Medizinische Klinik und Poliklinik IV
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  5. Congenital adrenal hyperplasia (AG Reisch)

Congenital adrenal hyperplasia (AG Reisch)

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:


PREDICT - PREnatal Dexamethasone In CAH Therapy                                                                                                                                          International Phase II Clinical Trial

PREDICT evaluates the efficacy and safety of a pharmacokinetic-guided low-dose prenatal dexamethasone regimen for the prevention of virilisation in female fetuses with classic congenital adrenal hyperplasia (CAH), compared with the traditional high-dose approach.

Study Design

  • Randomised: 7.5 µg/kg/day vs. 20 µg/kg/day
  • Additional non-randomised observational cohort (untreated affected pregnancies)
  • Treatment initiation < 8+0 weeks gestation
  • Maternal and fetal assessment during pregnancy and at birth
  • Child follow-up at 24 months of age

Inclusion Criteria

  • Adult pregnant women with confirmed risk of classic CAH in the fetus (pathogenic CYP21A2 variants in both parents)
  • Gestational age < 8+0 weeks (calculated from the last day of the menstrual period)
  • Written informed consent

Key Exclusion Criteria

  • Chronic systemic corticosteroid therapy unrelated to CAH
  • Concomitant medication affecting glucocorticoid metabolism
  • Twin or multiple pregnancy
  • Pre-pregnancy weight < 50 kg or > 95 kg
  • History of malignancy (except adequately treated basal cell carcinoma)
  • Participation in another clinical trial within 3 months prior to enrolment

Recruitment

Recruitment started in 2025 at two German study sites (Charité – Universitätsmedizin Berlin and LMU University Hospital Munich) and is expected to continue for 10 years. International expansion is planned for 2026; additional sites in Italy, France, and Poland are currently in preparation.                                                                                                                                                                                                                              Detailed trial information, including the complete list of inclusion and exclusion criteria, is available in the CTIS EU Clinical Trials Register under trial number 2024-511702-23-00. Access detailed study information via: https://euclinicaltrials.eu/ctis-public/view/2024-511702-23-00.



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.


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



Mitarbeiter

PI/ Leitung: Prof. Dr. Nicole Reisch

Medizinische Klinik und Poliklinik IV
Ziemssenstraße 1 80336 München
089 4400 52101

Biography:

Nicole Reisch qualified in Medicine at the University of Rostock and Albert-Ludwigs- Universität Freiburg i.Breisgau, Germany, in 2002. Four years later she obtained an academic MD degree with distinction. After her core medical training she trained in Endocrinology from 2003-2008 at the University Hospital Freiburg, Germany and the University Hospital of Munich (LMU). Supported by a Postdoctoral Research Fellowship for career development she then spent two years in the Centre for Endocrinology of the College of Medical and Dental Sciences at the University of Birmingham, UK. Following her return to Munich in 2010 she worked as Clinical scientist before she became assistant Professor at the Dept of Endocrinology at University Hospital of Munich (LMU) in 2014.

2017 she obtained the Heisenberg-Professorship and was appointed Professor for Endocrinology.


Qualifications:

since 2017            Heisenberg-Professorship (W2), Endocrinology, Medizinische Klinik IV, Munich, Germany

2014-2017            Assistant Professor at Dept of Endocrinology, Medizinische Klinik und Poliklinik IV, Munich

2015                      Habilitation, Venia legendi Internal Medicine

2014                      Board certificate Internal Medicine, Endocrinology, Diabetology

2008                      British Medical License: GMC-UK

2006                      MD (Dr. med.) with distinction (summa cum laude)

1996-2002            Studies of Medicine (1996-2002)


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.


Other activities:

Since 2020          vice president of the German Society of Endocrinology (DGE)

Since 2017          national Coordinator Endo ERN (European Reference Network in Rare Endocrine Conditions)

Since 2017          endo ERN Chair Main Thematic Group Adrenal

Since 2017          member of the Project Governing Board of EuRRECa (European Registries for Rare Endocrine Conditions)

Since 2008          medical advisor to the German Congenital Adrenal Hyperplasia patient support group (AGS-Eltern- und Patienteninitiative e.V.)


Scientific Stuff:

Dr. med. Matthias Auer- Clinician Scientist: https://pubmed.ncbi.nlm.nih.gov/?term=Matthias+Auer

Orsela Dervishi- Clinician Scientist

Dr. med. Christian Lottspeich- Clinician Scientist: https://pubmed.ncbi.nlm.nih.gov/?term=Christian+Lottspeich

Dr. med. Hanna Franziska Nowotny- Clinician Scientist: https://pubmed.ncbi.nlm.nih.gov/33661460/

Dr. rer. nat. Annie Miriam Sriramachandran – Postdoctoral Researcher

Dr. med. Lea Tschaidse- Clinician Scientist

Dr. med. Amelie Ziefer – Clinician Scientist


Study Nurses:

Birgit Deml

Pia Franziska Gebhardt

Medical Laboratory Technologist:

Fatemeh Promoli

Medical doctoral candidates (rotating positions)

Kontakt

Medizinische Klinik und Poliklinik IV

Ziemssenstraße 1
80336 München
089 4400 52237