Moorfields visit

Our visit to Moorfields today was technically a success. Emotionally, it was difficult, more for Charlotte than I - she really didn't like her blood draw. Poor kid. The numbing cream didn't seem to work, or if it was working, it would have been even worse without.
I got to talk to the Dr who is running this project. What they are doing right now is a genotype and phenotype "catalogue" of patients with Achromatopsia.

The interesting points about the future trials are:


- they expect to start towards the end of this year. Certainly within 12 months.

- the first trial will be of 12 patients but could be extended or rolled into a second trial vey quickly.

- they will be taking patients as young as 3 but the majority will be in their 20s and 30s.

- even 20 and 30 year olds are expected to benefit to some extent.

- having one treatment would not preclude a patient from having further treatments.

- children with Leber's, in a current study, have not had as good results as adults; they suspect this is because children, who have healthier retinas, are not receiving enough of the virus to overcome the diseased genes and be effective

- as I expected, the safety issues would be mostly around the procedure itself. The vitreous fluid would be drained which is incredibly routine, the retina would be encouraged to detach, which is normally not encouraged, but expected to recover within 24 hours. Risk of infection and other surgical risks would apply.

- they expect that Charlotte would be treated as part of a trial rather than as part of a proven treatment.

Next steps:
- visit a Dr in Leicester who has a handheld retinal imaging machine which is effective at getting a good image in children.
- wait 3 months for the results of the test to determine if Charlotte does, in fact, have the gene they are looking to treat.