Therapeutic Areas

Adrenal Cortical Carcinoma (ACC)

Adrenal cortical carcinoma, or cancer of the adrenal cortex, is a rare disease caused by the growth of cancer cells in the adrenal cortex, the outer layer of the adrenal gland.

The adrenal cortex produces hormones that regulate essential functions in the body including response to stress, control of blood pressure and metabolism.

A malignant tumor of the adrenal cortex may be functional (makes more hormones than normal) or non-functional (does not make more hormones than normal). About 50-60% of adrenocortical tumors are functioning.¹

A non-functional adrenal cortical carcinoma may not cause symptoms in the early stages.

A functioning adrenal cortical carcinoma increases the production of some hormones. There are many signs and symptoms of functioning adrenocortical carcinoma, depending on which hormone(s) is/are involved.

¹ European Society of Endocrinology Clinical Practice Guidelines on the management of adrenocortical carcinoma in adults, in collaboration with the European Network for the Study of Adrenal Tumors. Fassnacht 2018

Lambert-Eaton Myasthenic Syndrome (LEMS)

LEMS, a debilitating neuromuscular syndrome, is a rare autoimmune disorder in which the immune system attacks the neuromuscular junction, interfering with the ability of nerve cells to send signals to muscle cells. LEMS generally affects the extremities, causing muscle weakness, especially in the legs and hips, which can ultimately lead to difficulty walking. Weakness in the eye muscles and those involved in talking, swallowing, and chewing may also occur. LEMS may be associated with small-cell lung cancer, where its onset precedes or coincides with the cancer diagnosis. While the prevalence of LEMS in children is not known, the disease is estimated to affect 2.8 per million worldwide1 and can occur at any age.

National Organization for Rare Disorders, https://rarediseases.org/rare-diseases/lambert-eaton-myasthenic-syndrome/

Urea Cycle Disorders (UCD)

UCDs are caused by a deficiency of one of the enzymes in the urea cycle, which is responsible for the removal of ammonia, a potent neurotoxin, from the body. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is removed from the blood and converted to urea, which is excreted in the urine. In UCDs, the nitrogen removal is blocked, and it accumulates in the form of ammonia. Left untreated, UCDs can cause dangerously increased levels of ammonia in the bloodstream (hyperammonemia) resulting in brain damage, coma and, if untreated, death.

Fifteen years of urea cycle disorders brain research : Looking back, looking forward