Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p31 | (1) | ICCBH2019

Determinants of survival in osteogenesis imperfecta (OI) Type II

Nadar Ruchi , Saraff Vrinda , Hogler Wolfgang , Desai Maya , Shaw Nick

Introduction: In 1979 Sillence described Type II OI as perinatal lethal. We report two children whose features were consistent with Type II OI who survived beyond infancy. Both have mutations previously reported in cases of lethal OI.Case 1: This girl was born full term, small for gestational age (SGA) following antenatal detection of short bowed femora. Skeletal survey showed multiple long bone fractures and a small chest with beaded ribs. A COL1A2 gene...

ba0007p31 | (1) | IMPE2023

Determinants of survival in osteogenesis imperfecta (OI) Type II

Nadar Ruchi , Saraff Vrinda , Hogler Wolfgang , Desai Maya , Shaw Nick

Introduction: In 1979 Sillence described Type II OI as perinatal lethal. We report two children whose features were consistent with Type II OI who survived beyond infancy. Both have mutations previously reported in cases of lethal OI.Case 1: This girl was born full term, small for gestational age (SGA) following antenatal detection of short bowed femora. Skeletal survey showed multiple long bone fractures and a small chest with beaded ribs. A COL1A2 gene...

ba0007p32 | (1) | ICCBH2019

Successful use of oral acetazolamide in symptomatic subcutaneous calcifications in hyperphosphatemic tumoral calcinosis

Nadar Ruchi , Saraff Vrinda , Randell Tabitha , Ryan Fiona , Shaw Nick , Hogler Wolfgang

Introduction: Hyperphosphatemic familial tumoral calcinosis is a rare genetic disorder causing reduced FGF23 activity. Recurrent and occasionally disabling subcutaneous calcifications are major disease manifestations. We describe the successful use of acetazolamide in two cases presenting in childhood with a homozygous GALNT3 mutation.Case 1: A five year old girl developed tender subcutaneous calcifications in the right elbow which were surgically resect...

ba0007p32 | (1) | IMPE2023

Successful use of oral acetazolamide in symptomatic subcutaneous calcifications in hyperphosphatemic tumoral calcinosis

Nadar Ruchi , Saraff Vrinda , Randell Tabitha , Ryan Fiona , Shaw Nick , Hogler Wolfgang

Introduction: Hyperphosphatemic familial tumoral calcinosis is a rare genetic disorder causing reduced FGF23 activity. Recurrent and occasionally disabling subcutaneous calcifications are major disease manifestations. We describe the successful use of acetazolamide in two cases presenting in childhood with a homozygous GALNT3 mutation.Case 1: A five year old girl developed tender subcutaneous calcifications in the right elbow which were surgically resect...

ba0007p72 | (1) | ICCBH2019

Burosumab experience in UK X-linked hypophosphataemia children under five years old

Dharmaraj Poonam , Burren Christine , Cheung Moira S , Padidela Raja , Mughal Zulf , Shaw Nick , Saraff Vrinda , Nadar Ruchi , Randell Tabitha , Mushtaq Talat , Ramakrishnan Renuka , Sennipathan Senthil , Sakka Sophia , Bath Louise , Elleri Daniela , Davies Justin H , Barton John , Tucker Ian , Rayner Lauren , Arundel Paul , Gilbey-Cross Robyn , Tothill Alexander M , Philip James , Sawoky Nadine , Connor Paul , Mathieson Leigh

Objectives: X-linked hypophosphataemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone and rickets. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. Real-world evidence is important in validating the findings of clinical studies. We report relevant real-world biochemical data on children under five years ...

ba0007p73 | (1) | ICCBH2019

Burosumab initiation in a UK X-linked hypophosphataemia cohort: real-world use resonates with research evidence

Dharmaraj Poonam , Burren Christine , Cheung Moira S , Padidela Raja , Mughal Zulf , Shaw Nick , Saraff Vrinda , Nadar Ruchi , Randell Tabitha , Mushtaq Talat , Ramakrishnan Renuka , Sennipathan Senthil , Sakka Sophia , Bath Louise , Elleri Daniela , Davies Justin H , Barton John , Tucker Ian , Rayner Lauren , Arundel Paul , Gilbey-Cross Robyn , Tothill Alexander M , Philip James , Sawoky Nadine , Connor Paul , Mathieson Leigh

Objectives: X-linked hypophosphataemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone resulting in rickets, skeletal abnormalities, physical impairment, weakness, and pain. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. Real-world evidence is important in validating the findings of clinical studies. We...

ba0007p72 | (1) | IMPE2023

Burosumab experience in UK X-linked hypophosphataemia children under five years old

Dharmaraj Poonam , Burren Christine , Cheung Moira S , Padidela Raja , Mughal Zulf , Shaw Nick , Saraff Vrinda , Nadar Ruchi , Randell Tabitha , Mushtaq Talat , Ramakrishnan Renuka , Sennipathan Senthil , Sakka Sophia , Bath Louise , Elleri Daniela , Davies Justin H , Barton John , Tucker Ian , Rayner Lauren , Arundel Paul , Gilbey-Cross Robyn , Tothill Alexander M , Philip James , Sawoky Nadine , Connor Paul , Mathieson Leigh

Objectives: X-linked hypophosphataemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone and rickets. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. Real-world evidence is important in validating the findings of clinical studies. We report relevant real-world biochemical data on children under five years ...

ba0007p73 | (1) | IMPE2023

Burosumab initiation in a UK X-linked hypophosphataemia cohort: real-world use resonates with research evidence

Dharmaraj Poonam , Burren Christine , Cheung Moira S , Padidela Raja , Mughal Zulf , Shaw Nick , Saraff Vrinda , Nadar Ruchi , Randell Tabitha , Mushtaq Talat , Ramakrishnan Renuka , Sennipathan Senthil , Sakka Sophia , Bath Louise , Elleri Daniela , Davies Justin H , Barton John , Tucker Ian , Rayner Lauren , Arundel Paul , Gilbey-Cross Robyn , Tothill Alexander M , Philip James , Sawoky Nadine , Connor Paul , Mathieson Leigh

Objectives: X-linked hypophosphataemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone resulting in rickets, skeletal abnormalities, physical impairment, weakness, and pain. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. Real-world evidence is important in validating the findings of clinical studies. We...