Status:
COMPLETED
Inhibition of Reverse Transcription in Aicardi-Goutières Syndrome
Lead Sponsor:
University of Edinburgh
Collaborating Sponsors:
NHS Lothian
Medical Research Council
Conditions:
Aicardi-Goutières Syndrome
Eligibility:
All Genders
3-15 years
Phase:
PHASE2
Brief Summary
Aicardi-Goutières syndrome (AGS) is a disease of children, particularly affecting the brain and the skin. There is a close link between AGS and increased amounts of a chemical called interferon. Norma...
Detailed Description
Aicardi-Goutières syndrome (AGS) is a severe childhood disease of the brain associated with very high levels of a chemical called type I interferon. Normally humans only produce interferon when they a...
Eligibility Criteria
Inclusion
- Patients with mutations in any of TREX1, the three components of the RNase H2 complex (RNASEH2A, RNASEH2B, RNASEH2C: considered as one genotype) or SAMHD1.
- Greater than age 3 months and less than 16 years of age at the time of recruitment
- Resident in the United Kingdom (UK)
- Informed Consent obtained from parent or personal legal representative
- For inclusion in the study, a patient has either to have completed the vaccination programme two weeks prior to starting the trial, or remain unvaccinated until the end of the trial, or agree to defer vaccination until immediately after a study drug arm, so that there is a period of at least two weeks following vaccination and before the start of the following drug arm.
Exclusion
- Patients with AGS due to mutations in ADAR1 and IFIH1 will not be considered, given that the induction of interferon relating to these genotypes does not involve a reverse transcription step.
- Pre-existing disease, not due to AGS, which would preclude the use of zidovudine, lamivudine and abacavir
- Patients with abnormally low neutrophil counts (\<0.75 x 109/l) and / or abnormally low haemoglobin levels (\<7.5 g/dl)(particularly relevant to zidovudine), significant renal (creatinine clearance \< 50 ml/min; particularly relevant to lamivudine) or significant hepatic impairment (particularly relevant to abacavir; avoid if Child Pugh \> 5)
- Participation in another Clinical Trial of an Investigational Medicinal Product (CTIMP) trial
- Pregnancy
- Breast feeding
- Hepatitis B and C infection
- Potential hypersensitivity to abacavir, assessed according to HLA-B\*5701 status
- Hypersensitivity to the active substances or to any of the excipients listed in section 6.1 of the Summary of Product Characteristics (SPC)
- Where, in the opinion of the Investigator the participant cannot fulfil the requirements of the trial protocol
Key Trial Info
Start Date :
August 24 2022
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
March 11 2024
Estimated Enrollment :
13 Patients enrolled
Trial Details
Trial ID
NCT04731103
Start Date
August 24 2022
End Date
March 11 2024
Last Update
May 9 2024
Active Locations (1)
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1
Yanick Crow
Edinburgh, United Kingdom