Trisomy 21: a hormone with exciting results [OPINION]


This is progress, not yet a revolution. There is no question, for the moment, of speaking of the discovery of a “treatment for trisomy 21”. But the results of the study conducted by a Franco-Swiss team are nevertheless staggering. Seven male volunteers with Down syndrome, aged 21 to 20, agreed to take part in this pioneering trial, with the support of their relatives. The principle: a hormonal treatment intended to improve their cognitive abilities. After six months of treatment, a very clear increase in neuronal connections between certain areas of their brain was observed in each. Six of them saw their cognitive abilities increase by 50 to 10%. Following this test, the connections between certain areas of the brain seem to have been modified and improved, and this for all patients.

Further clinical testing is now needed. following this first trial coordinated by Professor Nelly Pitteloud, head of the endocrinology department of the Vaudois hospital center in Lausanne (Switzerland). But what was the system implemented to achieve these first encouraging results? A small pump, quite similar to the one used by diabetics for their insulin injections, intermittently delivered to the seven participants in this trial, a dose of a hormone called GnRH (Gonadotropin-releasing hormone). It was the Lille teams of the neurosciences and cognition laboratory directed by Vincent Prévot who had initiated this hormonal track. These researchers had in fact identified the fact that certain genes linked to the regulation of GnRH are located precisely on chromosome 21. Their working hypothesis, which will be verified: there is a link between the dysfunction of GnRH and the difficulties of learning or even cognitive impairment. By reviving normal secretion of this hormone, the researchers will even be able to restore cognitive performance in "trisomic" mice comparable to those of "non-trisomic" mice. The meeting between the Lille researcher and the Swiss doctor in 2019 will convince them to try this approach on patients with Down syndrome, with respect for ethics, families, and of course patients.

In view of the good results obtained, and despite the absence of a placebo group, the principle of a larger trial has already been approved. Are the changes obtained lasting or should the delivery of hormones be continued? This study will undoubtedly make it possible to find out, and if necessary to expand the use of the GnRH pump to improve the daily lives of people with Down syndrome.

Judikael Hirel 

source: Alliance Vita

This article is published from Selection of the day.

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