IRSF has announced the first clinical trial for a drug which might help with the symptoms of Rett Syndrome. The clinical trial is funded with $200,000 presumably from all the fundraisers that parents and friends have put on over the past few years. The clinical trial is for a drug which is a FDA approved drug called Increlex which is used to treat people who are short, it’s a human growth hormone.
I spent some time reading the original paper from MIT which talked about mice which have Rett Syndrome who were given the growth hormone and how much better the mice did with the human growth hormone. There were 9 areas that saw improvement, including locomotion, breathing patterns, cardiac patterns, life span, and brain weight. All this is encouraging, however, the scientists were also quick to note that all the mice still developed all the symptoms of Rett and did also have a shortened life span, albeit longer than the life span of mice with Rett and without treatment.
I also noticed in the MIT paper, that the drug was first administered when the mice were 2 weeks old and that it was a daily injection. I presume that at 2 weeks old, the mice were pre-regression – that the drug was given before all the definitive symptoms appeared in the Rett mice. Most human patients (Edda included) with Rett develop normally for about 18 months and then there is regression or loss of skills – something that Rett has in common with autism. So I don’t know if the drug will do anything for Edda as she is post-regression, but I’m eager to hear how the clinical trial goes. It would be great to have some alleviation of some of the symptoms.