New drug therapy brings hope for kids with chronic hormone deficiency

The new therapy has been developed by Diurnal, a University of Sheffield company

A new drug therapy, developed at a university in the United Kingdom, has brought hope for children suffering from paediatric adrenal insufficiency, a condition caused by the lack of the stress hormone, cortisol. The condition is rare, but can be fatal. 

The University of Sheffield, UK, has developed Alkindi, the “first replacement therapy” for infants, children and adolescents who suffer from paediatric adrenal insufficiency. The new therapy has been developed by Diurnal, a University of Sheffield company. According to a statement from the university, the most common form of pediatric adrenal insufficiency is the genetic condition called congenital adrenal hyperplasia (CAH). 

Those with CAH have adrenal glands that produce excessive amount of androgens, instead of cortisol and aldosterone. Studies say that the classical form of CAH leads to pre-natal genital masculinisation and gender dysphoria in patients suffering from the condition. This more severe form of the disease is usually detected in infancy or early childhood. Symptoms in infants include ambiguous genitalia in girls, enlarged penis in boys, poor weight gain, weight loss, dehydration and vomiting.

In the non-classical form, chromosomal females born with normal genitalia becoming symptomatic only during adolescence, causing hirsutism (unwanted hair pattern growth in women), acne, menstrual irregularity and rarely, gender dysphoria. In India, kids with CAH are given daily hydrocortisone replacements. However, until now, there has been no approved paediatric product to administer the life-saving treatment. Parents currently have to crush adult tablets, making it very difficult to control the dosage level, researchers from the university say.

Richard Ross, Professor of Endocrinology, University of Sheffield and Chief Scientific Officer of Diurnal said, “Cortisol is an essential stress hormone, and without it, if you have a stressful event, such as an infection or a trauma you will die from an adrenal crisis. Administering adult tablets to babies and young children is a real challenge for parents who have to crush the tablets and then suspend them in water.”

Ross said that the inaccuracy can lead to children having too little steroid, which causes an adrenal crisis, or too much steroid, which causes a number of long term problems including thin bones, thin skin and hypertension.

Alkindi was specially designed using a technology called multi-particulates—small cellulose beads coated with hydrocortisone and covered in a taste-masking layer which hides the bitter taste of hydrocortisone. Using multi-particulates means doctors can provide the accurate small doses required for neonates that can then be increased as the child grows. “A normal adult tablet of hydrocortisone is 10 milligrams, but Alkindi makes it possible to administer doses as low as 0.5 milligrams for neonates,” Ross said in a statement.

The new therapy has been granted market authorisation by the European Medicine Agency and is available to patients in the UK.