I am not sure if this article has been posted before. Apologies if it has.
Some background reading for the potential ROW market size for Rett Syndrome.
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1st analysis of global Rett prevalence may help in trial planning
Study sets new estimate of 7.1 cases per 100,000 females worldwide
by Joana Vindeirinho, PhD | March 22, 2023
https://rettsyndromenews.com/news/1st-analysis-rett-syndrome-prevalence-may-help-trial-planning/
"For the meta-analysis, the team used 10 pooled studies that included more than 9 million women and 673 people with Rett syndrome. These studies showed individual estimates compatible with a prevalence range of about 5 to 10 cases per 100,000 female individuals."
“This is the first systematic review and meta-analysis of [Rett syndrome] that reports pooled prevalence of RTT in the general female population,” the researchers wrote."
"The pooled prevalence estimate was 7.1 cases of Rett syndrome for each 100,000 female individuals, which is in line with previous estimates. Although the included studies did not cover many world regions, the results “encompassed the prevalence estimates from several nations and covered many different patient populations,” the researchers wrote."
There was significant variability in the individual estimates of each study, which ranged from 0 cases per 100,000 females to 38.3. However, according to the scientists, most of the variability stemmed from some studies with imprecise estimates.
Despite the significant variability, an analysis of the confidence level of each pooled estimate showed that they were all compatible with a prevalence range of about 5 to 10 cases per 100,000 females.
“Interestingly, most estimates from the European region were of similar orders of magnitude as those from China and Australia,” the research team wrote.
The lack of greater geographic spread was another limitation of the study, and the researchers noted their surprise in the absence of studies from the U.S. done after 1999.
Overall, the findings “suggest that the prevalence [of Rett] remained stable for the last 20 years in the range of 5 to 10 cases per 100,000 females, without substantial regional variability,” the researchers concluded.
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The article mentions the following study:"
Systematic review update Open AccessPublished: 16 January 2023
Global prevalence of Rett syndrome: systematic review and meta-analysis
Uarda Petriti, Daniel C. Dudman, Emil Scosyrev & Sandra Lopez-Leon
Systematic Reviews volume 12, Article number: 5 (2023) Cite this article
https://systematicreviewsjournal.biomedcentral.com/articles/10.1186/s13643-023-02169-6
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Previous estimates article link mentions in the article:
The portal for rare diseases and orphan drugs
Rett Syndrome
https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=91&Disease_Disease_Search_diseaseGroup=rett-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Rett-syndrome&title=Rett%20syndrome&search=Disease_Search_Simple
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