This may be the nearest thing to a mini-miracle that we see for a long time. Is it a cure? No...it is a treatment. Could longterm treatment result in eliminationg some, many, or most symptoms? No one knows yet, but the chart shown below shows CONTINUED improvement. Since it was just approved this week it will take time to see the personal results of individuals afflicted with Rett. But in a way it would not be a miracle at all. The decades of study and dedication, and support by communities and researchers is mindblowing. These are people who truly embody the pledge to "Never Give Up". Here is the graph of progress (absence/reduction in symptomatology).
Hundreds of local residents have watched while a local family has valiantly fought this disease, and the community engaged in the fight and regular fundraising events to help the Rett Research Foundation and Acadia Pharmaceuticals find an effective treatment and ultimate cure. Meanwhile they set an incredible standard for what inclusivity means, helping to make every single step possible actually happen.
Editor's Note:
I personally did my thesis on this and autism and that was, well....I won't say how many years ago. If it does my heart this much good to see this window to the end of Rett, I can't even imagine the joy that these families are experiencing this week. Thank God for the dedicated work of the families, the community, all of the researchers and the pharmaceutical company that accomplished this.
IF you know anyone who has family or who knows someone with Rett Syndrome...PLEASE pass this news along.
Daybue is expected to be available by diagnosis and prescription in April.
THE ANNOUNCEMENT!!!
Marh 10 at 10:07 PM
BREAKING NEWS – The first-ever treatment for Rett syndrome, Trofinetide, has been approved by the FDA! This is a milestone day for the Rett syndrome community, thanks to the perseverance and commitment of you, the families, researchers, and donors who have been there every step of the way. Learn more about this historic announcement:
https://rettsyndrome.org/trofinetideapproved
In preclinical studies, deficiency in MeCP2 function has been shown to lead to impairment in synaptic communication, and the deficits in synaptic function may be associated with Rett manifestations.3,7,8. As explained below, Trofinetide increases branches of dendrites and synaptic plasticity signals,so it makes perfect seense that it helps significantly reduce the synapse issue which is at the base of most Rett symptoms.
A side-effect of digestive upset/diarrhea is frequent, and requires monitoring and supportive symptom relief.
Symptoms of Rett syndrome may also include development of hand stereotypies, such as hand wringing and clapping, and gait abnormalities.5 Most Rett patients typically live into adulthood and require round-the-clock care.2,9
About DAYBUE ™ (trofinetide)
Trofinetide is a synthetic version of a naturally occurring molecule known as the tripeptide glycine-proline-glutamate (GPE). The mechanism by which trofinetide exerts therapeutic effects in patients with Rett syndrome is unknown. In animal studies, trofinetide has been shown to increase branching of dendrites and synaptic plasticity signals.10,11