Editing Achondroplasia (section)

== Treatment ==
There is no known cure for achondroplasia even though the cause of the mutation in the growth factor receptor has been found. Although used by those without achondroplasia to aid in growth, [[human growth hormone]] does not help people with achondroplasia, which involves a different hormonal pathway. Usually, the best results appear within the first and second year of therapy.<ref name="ReferenceA">{{cite journal|last1=Vajo|first1=Zoltan|last2=Francomano|first2=Clair A.|last3=Wilkin|first3=Douglas J.|title=The Molecular and Genetic Basis of Fibroblast Growth Factor Receptor 3 Disorders: The Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis Nigricans|journal=Endocrine Reviews|date=1 February 2000|volume=21|issue=1|pages=23–39|doi=10.1210/edrv.21.1.0387|pmid=10696568|url=https://zenodo.org/record/1236235|doi-access=free}}</ref> After the second year of growth hormone therapy, beneficial bone growth decreases,<ref>{{cite journal|last1=Aviezer|first1=David|last2=Golembo|first2=Myriam|last3=Yayon|first3=Avner|title=Fibroblast Growth Factor Receptor-3 as a Therapeutic Target for Achondroplasia - Genetic Short Limbed Dwarfism|journal=Current Drug Targets|date=30 June 2003|volume=4|issue=5|pages=353–365|doi=10.2174/1389450033490993|pmid=12816345}}</ref> so the therapy is not a satisfactory long-term treatment.<ref name="ReferenceA"/> As of December 2020, the treatment of achondroplasia with human growth hormone was approved only in Japan.<ref name="Legeai-Mallet">{{cite journal|doi=10.1016/j.bone.2020.115579|quote="One therapy offered to ACH patients is treatment with recombinant human growth (r-hGH) (approved today only in Japan)."|title=Novel therapeutic approaches for the treatment of achondroplasia|year=2020|last1=Legeai-Mallet|first1=Laurence|last2=Savarirayan|first2=Ravi|journal=Bone|volume=141|page=115579|pmid=32795681|s2cid=221133224|doi-access=free}}</ref>

A small-molecule drug [[vosoritide]] is used to improve growth velocity in children with achondroplasia,<ref name=":0" /> although its long-term effects are unknown. Vosoritide inhibits the activity of ''FGFR3''.<ref>{{cite journal |last1=Savarirayan |first1=Ravi |date=4 July 2019 |title=C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia |journal=New England Journal of Medicine |volume=381 |issue=1 |pages=25–35 |doi=10.1056/NEJMoa1813446 |pmid=31269546 |doi-access=free}}</ref> It has been gradually made available in different countries starting from 2021.

[[Limb-lengthening]] will increase the length of the legs and arms of someone with achondroplasia,<ref name="pmid17717461">{{cite journal|vauthors=Kitoh H, Kitakoji T, Tsuchiya H, Katoh M, Ishiguro N|title=Distraction osteogenesis of the lower extremity in patients that have achondroplasia/hypochondroplasia treated with transplantation of culture-expanded bone marrow cells and platelet-rich plasma|journal=J Pediatr Orthop|volume=27|issue=6|pages=629–34|year=2007|pmid=17717461|doi=10.1097/BPO.0b013e318093f523|s2cid=42226362}}</ref>  but little medical consensus exists regarding this practice. The age of surgery can vary from early childhood to adulthood.<ref>{{cite journal|doi=10.1038/s41574-021-00595-x|quote="Although evidence in this area is scarce, limb lengthening is advised in some countries and not recommended in others. ... The timing of limb lengthening varies and has been performed from early childhood to adult life in individuals with achondroplasia."|title=International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia|year=2021|last1=Savarirayan|first1=Ravi|last2=Ireland|first2=Penny|last3=Irving|first3=Melita|last4=Thompson|first4=Dominic|last5=Alves|first5=Inês|last6=Baratela|first6=Wagner A. R.|last7=Betts|first7=James|last8=Bober|first8=Michael B.|last9=Boero|first9=Silvio|last10=Briddell|first10=Jenna|last11=Campbell|first11=Jeffrey|last12=Campeau|first12=Philippe M.|last13=Carl-Innig|first13=Patricia|last14=Cheung|first14=Moira S.|last15=Cobourne|first15=Martyn|last16=Cormier-Daire|first16=Valérie|last17=Deladure-Molla|first17=Muriel|last18=Del Pino|first18=Mariana|last19=Elphick|first19=Heather|last20=Fano|first20=Virginia|last21=Fauroux|first21=Brigitte|last22=Gibbins|first22=Jonathan|last23=Groves|first23=Mari L.|last24=Hagenäs|first24=Lars|last25=Hannon|first25=Therese|last26=Hoover-Fong|first26=Julie|last27=Kaisermann|first27=Morrys|last28=Leiva-Gea|first28=Antonio|last29=Llerena|first29=Juan|last30=MacKenzie|first30=William|journal=Nature Reviews Endocrinology|volume=18 |issue=3 |pages=173–189 |pmid=34837063|s2cid=244638495|display-authors=1|doi-access=free}}</ref>

Research has also shown that introducing parents of children with achondroplasia to support and advocacy groups at the time of diagnosis can improve outcomes.<ref>{{cite journal|doi=10.1038/s41574-021-00595-x|quote="Introducing parents to advocacy and support groups has been proven beneficial."|title=International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia|year=2021|last1=Savarirayan|first1=Ravi|last2=Ireland|first2=Penny|last3=Irving|first3=Melita|last4=Thompson|first4=Dominic|last5=Alves|first5=Inês|last6=Baratela|first6=Wagner A. R.|last7=Betts|first7=James|last8=Bober|first8=Michael B.|last9=Boero|first9=Silvio|last10=Briddell|first10=Jenna|last11=Campbell|first11=Jeffrey|last12=Campeau|first12=Philippe M.|last13=Carl-Innig|first13=Patricia|last14=Cheung|first14=Moira S.|last15=Cobourne|first15=Martyn|last16=Cormier-Daire|first16=Valérie|last17=Deladure-Molla|first17=Muriel|last18=Del Pino|first18=Mariana|last19=Elphick|first19=Heather|last20=Fano|first20=Virginia|last21=Fauroux|first21=Brigitte|last22=Gibbins|first22=Jonathan|last23=Groves|first23=Mari L.|last24=Hagenäs|first24=Lars|last25=Hannon|first25=Therese|last26=Hoover-Fong|first26=Julie|last27=Kaisermann|first27=Morrys|last28=Leiva-Gea|first28=Antonio|last29=Llerena|first29=Juan|last30=MacKenzie|first30=William|journal=Nature Reviews Endocrinology|volume=18 |issue=3 |pages=173–189 |pmid=34837063|s2cid=244638495|display-authors=1|doi-access=free}}</ref> Several patient advocacy groups exist to support people with achondroplasia and their families.<ref>{{cite web |title=Associations |url=https://www.beyondachondroplasia.org/en/resources/patient-groups/associations |website=Beyond Achondroplasia |access-date=2 January 2022 |language=en-gb}}</ref> [https://www.skeletaldysplasia.org/patients Resources] are available to support patients and their caregivers with information that they can distribute to their physicians, who may not be familiar with the unique medical requirements of managing achondroplasia. Physician-oriented best practice guidelines are also available to guide physicians managing the spinal disorders,<ref>{{cite journal |last1=White |first1=Klane K. |last2=Bober |first2=Michael B. |last3=Cho |first3=Tae-Joon |last4=Goldberg |first4=Michael J. |last5=Hoover-Fong |first5=Julie |last6=Irving |first6=Melita |last7=Kamps |first7=Shawn E. |last8=Mackenzie |first8=William G. |last9=Raggio |first9=Cathleen |last10=Spencer |first10=Samantha A. |last11=Bompadre |first11=Viviana |last12=Savarirayan |first12=Ravi |last13=on behalf of the Skeletal Dysplasia Management Consortium |date=2020-12-24 |title=Best practice guidelines for management of spinal disorders in skeletal dysplasia |journal=Orphanet Journal of Rare Diseases |language=en |volume=15 |issue=1 |page=161 |doi=10.1186/s13023-020-01415-7 |pmid=32580780 |pmc=7313125 |issn=1750-1172 |doi-access=free}}</ref> foramen magnum stenosis,<ref name="onlinelibrary.wiley.com"/> craniofacial implications,<ref>{{cite journal |last1=on behalf of the Skeletal Dysplasia Management Consortium |last2=Savarirayan |first2=Ravi |last3=Tunkel |first3=David E. |last4=Sterni |first4=Laura M. |last5=Bober |first5=Michael B. |last6=Cho |first6=Tae-Joon |last7=Goldberg |first7=Michael J. |last8=Hoover-Fong |first8=Julie |last9=Irving |first9=Melita |last10=Kamps |first10=Shawn E. |last11=Mackenzie |first11=William G. |last12=Raggio |first12=Cathleen |last13=Spencer |first13=Samantha A. |last14=Bompadre |first14=Viviana |last15=White |first15=Klane K. |date=2021-12-01 |title=Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia |journal=Orphanet Journal of Rare Diseases |language=en |volume=16 |issue=1 |page=31 |doi=10.1186/s13023-021-01678-8 |issn=1750-1172 |doi-access=free |pmid=33446226 |pmc=7809733}}</ref> pregnancy,<ref>{{cite journal |last1=Savarirayan |first1=Ravi |last2=Rossiter |first2=Judith P. |last3=Hoover-Fong |first3=Julie E. |last4=Irving |first4=Melita |last5=Bompadre |first5=Viviana |last6=Goldberg |first6=Michael J. |last7=Bober |first7=Michael B. |last8=Cho |first8=Tae-Joon |last9=Kamps |first9=Shawn E. |last10=Mackenzie |first10=William G. |last11=Raggio |first11=Cathleen |last12=Spencer |first12=Samantha S. |last13=White |first13=Klane K. |date=2018-12-01 |title=Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia |journal=American Journal of Obstetrics and Gynecology |language=en |volume=219 |issue=6 |pages=545–562 |doi=10.1016/j.ajog.2018.07.017|pmid=30048634 |doi-access=free}}</ref> and peri-operative<ref>{{cite journal |last1=White |first1=Klane K. |last2=Bompadre |first2=Viviana |last3=Goldberg |first3=Michael J. |last4=Bober |first4=Michael B. |last5=Cho |first5=Tae-Joon |last6=Hoover-Fong |first6=Julie E. |last7=Irving |first7=Melita |last8=Mackenzie |first8=William G. |last9=Kamps |first9=Shawn E. |last10=Raggio |first10=Cathleen |last11=Redding |first11=Gregory J. |last12=Spencer |first12=Samantha S. |last13=Savarirayan |first13=Ravi |last14=Theroux |first14=Mary C. |last15=On behalf of the Skeletal Dysplasia Management Consortium |date=2017-10-01 |title=Best practices in peri-operative management of patients with skeletal dysplasias |url=https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.38357 |journal=American Journal of Medical Genetics Part A |language=en |volume=173 |issue=10 |pages=2584–2595 |doi=10.1002/ajmg.a.38357 |pmid=28763154 |hdl=11343/293252 |s2cid=22251966 |issn=1552-4825|hdl-access=free}}</ref> needs of people with achondroplasia.

Homozygous achondroplasia is invariably considered terminal even with aggressive treatment.