Research

The focus of Prof. Reisch’s research is on congenital gonadal and adrenal disorders. In particular, Prof. Reisch is a leading international expert in congenital adrenal hyperplasia (CAH). CAH is one of the most common diseases in the group of rare diseases with an incidence of 1:10,000 to 1:15,000. Since the introduction of glucocorticoid replacement therapy sixty years ago, CAH has been regarded as a prototype for a treatable genetic disease and, later, for genetic screening in human populations. It is a disease that is relevant for endocrinologists, geneticists, gynaecologists, urologists, (paediatric) surgeons as well as psychologists. For many years CAH was considered a paediatric disease. Only quite recently has the focus shifted also to adult patients and clinicians have begun to realise the substantial morbidity and increased mortality in patients with CAH.

Main research topics

• Molecular mechanisms of CAH

Protein misfolding and protein-protein interactions as molecular pathophysiological background in congenital adrenal hyperplasia (CAH) potentially offering novel therapeutic options with pharmacological chaperons

• Natural history and outcome of CAH

From research of health care provision to evidence based medicine: Natural history, outcome and comorbidities in CAH as examples for effects and side effects of glucocorticoids and sex steroids

• Novel medical treatment of CAH
• Novel diagnostic procedures of CAH

Clinical Studies:

Chronocort:

• International Phase III study
• Study of efficacy, safety and tolerability of Chronocort® compared with standard glucocorticoid replacement therapy in the treatment of congenital adrenal hyperplasia
• The first orphan drug for CAH
• Sponsor: Diurnal Ltd

Tildacerfont 203:
International Phase II b study

Dose-Ranging Study to Evaluate the Efficacy and Safety of SPR001 (Tildacerfont) in Adult Subjects with CAH

Tildacerfont: a potent and highly selective small-molecule antagonist of CRF type 1 (CRF1) receptors in the pituitary gland, is being studied for the treatment of CAH on the basis of its ability to block the CRF signal produced by the hypothalamus, thereby decreasing ACTH overproduction by the pituitary and reducing excess accumulation of downstream adrenal hormones

Sponsor: Spruce Biosciences, Inc.

 

Tildacerfont 204:

• International Phase II b study
• Study to Evaluate the Efficacy and Safety of SPR001 (Tildacerfont) in Reducing Supraphysiologic Glucocorticoid Use in Adult Subjects with CAH
• Tildacerfont: a potent and highly selective small-molecule antagonist of CRF type 1 (CRF1) receptors in the pituitary gland, is being studied for the treatment of CAH on the basis of its ability to block the CRF signal produced by the hypothalamus, thereby decreasing ACTH overproduction by the pituitary and reducing excess accumulation of downstream adrenal hormones.
• Sponsor: Spruce Biosciences, Inc.

Crinecerfont:

• International Phase III study
• Study to Evaluate the Safety and Efficacy of Crinecerfont (NBI-74788) in Adult Subjects with Classic Congenital Adrenal Hyperplasia
• Crinecerfont: A selective corticotropin-releasing hormone receptor 1(CRF1) antagonist that is being developed as a novel oral treatment of congenital adrenal hyperplasia associated with high adrenocorticotropin and adrenal steroid insufficiency.
• Sponsor: Neurocrine Biosciences, Inc.

PREDICT

• International Phase II dose finding study
• Confirmatory clinical trial
• Study to determine the efficacy and safety of a pharmacokinetic-based low dose of prenatal dexamethasone in preventing female prenatal virilisation in CAH.