Advantages and Disadvantages of Different Treatment Methods in Achondroplasia: A Review

Wrobel, Wiktoria; Pach, E; Beń‐Skowronek, Iwona

doi:10.3390/ijms22115573

Cited by 25 publications

(17 citation statements)

References 83 publications

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“…Approaches are varied and include inhibiting the tyrosine kinase activity of FGFR3 (infigratinib), producing artificial FGFR3 as a decoy for FGF ligand (recifercept), inhibition of FGFR3 downstream signaling pathways (meclizine, C-type natriuretic peptide [CNP] analogs), modulation of growth via natriuretic peptide receptor 2 (NPR2) receptor (CNP analogs) and use of aptamers or monoclonal antibodies to prevent binding of FGF to its receptor (aptamer RBM-007, vofatamab). The investigations into analogs of CNP, especially vosoritide, are currently the most advanced [69].…”

Section: Achondroplasiamentioning

confidence: 99%

Novel Treatment Options in Childhood Bone Diseases

2022

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Background: Several novel treatment options have recently become available in childhood bone diseases. The purpose of this article is to provide an update on some of the therapeutic agents used in the treatment of pediatric osteoporosis, X-linked hypophosphatemic rickets, and achondroplasia (ACH). Summary: Vitamin D3 and Ca supplementation remains the basis of childhood osteoporosis treatment. Bisphosphonate (BP) therapy is the main antiresorptive therapeutic option, while denosumab, a human monoclonal IgG2 antibody with high affinity and specificity for a primary regulator of bone resorption – RANKL, represents a possible alternative. Its potent inhibition of bone resorption and turnover process leads to continuous increase of bone mineral density throughout the treatment also in the pediatric population. With a half-life much shorter than BPs, its effects are rapidly reversible upon discontinuation. Safety and dosing concerns in children remain. Novel treatment options have recently become available in two rare bone diseases. Burosumab, a monoclonal antibody against FGF-23, has been approved for the treatment of children with X-linked hypophosphatemic rickets older than 1 year. It presents an effective, more etiology-based treatment for rickets compared to conventional therapy, without the need for multiple daily oral phosphate supplementation. Its long-term efficacy and safety are currently being investigated. After years of anticipation, a novel treatment option for ACH has become available. C-type natriuretic peptide analog vosoritide effectively increases proportional growth and has a reasonable safety profile in children >2 years. Its effect on other features of the disease and the final height is yet to be determined. Several other treatment options for ACH exploring different therapeutic approaches are currently being investigated. Key Messages: Denosumab is effective in the treatment of childhood-onset osteoporosis; however, further studies are necessary to determine the optimal treatment protocol. Burosumab is more etiology-based and convenient in comparison to conventional treatment of X-linked hypophospha<X00_Del_TrennDivis>-</X00_Del_TrennDivis>temic rickets in children and adults. Vosoritide importantly changes the natural course of achondroplasia, at least in the short term.

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Section: Achondroplasiamentioning

confidence: 99%

Novel Treatment Options in Childhood Bone Diseases

2022

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“…The physical features of achondroplasia are characterized by changes in the musculoskeletal system that include short stature, shortened proximal section of limbs (rhizomelic shortening), macrocephaly, frontal bossing with midface hypoplasia, and atypical development of the mandible [ 7 , 8 ]. In addition, individuals with this condition may have muscular hypotonia and kyphosis of the spine in infancy, and then lordosis when they begin walking.…”

Section: Introductionmentioning

confidence: 99%

“…To date, the most commonly used approach to alter to short stature or disproportionate limbs has been limb lengthening which involves multiple surgeries and prolonged recovery [ 12 , 25 ]. As an understanding of the pathogenesis of achondroplasia improves, attention is turning to pharmacologic treatments [ 7 , 26 , 27 ]. While the potential benefit of pharmacologic treatment is documented in the clinical literature, little is understood about how patients and families view the use of medications to improve endochondral bone growth to increase their stature and, potentially, ameliorate or prevent complications.…”

Section: Introductionmentioning

confidence: 99%

Treatment Goals for Achondroplasia: A Qualitative Study with Parents and Adults

McGraw

Henne²,

Nutter

et al. 2022

Adv Ther

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Introduction Achondroplasia is characterized by disproportionate short stature accompanied by other changes to the musculoskeletal system. Individuals with this condition typically experience a variety of medical complications. As pharmacologic treatments continue to be developed for the treatment of achondroplasia, it is important to understand treatment goals among those affected by achondroplasia and the factors that shape their goals. Methods This qualitative study is based on semi-structured interviews with 19 parents of children with achondroplasia and five adults with achondroplasia in the USA. We employed thematic analysis using an iterative process to identify themes across the interviews. Results Participants had two goals for pharmacologic treatment of achondroplasia: ameliorating complications associated with the condition and increasing stature to overcome functional limitations and psychosocial challenges. Complications of particular concern were chronic pain and surgeries to repair spinal, ear, nose, and throat (ENT) problems, and neurological sequelae. Increased height would enhance independence, help individuals to fit in socially, and avoid social stigma. Countervailing factors included the importance of stature to their identity and the concern that the condition would remain despite treatment. Conclusions This study offers evidence about how individuals affected by achondroplasia think about the pharmacologic treatment of this condition, including both the benefits of ameliorating complications and increasing height. The findings can offer practical insights for parents of children considering treatment, treating physicians, and decision-makers evaluating coverage decisions for treatment of achondroplasia. Supplementary Information The online version contains supplementary material available at 10.1007/s12325-022-02190-6.

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“…The physical features of achondroplasia are characterized by changes in the musculoskeletal system that include short stature, decreased length of the proximal section of limbs (rhizomelic shortening), macrocephaly, frontal bossing with midface hypoplasia, and atypical development of the mandible 6,7 . In addition, individuals with this condition may have hypotonia and kyphosis of the spine in infancy and then lordosis when they begin walking.…”

mentioning

confidence: 99%

“…These procedures involve multiple surgeries and prolonged recovery 11,24 . As an understanding of the pathogenesis of achondroplasia improves, attention is turning to pharmacologic treatments 6,25,26 . While the potential bene t of pharmacologic treatment is documented in the clinical literature, little is understood about how patients and families view the use of medications to improve endochondral bone growth in order to increase stature and, potentially, to ameliorate complications.…”

mentioning

confidence: 99%

Treatment Goals for Achondroplasia: A Qualitative Study with Parents and Adults

McGraw

Henne²,

Nutter³

et al. 2021

Preprint

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Background: Achondroplasia is characterized by disproportionate short stature accompanied by other changes to the musculoskeletal system. Individuals with this condition typically experience a variety of medical complications. Pharmacologic treatments are being developed for the treatment of achondroplasia. It is important to understand the goals for pharmacologic treatment among those affected by achondroplasia and factors that shape these views. Methods: This qualitative study is based on semi-structured interviews with 19 parents of children with achondroplasia and 5 adults with achondroplasia in the United States. We employed thematic analysis using an iterative process to identify themes across the interviews. Results:Participants had two goals for pharmacologic treatment of achondroplasia: ameliorating complications associated with the condition and increasing stature to overcome functional limitations and psychosocial challenges. Complications of particular concern were chronic pain and surgeries to repair spinal, ENT, and neurological sequelae. Increased height would enhance independence, fitting in socially, and avoiding social stigma. Despite many challenges, parents and adults with achondroplasia expressed that they found ways to adapt and emphasized satisfaction and the positive aspects of their lives. Concerns about medical treatment included fear of loss of their identity as a little person. Conclusions:This study offers evidence about how individuals affected by achondroplasia think about pharmacologic treatment of this condition, including both the benefits of ameliorating complications and increasing height. The findings can offer practical insights for parents of children considering treatment, treating physicians and decision makers evaluating coverage decisions for treatment of achondroplasia.

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Advantages and Disadvantages of Different Treatment Methods in Achondroplasia: A Review

Cited by 25 publications

References 83 publications

Novel Treatment Options in Childhood Bone Diseases

Novel Treatment Options in Childhood Bone Diseases

Treatment Goals for Achondroplasia: A Qualitative Study with Parents and Adults

Treatment Goals for Achondroplasia: A Qualitative Study with Parents and Adults

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