Inhibition of Reverse Transcription in Aicardi-Goutières Syndrome
Status:
Not yet recruiting
Trial end date:
2023-01-01
Target enrollment:
Participant gender:
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. Normally humans only produce interferon when they are infected with a virus. In
AGS, there is no viral infection. Instead, the cells in the cells of affected patients are
confused into thinking that their own genetic material is coming from a virus. As a result
they produce interferon all the time, which acts as a poison that damages the cells. The
Investigators wish to treat AGS patients with drugs called reverse transcriptase inhibitors
(RTIs), used to fight the HIV-1 virus that causes AIDS. The investigators will monitor the
effect of treatment on interferon levels, and look at other markers which might give us clues
to how the drugs are working. The trial is funded by the Medical Research Council, and
involves experts based in Edinburgh, Birmingham, Manchester and Great Ormond Street Hospital.