Medizinische Klinik und Poliklinik IV
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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:

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.

Mitarbeiter

PI/ Leitung: Prof. Dr. Nicole Reisch

Medizinische Klinik und Poliklinik IV
Ziemssenstraße 1 80336 München
089 4400 52390 E-Mail

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.)


Publications:

Out of 95 pubmed listed journal articles, H-index: 26.

PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=Nicole+Reisch

  1. Claahsen-van der Grinten HL, Stikkelbroeck N, Falhammar H, Reisch N. MANAGEMENT OF ENDOCRINE DISEASE: Gonadal dysfunction in congenital adrenal hyperplasia (CAH). Eur J Endocrinol. 2020 Dec 1:EJE-20-1093.R1. doi: 10.1530/EJE-20-1093. Epub ahead of print. PMID: 33320831.
  2. Auer MK, Paizoni L, Hofbauer LC, Rauner M, Chen Y, Schmidt H, Huebner A, Bidlingmaier M, Reisch N. Effects of androgen excess and glucocorticoid exposure on bone health in adult patients with 21-hydroxylase deficiency. J Steroid Biochem Mol Biol. 2020 Nov;204:105734. doi: 10.1016/j.jsbmb.2020.105734. Epub 2020 Aug 9. PMID: 32784048.
  3. Paizoni L, Auer MK, Schmidt H, Hübner A, Bidlingmaier M, Reisch N Effect of androgen excess and glucocorticoid exposure on metabolic risk profiles in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Steroid Biochem Mol Biol. 2020 Mar;197:105540. doi: 10.1016/j.jsbmb.2019.105540. Epub 2019 Nov 12.
  4. Reisch N Review of Health Problems in Adult Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Exp Clin Endocrinol Diabetes. 2019 Feb;127(2-03):171-177. doi: 10.1055/a-0820-2085. Epub 2019 Feb 27.PMID: 30812049 Review
  5. Reisch N, Taylor AE, Nogueira EF, Asby DJ, Dhir V, Berry A, Krone N, Auchus RJ, Shackleton CHL, Hanley NA, Arlt W Alternative pathway androgen biosynthesis and human fetal female virilization Proc Natl Acad Sci U S A. 2019 Oct 29;116(44):22294-22299. doi: 10.1073/pnas.1906623116. Epub 2019 Oct 14.PMID: 31611378.
  6. Liedmeier A, Jendryczko D, van der Grinten HC, Rapp M, Thyen U, Pienkowski C, Hinz A, Reisch N. Psychosocial wellbeing and quality of life in women with Turner syndrome. Psychoneuroendocrinology. 2020 Mar;113:104548. doi: 10.1016/j.psyneuen.2019.104548. Epub 2019 Dec 23. PMID: 31923612.
  7. Auer M, Krumbholz A, Bidlingmaier M, Thieme D, Reisch N Steroid 17-hydroxyprogesterone in hair is a potential long-term biomarker of androgen control in congenital adrenal hyperplasia due to 21-hydroxylase deficiency Neuroendocrinology. 2019 Nov 12. doi: 10.1159/000504672. Online ahead of print.PMID: 31711056
  8. Bausch B, Schiavi F, Ni Y, Welander J, Patocs A, Ngeow J, Wellner U, Malinoc A, Taschin E, Barbon G, Lanza V, Söderkvist P, Stenman A, Larsson C, Svahn F, Chen JL, Marquard J, Fraenkel M, Walter MA, Peczkowska M, Prejbisz A, Jarzab B, Hasse-Lazar K, Petersenn S, Moeller LC, Meyer A, Reisch N, Trupka A, Brase C, Galiano M, Preuss SF, Kwok P, Lendvai N, Berisha G, Makay Ö, Boedeker CC, Weryha G, Racz K, Januszewicz A, Walz MK, Gimm O, Opocher G, Eng C, Neumann HPH; European-American-Asian Pheochromocytoma-Paraganglioma Registry Study Group. Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention. JAMA Oncol. 2017 Sep 1;3(9):1204-1212. doi: 10.1001/jamaoncol.2017.0223. PMID: 28384794; PMCID: PMC5824290.
  9. Jones CM, Mallappa A, Reisch N, Nikolaou N, Krone N, Hughes BA, O'Neil DM, Whitaker MJ, Tomlinson JW, Storbeck KH, Merke DP, Ross RJ, Arlt W. Modified-Release and Conventional Glucocorticoids and Diurnal Androgen Excretion in Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. 2017 Jun 1;102(6):1797-1806. doi: 10.1210/jc.2016-2855. PMID: 27845856; PMCID: PMC5470768.
  10. Reisch N, Rottenkolber M, Greifenstein A, et al. Testicular adrenal rest tumors develop independently of long-term disease control: a longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2013;98(11):E1820-E1826. doi:10.1210/jc.2012-318


Wissenschaftliche Mitarbeiter:

Dr. Matthias Auer

https://pubmed.ncbi.nlm.nih.gov/?term=Matthias+Auer

Dr. Christian Lottspeich

https://pubmed.ncbi.nlm.nih.gov/?term=Christian+Lottspeich

Hanna Franziska Nowotny

https://pubmed.ncbi.nlm.nih.gov/33661460/

Lea Tschaidse

Wei Zhang

https://pubmed.ncbi.nlm.nih.gov/30352420/

Study Nurses:

Magdalena Maurer

Ann-Christin Welp

Labor Mitarbeiter:

Bouamar Eddaoudi

Fatemeh Promoli


Kontakt

Medizinische Klinik und Poliklinik IV

Ziemssenstraße 1
80336 München
089 4400 52390 E-Mail