This therapy represents real hope for people with trisomy 21

This therapy represents real hope for people with trisomy 21

Anchalee Phanmaha/Getty Images Close up image of microscope in the laboratory

Anchalee Phanmaha/Getty Images

A hormone could help in the repair of cognitive functions

SCIENCE – Hope for people with Down syndrome? A therapy tested on seven patients improved some of their cognitive functions. judged results “promising” that have not yet been confirmed. “The experience is very satisfactory, although we are cautious”summarized Nelly Pitteloud, head of the department of endocrinology at the University Hospital Center of Vaud (CHUV), when presenting the study published on Thursday, September 1 in the journal Science, to the press.

His hospital collaborated with a team from Inserm -within the Lille neuroscience and cognition laboratory- to test the efficacy of a therapy based on the injection of the hormone GnRH (gonadotropin-releasing hormone) in patients with trisomy 21.

“We wonder if this hormone could play a role in establishing the symptoms present in carriers of trisomy 21”, explained Vincent Prévot, director of research at Inserm. Recent discoveries have suggested that neurons that express the hormone GnRH, known to regulate reproduction through the hypothalamus, may also have an effect on cognitive functions (memory, language, reasoning, learning, problem solving, etc.).

First in mice, the laboratory established that five micro-RNA strands that regulate the production of this hormone and that are present on chromosome 21 were deregulated. The scientists were able to show that progressive cognitive and olfactory impairments in these mice were closely related to dysfunctional GnRH secretion.

Successful human tests

They then showed that reactivation of a normal GnRH system allowed cognitive and olfactory functions to be restored in mice with Down syndrome. Nelly Pitteloud’s team took over. A pilot clinical trial was conducted in seven men with Down syndrome, aged 20 to 50 years, between October 2020 and May 2022. Patients received a dose of GnRH every two hours subcutaneously for 6 months, through a bomb in the arm

Cognition and smell tests, as well as MRI examinations were performed before and after treatment. “There was an improvement of between 10% and 30% in cognitive functions, in particular visuospatial function, three-dimensional representation, understanding of instructions and attention”reeled Nelly Pitteloud.

Thus, a patient who had problems reproducing the diagram of a 3D cube before the start of treatment managed to draw a bed correctly at the end. Clinically, cognitive performance increased in 6 of 7 patients, improvements confirmed by brain imaging.

The study results are also welcomed by independent experts. calling her a “feat”Fabián Fernández, a specialist in cognition and trisomy 21 at the University of Arizona (United States), judged their results “irreproachable. »

A larger study in the fall

However, unlike the mouse, the treatment had no impact on smell. This results “promising” It must be confirmed. “The clinical work focused on only 7 male patients; to test the effectiveness of GnRH treatment in trisomy 21, we still have a lot of work to do”Nelly Pitteloud acknowledged.

The study authors acknowledge other biases, such as the presence of patients who are already highly stimulated by their parents. Now they would like to include people with more varied profiles, including some with degenerative signs such as Alzheimer’s.

In the fall, a larger study involving 50 to 60 people and a placebo is due to be launched. The researchers hope to include ” one third “ women, who should not be on contraception -the GnRH hormone that regulates reproduction- nor wish to become pregnant.

“We are not going to cure the cognitive disorders of people with Down syndrome, but in our results, improvement already seems quite essential to hopefully increase their quality of life”Nelly Pitteloud rejoiced.

See also in The HuffPost: Suffering from Charcot disease, William films himself to “leave a trace. »

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