“Pathophysiology and therapeutic challenges of Congenital Adrenal Hyperplasia”, Dr. Gerard Babot, IFCAH and AFM Funding: 150 000 €  (AFM Partnership)

Adrenal glands are essential for life. Located above the kidneys, adrenals control fundamental bodily functions through hormone production. Inability to produce adrenal hormones results in adrenal insufficiency, a life-threatening disorder that can cause chronic fatigue, muscle weakness, loss of appetite and weight loss. Current treatments for patients with adrenal insufficiency involved lifelong hormone replacement therapy, which can lead to significant side effects. Therefore, the ability to generate in the laboratory hormone-producing cells could be used as a cell source to replace the faulty cells from the patients suffering from adrenal insufficiency. This research intents to develop methodologies to generate cells capable of producing hormones in the laboratory (called organoids) to treat patients affected by adrenal insufficiency in the future.

“The epidemiology of congenital adrenal hyperplasia: a nationwide study.”, Dr. Claus Gravholt, IFCAH funding: 100 000 €

Individuals suffering from congenital adrenal hyperplasia (CAH) often suffer from additional medical health problems. However, our knowledge concerning long-term outcomes of CAH per se, as well as of its treatment, is sparse. To increase our understanding hereof, we will use the Danish national registries holding complete individual-level data of the Danish population, in order to make a systematic description of morbidity, mortality and socioeconomic outcomes in all CAH diagnosed individuals in Denmark from the 1970’s and onwards in a comparison to the Danish background population. To make the description as precise as possible, clinical data such as genetic diagnosis, phenotypical characteristics, clinical biochemistry and medical treatment will be integrated in the analyses. Finally, we will validate the Danish model of neonatal CAH screening. The study will provide a far better understanding of CAH, which will be extremely valuable to ensure CAH individuals a long and healthy life.

“In vivo characterisation of ACTH receptor antagonists.”, Dr. Li Chan (UK), IFCAH funding: 100 000 €

Adrenocorticotropin (ACTH) is a hormone released from the pituitary gland in the brain which stimulates the adrenal gland, above the kidneys, to produce steroid hormones. Too much ACTH, results in too much steroid hormone production which leads to many harmful side effects including a risk of death. At present, there is no effective medicine that would directly block the action of ACTH. Such a drug would be of great clinical value. We previously identified a number of small molecules that have the potential to block ACTH action, with further testing these molecules can be used to treat diseases with ACTH excess.