhD · Universidade Estadual do Ceara

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
2 Years
Sex
FEMALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-11-05
Primary Completion
2027-06-30
Completion
2027-12-31
FDA Drug
Yes

Countries

  • Brazil

Study Locations

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Diseases
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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07640503 on ClinicalTrials.gov