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ey0021.8-11 | Clinical Trials – New Treatments | ESPEYB21

8.11. Phase 3 Trial of Crinecerfont in Pediatric Congenital Adrenal Hyperplasia

K Sarafoglou , MS Kim , M Lodish , EI Felner , L Martinerie , NJ Nokoff , M Clemente , PY Fechner , MG Vogiatzi , PW Speiser , RJ Auchus , GBG Rosales , E Roberts , GS Jeha , RH Farber , JL Chan , Investigators Cahtalyst Pediatric Trial

Brief Summary: This phase 3, multinational, randomized clinical trial (CAHtalyst, NCT04806451) in pediatric patients with CAH, evaluated the efficacy of crinecerfont to improve androgen control and enable GC dose reduction to a physiological range.Comment: Congenital adrenal hyperplasia (CAH) comprises several rare autosomal recessive conditions resulting in disordered adrenal steroidogenesis. Pathogenic variants in the CYP21A2 gene encoding ste...

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ey0017.5-1 | Novel Treatments for Rare Skeletal Disorders | ESPEYB17

5.1. C-Type natriuretic peptide analogue therapy in children with achondroplasia

R Savarirayan , M Irving , CA Bacino , B Bostwick , J Charrow , V Cormier-Daire , KH Le Quan Sang , P Dickson , P Harmatz , J Phillips , N Owen , A Cherukuri , K Jayaram , GS Jeha , K Larimore , ML Chan , A Huntsman Labed , J Day , J Hoover-Fong

To read the full abstract: N Engl J Med. 2019 Jul 4;381(1):2535.In brief: Inhibition of endochondral ossification in Achondroplasia leads to disproportionate short stature. In this phase 2 study, daily subcutaneous injection of vosoritide, a biologic analogue of C-type natriuretic peptide and a potent stimulator of endochondral ossification, results in sustained increase in t...

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ey0016.2-2 | Neonatal Hypoglycaemia | ESPEYB16

2.2. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals

KL Yap , AEK Johnson , D Fischer , P Kandikatla , J Deml , V Nelakuditi , S Halbach , GS Jeha , LC Burrage , O Bodamer , VC Benavides , AM Lewis , S Ellard , P Shah , D Cody , A Diaz , A Devarajan , L Truong , SAW Greeley , DD De Leon , AC Edmondson , S Das , P Thornton , D Waggoner , D Del Gaudio

To read the full abstract: Genet Med. 2019 Jan;21(1):233242.This study documented the clinical features and molecular diagnoses of 9 infants with persistent hyperinsulinism and Kabuki syndrome via a combination of sequencing and copy-number profiling methodologies.KS is characterized by typical facial features (long palpebral fissures with eversion of the lat...

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ESPE Yearbook of Paediatric Endocrinology

8.11. Phase 3 Trial of Crinecerfont in Pediatric Congenital Adrenal Hyperplasia

5.1. C-Type natriuretic peptide analogue therapy in children with achondroplasia

2.2. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals

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