Reverse Transcriptase Inhibitors in AGS

• Status: Completed
• Trial end date: 2018-06-01
• Target enrollment: 0
• Participant gender: All

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.

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Assistance Publique - Hôpitaux de Paris
• Treatments: Abacavir; Lamivudine; Reverse Transcriptase Inhibitors; Zidovudine

Criteria

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