Ravi Savarirayan

Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study

Ravi Savarirayan, Louise Tofts, Melita Irving, William R Wilcox, Carlos A Bacino, Julie Hoover-Fong, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Michael B Bober, Lynda E Polgreen, Ignacio Ginebreda, Klaus Mohnike, Joel Charrow, Daniel Hoernschemeyer, Keiichi Ozono, Yasemin Alanay, Paul Arundel, Yumiko Kotani, Natsuo Yasui, et al.

Journal article  |  2021  |  GENETICS IN MEDICINE

PURPOSE: Achondroplasia is caused by pathogenic variants in the fibroblast growth factor receptor 3 gene that lead to impaired end..

Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history

Julie Hoover-Fong, Moira S Cheung, Virginia Fano, Lars Hagenas, Jacqueline T Hecht, Penny Ireland, Melita Irving, Klaus Mohnike, Amaka C Offiah, Ericka Okenfuss, Keiichi Ozono, Cathleen Raggio, Louise Tofts, Dominique Kelly, Renee Shediac, Wayne Pan, Ravi Savarirayan

Journal article  |  2021  |  BONE

Achondroplasia, the most common form of disproportionate short stature, is caused by a variant in the fibroblast growth factor rec..

Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia

Ravi Savarirayan, David E Tunkel, Laura M Sterni, Michael B Bober, Tae-Joon Cho, Michael J Goldberg, Julie Hoover-Fong, Melita Irving, Shawn E Kamps, William G Mackenzie, Cathleen Raggio, Samantha A Spencer, Viviana Bompadre, Klane K White

Journal article  |  2021  |  ORPHANET JOURNAL OF RARE DISEASES

BACKGROUND: Recognition and appropriate management of the craniofacial manifestations of patients with skeletal dysplasia are chal..

Rationale, design, and methods of a randomized, controlled, open-label clinical trial with open-label extension to investigate the safety of vosoritide in infants, and young children with achondroplasia at risk of requiring cervicomedullary decompression surgery

Ravi Savarirayan, Melita Irving, Wirginia Maixner, Dominic Thompson, Amaka C Offiah, Daniel JA Connolly, Ashok Raghavan, James Powell, Marcin Kronhardt, George Jeha, Sajda Ghani, Elena Fisheleva, Jonathan RS Day

Journal article  |  2021  |  SCIENCE PROGRESS

Achondroplasia causes narrowing of the foramen magnum and the spinal canal leading to increased mortality due to cervicomedullary ..

A cost-effectiveness and utility analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

A Yeung, NB Tan, TY Tan, Z Stark, N Brown, MJ Hunter, M Delatycki, C Stutterd, R Savarirayan, G McGillivray, R Stapleton, S Kumble, L Downie, M Regan, S Lunke, B Chong, D Phelan, G Brett, A Jarmolowicz, Y Prawer, et al.

Conference Proceedings  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Novel therapeutic approaches for the treatment of achondroplasia

Laurence Legeai-Mallet, Ravi Savarirayan

Journal article  |  2020  |  BONE

Achondroplasia is the most common form of human dwarfism. The molecular basis of achondroplasia was elucidated in 1994 with the id..

Cardiovascular risk factors and body composition in adults with achondroplasia

Svein O Fredwall, Jennifer Linge, Olof Dahlqvist Leinhard, Lisa Kjonigsen, Heidi Beate Eggesbo, Harald Weedon-Fekjaer, Ingeborg Beate Lidal, Grethe Manum, Ravi Savarirayan, Serena Tonstad

Journal article  |  2020  |  GENETICS IN MEDICINE

PURPOSE: An increased cardiovascular mortality has been reported in achondroplasia. This population-based, case-control study inve..

A Randomized Controlled Trial of Vosoritide in Children with Achondroplasia

Ravi Savarirayan, Louise Tofts, Melita Irving, William Wilcox, Carlos Bacino, Julie Hoover-Fong, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Michael Bober, Lynda Polgreen, Ignacio Ginebreda, Klaus Mohnike, Joel Charrow, Daniel Hoernschmeyer, Keiichi Ozono, Yasemin Alanay, Paul Arundel, Shoji Kagami, Natsuo Yasui, et al.

Conference Proceedings  |  2020  |  JOURNAL OF BONE AND MINERAL RESEARCH

A community-based co-designed genetic health service model for Aboriginal Australians

Imogen Elsum, Libby Massey, Callum McEwan, Desiree LaGrappe, Emma Kowal, Ravi Savarirayan, Gareth Baynam, Misty Jenkins, Gail Garvey, Margaret Kelaher

Journal article  |  2020  |  PLOS ONE

BACKGROUND: Aboriginal and Torres Strait Islander people experience a greater burden of disease and die younger than non-Indigenou..

Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial

Ravi Savarirayan, Louise Tofts, Melita Irving, William Wilcox, Carlos A Bacino, Julie Hoover-Fong, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Michael B Bober, Lynda E Polgreen, Ignacio Ginebreda, Klaus Mohnike, Joel Charrow, Daniel Hoernschemeyer, Keiichi Ozono, Yasemin Alanay, Paul Arundel, Shoji Kagami, Natsuo Yasui, et al.

Journal article  |  2020  |  LANCET

BACKGROUND: There are no effective therapies for achondroplasia. An open-label study suggested that vosoritide administration migh..