Reverse Transcriptase Inhibitors in Aicardi Goutières Syndrome

17-013715

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.

2024-12-01

2028-12-01

2028-12-01

Not yet recruiting

Early phase I

34

Inclusion Criteria: * 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 Criteria: * 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

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2024-01-05