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About This Activity

Activity Description and Learning Objectives

In this activity, experts in the field of rare bone diseases discuss recent advances in clinical management strategies and assess how the remaining challenges to more effective treatment may be overcome with new and emerging therapies.

This activity has been jointly provided by Oakstone and touchENDOCRINOLOGY. Oakstone Publishing is accredited by the ACCME to provide continuing medical education to physicians.

After watching this activity, participants should be better able to:

Target Audience

This activity has been designed to meet the educational needs of endocrinologists, paediatricians, nurse specialists and other healthcare practitioners involved in the treatment and care of patients with rare bone diseases worldwide.

Disclosures

Oakstone Publishing has assessed conflict of interest with its faculty, authors, editors, and any individuals who were in a position to control the content of this CME activity. Any identified relevant conflicts of interest were resolved for fair balance and scientific objectivity of studies utilized in this activity. Oakstone Publishing’s planners, content reviewers and editorial staff disclose no relevant commercial interests.

Faculty

Prof. Agnes Linglart has no financial interests/relationships or affiliations in relation to this activity.

Dr Thomas Carpenter disclosures: Research grants from Ultragenyx Pharmaceutical. Consulting services for Inozyme Pharma Inc, Kyowa Kirin, Regeneron Pharmaceuticals and Ultragenyx Pharmaceutical.

Prof. Kathryn Dahir disclosures: Research grants from Alexion Pharmaceuticals, Mereo BioPharma, Regeneron Pharmaceuticals and Ultragenyx Pharmaceutical. Consulting services for Alexion Pharmaceuticals and Ultragenyx Pharmaceutical.

Content Reviewer

Walter Murray Yarbrough, MD, has no financial interests/relationships or affiliations in relation to this activity.

Touch Medical Director

Alison Scott, PhD, has no financial interests/relationships or affiliations in relation to this activity.

Requirements for Successful Completion

Oakstone Publishing designates this enduring material for a maximum of 0.5 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

In order to receive credit for this activity, participants must review and complete the post-test and evaluation form. A score of 70% or higher is needed to obtain CME credit. Statements of credit are awarded upon successful completion of the post-test and evaluation form.

This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of Oakstone Publishing and touchIME. Oakstone Publishing is accredited by the ACCME to provide continuing medical education for physicians.

The European Union of Medical Specialists (UEMS) – European Accreditation Council for Continuing Medical Education (EACCME) has an agreement of mutual recognition of continuing medical education (CME) credit with the American Medical Association (AMA). European physicians interested in converting AMA PRA Category 1 Credit™ into European CME credit (ECMEC) should contact the UEMS (www.uems.eu)

Date of original release: 12 August 2020. Date credits expire: 12 August 2021.

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CME Post-test

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Q1. According to the latest classification carried out in 2019, how many rare bone diseases have been identified?

  1. A. <300
  2. B. <350
  3. C. <400
  4. D. <450

Please try again

As of the latest classification, 461 rare bone disorders caused by ≥437 genes have been identified.

Reference
Mortier GR, et al. Am J Med Genet A. 2019;179:2393–419.

Q2. In addition to a thorough examination and radiological assessment, which of the following should also be carried out to definitively diagnose HPP?

  1. A. Physical exam of siblings
  2. B. Biochemical tests
  3. C. Genetic testing
  4. D. Monitoring of symptoms over time

Please try again

HPP is diagnosed according to clinical symptoms, radiological findings, and biochemical test results. Although low serum alkaline phosphatase (ALP) activity is an important finding, for the definitive diagnosis, ALPL gene testing is recommended.

Abbreviations
HPP, hypophosphatasia

Reference
Michigami T, et al. Clin Pediatr Endocrinol. 2020;29:9–24.

Q3. In addition to heterotopic ossification, which defining clinical feature would indicate a diagnosis of FOP?

  1. A. Malformation of the great toes
  2. B. Bone fractures
  3. C. Malformation of the spine
  4. D. Poor dentition

Please try again

FOP is a rare and disabling genetic condition that is characterized by congenital malformations of the great toes and progressive heterotopic endochondral ossification.

Abbreviations
FOP, fibrodysplasia ossificans progressive

References
Pignolo RJ et al. Pediatr Endocrinol Rev. 2013;10:437–448.

Q4. Which of the following markers are used to monitor the treatment effectiveness of asfotase alfa in patients with HPP?

  1. A. BALP and OC
  2. B. BSP and CTX-1
  3. C. PLP and PPi
  4. D. HYP and DPD

Please try again

HPP is characterized by low tissue-nonspecific alkaline phosphatase isoenzyme activity that results in extracellular accumulation of its substrates, including PLP, the principal circulating form of vitamin B6, and PPi, a potent inhibitor of mineralization. In the study by Kishnani, et al., that assessed the efficacy and safety of asfotase alfa in adults and adolescents with HPP, the coprimary efficacy measure was change in plasma PLP (ng/mL) and PPi (µM) concentrations from baseline to Month 6.

Abbreviations
BALP, bone-specific alkaline phosphatase; BSP, bone sialoprotein; CTX-1, carboxy-terminal crosslinked telopeptide of type 1 collagen; DPD, deoxypyridinoline; HPP, hypophosphatasia; HYP, hydroxyproline; OC, osteocalcin; PLP, pyridoxal 5′-phosphate; PPi, inorganic pyrophosphate

References
Kishnani PS, et al. Bone. 2019;121:149–162.

Q5. What is the mechanism behind renal wasting in patients with XLH?

  1. A. Excessive expression of sodium phosphate transporters removes phosphate from the blood
  2. B. Excessive FGF23 in the blood leads to reduced phosphate reabsorption from the urine
  3. C. Excessive FGF23 in the urine binds phosphate preventing reabsorption
  4. D. Excessive expression of the FGFR1c receptor removes phosphate from the blood

Please try again

In XLH, the hormone FGF23 is produced in excessive amounts, and results in renal phosphate wasting and suppression of 1,25-dihydroxyvitamin D, which leads to low serum phosphate concentrations.

Abbreviations
XLH, X-linked hypophosphataemia; FGF23, fibroblast growth factor 23

References
Saraff V, et al. Pediatr Drugs. 2020;22:113–121.

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touchPANEL DISCUSSION

Rare bone diseases – moving away from diagnostic odyssey towards effective treatments

Introduction

Watch a panel of international experts discuss recent advances in the clinical management of rare bone diseases and evaluate how the remaining challenges to more effective treatment may be overcome with new and emerging therapies.

Professor Agnes Linglart chairs a discussion with Dr Thomas Carpenter and Professor Kathryn Dahir, exploring current approaches to the diagnosis and treatment of rare bone disorders, before sharing their expert insights into how the latest data on new and emerging therapies may shape future best practice. The panel also reviews current clinical challenges and highlight the requirement to better address existing unmet needs for patients living with these conditions.

This activity is intended for endocrinologists, paediatricians, nurse specialists and other healthcare professionals involved in the treatment and care of patients with rare bone diseases, worldwide.

This touchPANEL DISCUSSION was recorded in July 2020.

Learning Objectives

After watching this touchPANEL DISCUSSION, you should be able to:

  • Recognize the key signs and symptoms of a range of different rare bone diseases
  • Describe the clinical challenges associated with the management of certain rare bone diseases and unmet needs of patients
  • Recall the latest clinical data for new and emerging agents for the treatment of rare bone diseases

Clinical Spotlight

  • What advances have been made recently in the diagnosis and treatment of rare bone diseases?
  • How can we identify and overcome the remaining challenges to achieve more effective patient management strategies?
  • What are the potential implications of the latest scientific and trial data on existing approaches to clinical management in rare bone diseases?

Clinical Spotlight

  • What advances have been made recently in the diagnosis and treatment of rare bone diseases?
  • How can we identify and overcome the remaining challenges to achieve more effective patient management strategies?
  • What are the potential implications of the latest scientific and trial data on existing approaches to clinical management in rare bone diseases?

The Expert Panel

PROF. AGNES LINGLART

DR THOMAS CARPENTER

PROF. KATHRYN DAHIR

PROF. AGNES LINGLART

Agnes Linglart is Professor of Pediatrics at GHU Paris-Saclay – Hôpital de Bicêtre, Paris, France, where she practices as a paediatrician specializing in paediatric endocrinology and metabolic bone diseases.

Professor Linglart is the national coordinator for both the French Rare Bone Disease Network (OSCAR) and the Reference Centre for Rare Disorders of Calcium and Phosphate Metabolism. Her research interests focus on improving treatment and outcomes for patients living with rare bone disorders and she has published widely in this field.

Disclosures: no financial interests/relationships or affiliations in relation to this activity.

DR THOMAS CARPENTER

Thomas Carpenter holds professorships in both Pediatrics and Orthopedics and Rehabilitation at Yale University School of Medicine, New Haven, CT, USA. A practicing Attending Physician in Pediatrics at Yale–New Haven Hospital, Dr Carpenter has extensive experience in the clinical management of rare bone diseases.

As Medical Director of the Hospital Research Unit at the Yale Center for Clinical Investigation, Dr Carpenter is actively involved in research, publishing over 100 papers on rare bone diseases and mineral metabolism disorders. He is also Associate Editor of the Journal of Bone and Mineral Research.

Disclosures: Research grants from Ultragenyx Pharmaceutical. Consulting services for Inozyme Pharma Inc, Kyowa Kirin, Regeneron Pharmaceuticals and Ultragenyx Pharmaceutical.

PROF. KATHRYN DAHIR

Kathryn Dahir is Professor of Medicine at Vanderbilt University Medical Center, Nashville, TN, where she is a practicing physician in the Department of Endocrinology and is a founding co-Director of the Vanderbilt Program for Metabolic Bone Disorders.

Professor Dahir is active in translational research, overseeing a major research program in metabolic bone disease and publishing widely in the field. A primary investigator for multiple clinical trials in skeletal dysplasia, Professor Dahir is also leading scientific research into the underlying genetics of bone disease related to hypophosphatasia.

Disclosures: Research grants from Alexion Pharmaceuticals, Mereo BioPharma, Regeneron Pharmaceuticals and Ultragenyx Pharmaceutical. Consulting services for Alexion Pharmaceuticals and Ultragenyx Pharmaceutical.

About This Activity

Activity Description and Learning Objectives

In this activity, experts in the field of rare bone diseases discuss recent advances in clinical management strategies and assess how the remaining challenges to more effective treatment may be overcome with new and emerging therapies.

This activity has been jointly provided by Oakstone and touchENDOCRINOLOGY. Oakstone Publishing is accredited by the ACCME to provide continuing medical education to physicians.

After watching this activity, participants should be better able to:

  • Recognize the key signs and symptoms of a range of different rare bone diseases
  • Describe the clinical challenges associated with the management of certain rare bone diseases and unmet needs of patients
  • Recall the latest clinical data for new and emerging agents for the treatment of rare bone diseases

Target Audience

This activity has been designed to meet the educational needs of endocrinologists, paediatricians, nurse specialists and other healthcare practitioners involved in the treatment and care of patients with rare bone diseases worldwide.

Disclosures

Oakstone Publishing has assessed conflict of interest with its faculty, authors, editors, and any individuals who were in a position to control the content of this CME activity. Any identified relevant conflicts of interest were resolved for fair balance and scientific objectivity of studies utilized in this activity. Oakstone Publishing’s planners, content reviewers and editorial staff disclose no relevant commercial interests.

Faculty

Prof. Agnes Linglart has no financial interests/relationships or affiliations in relation to this activity.

Dr Thomas Carpenter disclosures: Research grants from Ultragenyx Pharmaceutical. Consulting services for Inozyme Pharma Inc, Kyowa Kirin, Regeneron Pharmaceuticals and Ultragenyx Pharmaceutical.

Prof. Kathryn Dahir disclosures: Research grants from Alexion Pharmaceuticals, Mereo BioPharma, Regeneron Pharmaceuticals and Ultragenyx Pharmaceutical. Consulting services for Alexion Pharmaceuticals and Ultragenyx Pharmaceutical.

Content Reviewer

Walter Murray Yarbrough, MD, has no financial interests/relationships or affiliations in relation to this activity.

Touch Medical Director

Alison Scott, PhD, has no financial interests/relationships or affiliations in relation to this activity.

Requirements for Successful Completion

Oakstone Publishing designates this enduring material for a maximum of 0.5 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

In order to receive credit for this activity, participants must review and complete the post-test and evaluation form. A score of 70% or higher is needed to obtain CME credit. Statements of credit are awarded upon successful completion of the post-test and evaluation form.

This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of Oakstone Publishing and touchIME. Oakstone Publishing is accredited by the ACCME to provide continuing medical education for physicians.

The European Union of Medical Specialists (UEMS) – European Accreditation Council for Continuing Medical Education (EACCME) has an agreement of mutual recognition of continuing medical education (CME) credit with the American Medical Association (AMA). European physicians interested in converting AMA PRA Category 1 Credit™ into European CME credit (ECMEC) should contact the UEMS (www.uems.eu)

Date of original release: 12 August 2020. Date credits expire: 12 August 2021.