Reverse Transcriptase Inhibitors in AGS (NCT02363452) | Clinical Trial Compass
CompletedPhase 2
Reverse Transcriptase Inhibitors in AGS
France11 participantsStarted 2015-09-10
Plain-language summary
The purpose of this study is to determine if treatment with reverse transcriptase inhibitors returns the interferon signature observed in patients with AGS to normal levels.
Who can participate
Age range1 Month – 17 Years
SexALL
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion Criteria:
* A molecular diagnosis of AGS i.e. biallelic or known dominant mutations, with pathogenicity assessed using our extensive mutation database / functional data, in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C and SAMHD1 genes
* A pre-defined interferon signature (consistently present, moderate or high, on at least three occasions, over a period of 6 months prior to enrolment in the study)
* Age ≥ 1 month and \< 18 years (either sex)
* Patient beneficiary or affiliated to " health insurance"
* Written informed consent
Exclusion Criteria:
* Pre-existing disease, not due to AGS, which would preclude the use of zidovudine, Lamivudine and abacavir (as currently assessed in routine clinical HIV-related practice)
* HLA B57-01 positive result, which indicates a greater risk of abacavir hypersensitivity reaction
* Patients with abnormally low neutrophile counts (\<0.75 x 109/l), or abnormally low haemoglobin levels (\<7.5 g/dl or 4.65 mmol/l)(zidovudine contraindication)
* Positive serology for HIV, HBV
* Known history of cirrhosis and history of clinically relevant hepatitis within last 6 months
* Moderate to severe renal impairment
* Pregnancy, breastfeeding
* Patient participating to a biomedical research with drug
What they're measuring
1
Interferon signature
Timeframe: Before and after 12 months of treatment