Status:
WITHDRAWN
Reverse Transcriptase Inhibitors in Aicardi Goutières Syndrome
Lead Sponsor:
Children's Hospital of Philadelphia
Collaborating Sponsors:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
National Human Genome Research Institute (NHGRI)
Conditions:
Aicardi Goutières Syndrome
Eligibility:
All Genders
2-18 years
Phase:
PHASE1
PHASE2
Brief Summary
The overall objectives are to explore the safety and efficacy of Reverse Transcriptase Inhibitors Tenofovir (TDF)/ Emtricitabine (FTC) administered in AGS affected children 2 to 18 years of age.
Detailed Description
The investigators propose that a trial to assess the proof of principle that antiretroviral therapy through a drug combination of Tenofovir (TDF) and Emtricitabine (FTC) can decrease endogenous retroe...
Eligibility Criteria
Inclusion
- Molecular, neuroimaging, and clinical findings consistent with a diagnosis of AGS, with the exception of Double-stranded RNA-specific adenosine deaminase (ADAR1) and IFIH1, which are not postulated to result in nucleic acid accumulation
- Evidence of interferon activation such as elevation of CSF neopterin/tetrahydrobiopterin measured on the first evaluation.
- Ages 2-18 years (the age of 2 years is used because the drugs are FDA approved in children greater than 2 years)
- Weight of at least 10 kg
- Willingness to undergo serial lumbar punctures and blow draws for evaluation of laboratory based outcome measures
- Willingness to abstain from initiating the use of immune modulating therapies including corticosteroids
- Able to receive medications orally, by nasogastric (NG) tube or by Gastric (G)-tube
- No concomitant illness which would preclude safe participation as judged by the investigator
- Signed informed consent by the subject's legally acceptable representative
- Negative testing for HIV
- Negative testing for Hepatitis B
- Concurrent enrollment in the Myelin Disorders Biorepository Project (MDBP, ClinicalTrials.gov NCT03047369) and willingness to undergo associated procedures
Exclusion
- Age \< 2 years or \>18 years
- Hepatic insufficiency with liver function tests greater than 3-times the upper limit of normal
- Renal insufficiency with creatinine clearance \<60
- Significant malabsorption
- Any clinical or laboratory abnormality or medical condition that, at the discretion of the investigator, may put the subject at an additional risk by participating in this study
- HIV infection
- Hepatitis B infection
- Mutations in ADAR1 or IFIH1
Key Trial Info
Start Date :
December 1 2025
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
December 1 2029
Estimated Enrollment :
Patients enrolled
Trial Details
Trial ID
NCT03304717
Start Date
December 1 2025
End Date
December 1 2029
Last Update
May 1 2025
Active Locations (0)
Enter a location and click search to find clinical trials sorted by distance.
No Results Found
We couldn’t find results for the location/zipcode entered or within the selected range. Please check your input or adjust your search.