Trisomy 21: new therapeutic approaches?

Two researchers, Vincent Prevot, a neuroendocrinologist at Inserm, and Nelly Petlud, an endocrinologist at the University of Lausanne, have published the results of a test study A pilot could open up new treatment avenues for people with Down syndrome.

The latter often shows cognitive impairment, which is more or less significant and disabling. The clinical trial consisted of administering GnRH (gonadotropin-releasing hormone) for six months to people with T21 and evaluating the effect of this experimental treatment on the cognitive abilities of patients. The researchers found an improvement.

Why is this GnRH hormone?

GnRH is an already known hormone. It is secreted by certain nerve cells that are distributed in different areas of the brain during fetal development. These neurons then act in a coordinated manner and stimulate the pituitary gland through hormonal peaks. In response to these stimuli, this gland secretes other hormones – gonadotropins – involved in the development and functioning of the reproductive organs. This is why this hormone is already so commonly taken in the context of some fertility disorders, in people with GnRH deficiency.

At the beginning of embryonic development, before their migration to the brain, these secretory neurons appear in the nasal cavity. So there is a consistent relationship with the ability to perceive odors. However, it is an ability that some people with Down syndrome lose at puberty, a period when their cognitive disturbances may worsen. Moreover, the expression of GnRH is also affected by chromosome 21, which is thus abnormally present in triplicate in each of these individuals’ cells. Therefore, the association between GnRH and cognitive disorders has intrigued researchers.

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Follow-up of patients assigned to this clinical trial focused on cognitive testing and magnetic resonance imaging (fMRI scans) before and after treatment.

If researchers find improvements especially in MRI. They remain cautious, however, as biases are possible. “We can imagine, for example, that people who care for patients and want the treatment to work unconsciously affect outcomes, or that patients who know they are receiving treatment can experience a placebo effect,” he told the paper. Conversation.

Studies will continue. But, “Let’s be clear, the researchers specified: If these preliminary results look promising, we must remain very cautious. This does not mean that GnRH can completely restore the cognitive abilities of people with trisomy 21. In fact, although our work shows that GnRH plays A role in cognition, this hormone is not, by far, the primary factor in humans.”

Improving the quality, living conditions and employment of persons with disabilities should be a major concern of our society.

This week, Tibo InShape YouTuber with 9 million subscribers, posted a Testimony video A touching and informative meeting with Fatiha, a young woman with Down syndrome, has already been viewed 750,000 times.

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