hrp0095p1-118 | Growth and Syndromes | ESPE2022

A background review of several generic patient-reported outcome and clinician-reported outcome measures: Selecting measures for further evaluation in a qualitative study in achondroplasia.

D. Mathias Susan , Hoover-Fong Julie , Savarirayan Ravi , Cho Terry , Lee Anne , H. Colwell Hilary , Rogoff Daniela , Muslimova Elena

Objectives: No validated achondroplasia (ACH)-specific patient reported outcome (PRO) or clinician-reported outcome (ClinRO) measures are available. A detailed review of generic PRO and ClinRO measures was performed to select relevant tools for further evaluation in a qualitative study.Methods: Published literature describing medical challenges and impacts among children with ACH was reviewed to identify important concep...

hrp0094p2-284 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Associations between height and health-related quality of life (HRQoL) and functional independence in children with achondroplasia

Irving Melita , Savarirayan Ravi , Arundel Paul , Polgreen Lynda E. , Mohnike Klaus , Ozono Keiichi , Saunders Michael , Fisheleva Elena , Huntsman-Labed Alice , Day Jonathan

Background and Objectives: Achondroplasia (ACH) is characterized by severe short stature with a height deficit of approximately 6 SDS below that of average stature. Our objective was to evaluate the impact of height deficit on health-related quality of life (HRQoL) and functional independence in children with ACH.Methods: Height Z-score, HRQoL, and functional independence data were obtained from children with ACH who enr...

hrp0094p2-332 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Evaluating Safety, Efficacy, and Pharmacokinetics of Weekly TransCon CNP in Children with Achondroplasia: Design of the ACcomplisH Trial

McDonnell Ciara , Irving Melita , Zarate Yuri , B. Hove Hanne , Hogler Wolfgang , Hoernschemeyer Daniel , Zhang Ying , Viuff Dorthe , Hartoft-Nielsen Marie-Louise , Beckert Michael , Savarirayan Ravi ,

Achondroplasia (ACH) is the most common form of dwarfism, occurring in 1: 20,000 births. ACH is caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene that interfere with endochondral ossification. Clinically significant morbidities are frequent in ACH; however, there are currently no approved therapies that target the underlying pathobiology. C-type natriuretic peptide (CNP) is an attractive target as it has the potential to inhi...

hrp0095p1-327 | Growth and Syndromes | ESPE2022

A comprehensive assessment of patient-reported outcome measures in children and parents of children with achondroplasia: Results from a qualitative research and mapping exercise.

D. Mathias Susan , Hoover-Fong Julie , Savarirayan Ravi , Crews Chandler , Alves Inês , Noval Susan , Haider Amer , Cho Terry , Lee Anne , H. Colwell Hilary , Muslimova Elena

Objectives: Individuals with achondroplasia (ACH) experience medical, emotional and functional detriments during their lifetime. A comprehensive research initiative was conducted to include combined concept elicitation (CE) and cognitive debriefing (CD) interviews and mapping of concepts to identify the most relevant available patient-reported outcome (PRO) measures for inclusion in studies of ACH.Methods: Combined CE/CD...

hrp0089fc15.6 | Growth and Syndromes | ESPE2018

Vosoritide for Children with Achondroplasia:a 30 Month Update from an Ongoing Phase 2 Clinical Trial

Irving Melita , Hoover-Fong Julie , Bacino Carlos , Charrow Joel , Cormier-Daire Valerie , Dickson Patti , Harmatz Paul , Labed Alice Huntsman , Jayaram Kala , Jeha George , Day Jonathan , Larimore Kevin , Phillips John , Savarirayan Ravi

Objectives: Achondroplasia (ACH), caused by a mutation in the fibroblast growth factor receptor 3 gene (FGFR3), leads to inhibition of endochondral bone growth. Vosoritide is a biological analogue of C-type natriuretic peptide (CNP), a potent stimulator of endochondral bone growth. A Phase 2, open-label, sequential cohort, dose-escalation study was conducted to evaluate the safety, tolerability, and efficacy of vosoritide for 24 months in children with ACH aged 5&#150...

hrp0094p1-125 | Growth A | ESPE2021

PROPEL2: a phase 2, open-label, dose-escalation and dose-expansion study of infigratinib in children with achondroplasia (ACH)

Savarirayan Ravi , Arundel Paul , Bergua Josep Maria De , McDevitt Helen , Cormier-Daire Valerie , Saraff Vrinda , Skae Mars , Santos-Simarro Fernando , Salles Jean Pierre , Rossi Massimiliano , Kannu Peter , Bober Michael B. , III John Phillips , Saal Howard , Harmatz Paul , Meireles Ana Beleza , Cho Terry , Muslimova Elena , Weng Richard , Rogoff Daniela , Irving Melita ,

Background: ACH, the most common short-limbed skeletal dysplasia, is characterized by defective endochondral ossification resulting from gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, a negative regulator of endochondral bone formation. Current treatment options are non-targeted, ineffective, or painful interventions aimed at preventing or treating complications. Infigratinib is an orally bioavailable and selective...

hrp0094p1-130 | Growth A | ESPE2021

Study design and baseline characteristics of children enrolled in PROPEL: A prospective clinical assessment study in children with achondroplasia (ACH)

Savarirayan Ravi , Bergua Josep Maria De , Arundel Paul , Salles Jean Pierre , Leiva Antonio , Saraff Vrinda , McDevitt Helen , Santos-Simarro Fernando , Cormier-Daire Valerie , Kannu Peter , Skae Mars , Bober Michael B. , III John Phillips , Burren Christine , Harmatz Paul , Saal Howard , Weng Richard , Muslimova Elena , Cho Terry , Rogoff Daniela , Irving Melita ,

Background: ACH is the most common short-limbed skeletal dysplasia, affecting between 1 in 15,000 to 1 in 30,000 live births. Children and adults with ACH have disproportionate short stature, with a final height of approx. 131 cm for males and 124 cm for females. People with ACH are prone to significant co-morbidities, including obstructive sleep apnea, chronic otitis media with conductive hearing loss, spinal stenosis, and a propensity towards obesity. In som...

hrp0095p1-306 | Growth and Syndromes | ESPE2022

Bone age in children with achondroplasia.

Savarirayan Ravi , Maria De Bergua Josep , Arundel Paul , Pierre Salles Jean , Leiva-Gea Antonio , Irving Melita , Saraff Vrinda , McDevitt Helen , Nicolino Marc , Cormier-Daire Valerie , Kannu Peter , Skae Mars , B. Bober Michael , Phillips III John , Burren Christine , Harmatz Paul , Saal Howard , Hoover-Fong Julie , Muslimova Elena , Cho Terry , Weng Richard , Rogoff Daniela

Background: Bone age (BA) is commonly used in pediatrics to define skeletal maturity for medical and non-medical purposes. Normal range is represented by 2 standard deviations (SDs) above and below the mean. A BA greater than ±2 SDs from the chronological age (CA) is considered abnormal. BA in achondroplasia (ACH) has not been fully characterized; calculation is challenging given difficulties in comparing x-rays with standard radiographs if using the Greuli...