Managing achondroplasia

Considerations for treatment

During an individual’s lifetime, achondroplasia can lead to severe and debilitating complications. These can cause1:

  • Compromised muscle functionality
  • Chronic pain
  • Restricted mobility
  • Even sudden death

Alongside the high clinical burden, achondroplasia may also profoundly diminish physical and mental health-related quality of life.1

Historically, the therapeutic landscape for achondroplasia has been limited, highlighting a critical and long-standing need for additional treatment options.1

The Unmet Need
Limb lengthening icon Limb lengthening icon
  • Limb lengthening is a surgical intervention that aims to increase bone length and manage limb disproportion
  • However, it targets only long bones, leaving other achondroplasia-related complications unaddressed
  • Individuals undergoing this surgery face the risk of various complications due to its invasive nature
  • In addition, limb lengthening doesn’t address the underlying pathophysiology of achondroplasia

Patients living with achondroplasia deserve therapies that aim to address3,4:

Clinical manifestations
Health-related quality of life
Mental health and well-being
Societal functioning

Today’s treatment goals are focused on providing benefits to bone and beyond

To address the underlying pathophysiology of achondroplasia, it is crucial to target the sustained signaling of the MAPK pathway downstream of the constitutively active FGFR3 in tissues throughout the body.1,5-7

Discover resources to deepen your understanding of achondroplasia and better support your patients.

Go to resources

FGFR3=fibroblast growth factor receptor 3; MAPK=mitogen-activated protein kinase.

References:
1. Murton MC, Drane ELA, Goff-Leggett DM, et al. Burden and treatment of achondroplasia: a systematic literature review. Adv Ther. 2023;40(9):3639-3680. 2. Semler O, Cormier-Daire V, Lausch E, et al. Vosoritide therapy in children with achondroplasia: early experience and practical considerations for clinical practice. Adv Ther. 2024;41(1):198-214. 3. Wrobel W, Pach E, Ben-Skowronek I. Advantages and disadvantages of different treatment methods in achondroplasia: a review. Int J Mol Sci. 2021;22(11):5573. 4. McGraw SA, Henne JC, Nutter J, et al. Treatment goals for achondroplasia: a qualitative study with parents and adults. Adv Ther. 2022;39(7):3378-3391. 5. Legeai-Mallet L, Savarirayan R. Novel therapeutic approaches for the treatment of achondroplasia. Bone. 2020;141:115579. 6. Pauli RM. Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis. 2019;14(1):1-49. 7. Ornitz DM, Legeai-Mallet L. Achondroplasia: development, pathogenesis, and therapy. Dev Dyn. 2017;246(4):291-309.