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    Faculty & Disclosures
    Dr Nadia Merchant

    Children’s National Hospital, Washington, DC, USA

    Dr Nadia Merchant is currently assistant professor in the Division of Endocrinology and Diabetes, Children’s National Hospital, George Washington University, Washington, DC, USA, where she is the endocrinologist for the bone health clinic (orthopaedics endocrine, genetics for skeletal dysplasia), muscular dystrophy clinic, white matter clinic (specifically, X-linked adrenoleukodystrophy), and 22q11 deletion syndrome clinic. read more

    Nadia Merchant earned her MD at Weill Cornell Medical College-Qatar, Doha, Qatar, and completed residencies in paediatrics at Wright State Boonshoft School of Medicine, Dayton, OH, and in clinical genetics at Baylor College of Medicine/Texas Children’s Hospital Houston, TX. She completed her paediatric endocrinology fellowship training at Baylor College of Medicine/Texas Children’s Hospital. 

    Working at an academic centre in several multidisciplinary clinics along with community endocrine clinics has led Dr Merchant to build her clinical expertise and allowed her to pursue research projects to improve clinical care. She has been involved in projects revolving around improving patient management of endocrinopathies with several genetic conditions such as osteogenesis imperfecta, McCune-Albright syndrome, growth disorders, 22q11 deletion syndrome and Duchenne muscular dystrophy.  

    Dr Merchant’s hope is to continue to improve awareness, guidelines and clinical management for children with rare diseases.

    Dr Nadia Merchant discloses: Advisory board/ Panel fees from Biomarin. Consultancy fees from Pfizer. Grants/research support from Biomarin.
    Dr Andrew Dauber

    Children’s National Hospital, Washington, DC, USA

    Dr Dauber is the chief of endocrinology at the Children’s National Hospital in Washington, DC, USA. read more

    Andrew Dauber earned his MD and a Master’s degree in clinical investigation at Harvard Medical School. He completed his paediatrics residency, chief residency and paediatric endocrinology fellowship training at Boston Children’s Hospital.

    At Boston Children’s Hospital, he began his research career in the laboratory of Joel Hirschhorn. Dr Dauber’s work focuses on rare genetic causes of growth disorders and the use of next-generation sequencing technologies to understand paediatric endocrine disorders. He has identified numerous genetic aetiologies for short stature, in addition to discovering that mutations in the MKRN3 and DLK1 genes are responsible for central precocious puberty. He is currently leading a clinical trial exploring the use of vosoritide in children with selected genetic causes of short stature. 

    After his time in Boston, Dr Dauber was the inaugural program director at the Cincinnati Center for Growth Disorders at Cincinnati Children’s Hospital. In 2018, he moved to Washington, DC, and assumed his current position at the Children’s National Hospital. 

    In acknowledgment of his work, Dr Dauber has earned multiple awards, including young investigator awards from the Pediatric Endocrine Society, the American Society of Clinical Investigation and the European Society of Pediatric Endocrinology. In addition, he is the recipient of the Richard E Weitzman Outstanding Early Career Investigator Award from the Endocrine Society.

    Dr Andrew Dauber discloses: Advisory board/ Panel fees from Biomarin, Novo Nordisk and Pfizer (relationship terminated). Consultancy fees from Novo Nordisk, TYRA (relationship terminated) and WebMD (relationship terminated). Grants/research support from Biomarin.
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    Bone growth: Understanding normal and abnormal physiology
    Detecting and assessing achondroplasia to tailor care: Growth charts and assessment criteria
    Individualizing clinical management in achondroplasia: The potential role of emerging therapies
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    Bone Disorders, Paediatric Endocrinology CE/CME accredited

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    A relaxed discussion between two faculty focussed on real world clinical issues. Useful tips below will show how to navigate the activity. Join the conversation. Close

    Paediatric growth patterns and their impact on health: Achondroplasia in focus

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    Learning Objectives

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

    • Explain how the mechanisms behind various bone growth control systems contribute to bone health and bone abnormalities
    • Use appropriate growth charts to detect abnormal growth patterns in children
    • Summarize the linear growth patterns, and physical and radiographic findings indicative of achondroplasia, and the impact of emerging treatments
    Overview

    In this activity, experts in paediatric endocrinology respond to questions from the endocrinology and paediatrics community on the normal and abnormal physiology of bone growth; detecting and assessing achondroplasia, including the use of growth charts; and the role of emerging targeted therapies in the management of achondroplasia.

    This activity is jointly provided by USF Health and touchIME. read more

    Target Audience

    This activity has been designed to meet the educational needs of clinical geneticists, paediatric endocrinologists, paediatric orthopaedic surgeons and paediatricians involved in the management of children with achondroplasia.

    Disclosures

    USF Health adheres to the Standards for Integrity and Independence in Accredited Continuing Education. All individuals in a position to influence content have disclosed to USF Health any financial relationship with an ineligible organization. USF Health has reviewed and mitigated all relevant financial relationships related to the content of the activity. The relevant financial relationships are listed below. All individuals not listed have no relevant financial relationships.

    Faculty 

    Dr Nadia Merchant discloses: Advisory board/ Panel fees from Biomarin. Consultancy fees from Pfizer. Grants/research support from Biomarin.

    Dr Andrew Dauber discloses: Advisory board/ Panel fees from Biomarin, Novo Nordisk and Pfizer (relationship terminated). Consultancy fees from Novo Nordisk, TYRA (relationship terminated) and WebMD (relationship terminated). Grants/research support from Biomarin.

    Content reviewer

    Kaitlyn Rechenberg, PhD, MPH, APRN has no financial interests/relationships or affiliations in relation to this activity.

    Touch Medical Director

    Sola Neunie has no financial interests/relationships or affiliations in relation to this activity.

    USF Health Office of Continuing Professional Development and touchIME staff have no financial interests/relationships or affiliations in relation to this activity.

    Requirements for Successful Completion

    In order to receive credit for this activity, participants must review the content and complete the post-test and evaluation form. Statements of credit are awarded upon successful completion of the post-test and evaluation form.

    If you have questions regarding credit please contact cpdsupport@usf.edu.

    Accreditations

    Physicians

    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 a joint providership of USF Health and touchIME. USF Health is accredited by the ACCME to provide continuing medical education for physicians.

    USF Health designates this enduring material for a maximum of 0.75 AMA PRA Category 1 CreditTM.  Physicians should claim only the credit commensurate with the extent of their participation in the activity.

    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 CreditTM into European CME credit (ECMEC) should contact the UEMS (www.uems.eu).

    Advanced Practice Providers

    Physician Assistants may claim a maximum of 0.75 Category 1 credits for completing this activity. NCCPA accepts AMA PRA Category 1 CreditTM from organizations accredited by ACCME or a recognized state medical society.

    The AANPCP accepts certificates of participation for educational activities approved for AMA PRA Category 1 CreditTM by ACCME-accredited providers. APRNs who participate will receive a certificate of completion commensurate with the extent of their participation.

    Date of original release: 03 August 2022. Date credits expire: 03 August 2023.

    If you have any questions regarding credit please contact cpdsupport@usf.edu.

    This activity is CE/CME accredited

    To obtain the CE/CME credit(s) from this activity, please complete this post-activity test.

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    Topics covered in this activity

    Bone Disorders / Paediatric Endocrinology
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    This Activity Is Funded By:

    An independent medical education grant from Biomarin.
    This activity is jointly provided by USF Health and touchIME.

    The information provided by this CME activity is for continuing education purposes only and is not meant to substitute for the independent medical/clinical judgment of a healthcare provider relative to diagnostic and treatment options of a specific patient’s medical condition.

    USF is an Equal Opportunity / Affirmative Action / Equal Access Institution.

    USF Health is accredited by the Accreditation Council for Continuing Medical Education, the American Nurses Credentialing Center and the Accreditation Council for Pharmacy Education to provide continuing education to healthcare professionals. As an accredited provider, USF Health is required to disclose personal information to relevant accredited bodies that certify CME to process credits/contact hours, comply with reporting requirements, and for internal recordkeeping and regulatory purposes. USF Health does not share or sell any individual’s contact information or unique identifiers to any commercial supporter, advertiser, or third party without the specific permission of the individual.

    Unapproved products or unapproved uses of approved products may be discussed by the faculty; these situations may reflect the approval status in one or more jurisdictions. The presenting faculty have been advised by touchIME and USF Health to ensure that they disclose any such references made to unlabelled or unapproved use. No endorsement by touchIME or USF Health of any unapproved products or unapproved uses is either made or implied by mention of these products or uses in touchIME or USF Health activities. touchIME and USF Health accept no responsibility for errors or omissions.

    This content is intended for healthcare professionals.

    Date of original release: 03 August 2022. Date credits expire: 03 August 2023.

    Claim Credit
    touchIN CONVERSATION
    Paediatric growth patterns and their impact on health: Achondroplasia in focus
    0.75 CE/CME credit
    Question 1/4
    Which of these statements best describes some of the regulatory effects of FGFR3 in osteogenesis during typical growth?

    CNP, C-natriuretic peptide; FGFR3, fibroblast growth factor receptor-3; NPR-2, natriuretic peptide receptor-2.

    FGFR3 is a receptor tyrosine kinase that negatively regulates growth plate activity and linear bone growth. FGFR3 acts by inhibiting proliferation and/or terminal differentiation (hypertrophy) of growth plate chondrocytes. These events, as well as degradation and vascular invasion of hypertrophic cartilage, occur sequentially in the growth plate and are tightly coordinated to ensure linear bone growth.

    Abbreviation

    FGFR3, fibroblast growth factor receptor-3.

    Reference

    Klag KA, Horton WA. Hum Mol Genet. 2016;25:R2–8.

    Question 2/4
    A 3-year-old infant has been referred by their primary care physician to your specialist achondroplasia clinic. Which of the following would you consider when tailoring an individualized management plan for this child?

    According to recent recommendations from the International Achondroplasia Consensus Statement Group, parents of infants with achondroplasia should be provided with syndrome-specific growth charts and a growth parameters register (e.g. height, weight and head circumference) to support management and follow-up. Consideration of child and family perspectives to tailor appropriate support for those directly or indirectly affected by achondroplasia is also encouraged. 

    Reference

    Savarirayan R, et al. Nat Rev Endocrinol. 2022;18:173–89.

    Question 3/4
    In your patients with achondroplasia, which of these anthropometric measurements would you take regularly to assess developmental milestone attainment?

    Anthropometric data are valuable objective indicators of attained size and physical growth in children. CDC/WHO growth charts have been developed as sources of age-stratified anthropometric reference data to aid monitoring of growth and developmental milestone attainment in children and adolescents.1 

    Clinical surveillance of infants and children with achondroplasia necessitates syndrome-specific charts due to extreme short stature with body proportions that differ from average stature counterparts.2 

    Recommended anthropometric measures for regular assessment in achondroplasia include arm span, sitting height, crown–rump length, head circumference and segmental lengths, as these develop at altered rates and proportions compared with average stature population ranges.1–5

    Abbreviations

    CDC, US Centers for Disease Control and Prevention; WHO, World Health Organization.

    References

    1. Kuczmarski RJ, et al. Vital Health Stat. 2002;11(246):1–190.
    2. Neumeyer L, et al. Am J Med Genet A. 2021;185:401–12.
    3. Fryar CD, et al. Vital Health Stat. 2021;3(46):1–35.
    4. Merker A, et al. Am J Med Genet A. 2018;176:1819–29.
    5. Maternal and Child Health Bureau. Available at: http://depts.washington.edu/growth/cshcn/text/intro.htm  (accessed 23 June 2022).
    Question 4/4
    There are several therapies in development for the treatment of achondroplasia. Which of the following treatment classes are included in therapies in development?

    CNP, C-natriuretic peptide; MAPK, mitogen-activated protein kinase; TKI, tyrosine kinase inhibitor; RANK, receptor activator of nuclear factor kappa-B ligand.

    Fibroblast growth factor receptors (FGFRs) belong to the tyrosine kinase family and regulate various biological processes. Many genetic conditions are caused by deregulation in the FGFR-signalling network. Variations in the FGFR3 gene are the cause of achondroplasia; they enhance the receptor’s tyrosine kinase activity and activate mainly the downstream MAPK pathway.

    Several drugs targeting the overactive FGFR3 receptor and downstream signalling pathways are being developed to treat achondroplasia. Current classes under investigation include anti-FGFR3 antibodies, FGF2 aptamers, soluble FGFR3 decoys, agents targeting the CNP receptor, tyrosine kinase inhibitors and agents that downregulate phosphorylation of ERK in the MAPK pathway.

    Abbreviations

    CNP, C-natriuretic peptide; ERK, extracellular signal-regulated kinase 1; FGF2, fibroblast growth factor 2; FGFR3, fibroblast growth factor receptor-3; MAPK, mitogen-activated protein kinase.

    Reference

    Högler W, Ward LM. Wien Med Wochenschr. 2020;170:104–11.

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    This Activity Is Funded By:

    An independent medical education grant from Biomarin.
    This activity is jointly provided by USF Health and touchIME.

    The information provided by this CME activity is for continuing education purposes only and is not meant to substitute for the independent medical/clinical judgment of a healthcare provider relative to diagnostic and treatment options of a specific patient’s medical condition.

    USF is an Equal Opportunity / Affirmative Action / Equal Access Institution.

    USF Health is accredited by the Accreditation Council for Continuing Medical Education, the American Nurses Credentialing Center and the Accreditation Council for Pharmacy Education to provide continuing education to healthcare professionals. As an accredited provider, USF Health is required to disclose personal information to relevant accredited bodies that certify CME to process credits/contact hours, comply with reporting requirements, and for internal recordkeeping and regulatory purposes. USF Health does not share or sell any individual’s contact information or unique identifiers to any commercial supporter, advertiser, or third party without the specific permission of the individual.

    Unapproved products or unapproved uses of approved products may be discussed by the faculty; these situations may reflect the approval status in one or more jurisdictions. The presenting faculty have been advised by touchIME and USF Health to ensure that they disclose any such references made to unlabelled or unapproved use. No endorsement by touchIME or USF Health of any unapproved products or unapproved uses is either made or implied by mention of these products or uses in touchIME or USF Health activities. touchIME and USF Health accept no responsibility for errors or omissions.

    This content is intended for healthcare professionals.

    Date of original release: 03 August 2022. Date credits expire: 03 August 2023.

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