Achondroplasia is the most frequent form of skeletal dysplasia (= inborn disorder of the bone and cartilage tissue) with disproportionate dwarfism.

It is caused by an FGFR3 mutation, which permanently activates the fibroblast growth factor receptor 3 (FGFR3). This impedes the differentiation of the cartilage cells (chondrocytes) and interrupts the function of the growth plate, leading to serious medical complications such as narrowing of the upper respiratory tract, foramen magnum (= opening in the area of the posterior cranial fossa) and spinal stenosis (= narrowing of the spinal canal).

Therapy using the drug vosoritide in children with achondroplasia is intended to stimulate the growth and differentiation of chondrocytes and thus achieve an improvement in bone growth.

The sessions are intended for children and young people with achondroplasia (pathogenic FGFR3 gene mutation).

The care of children with achondroplasia: neuropaediatric investigation, provision of aids, orthopaedic support,genetic evaluation, ENT monitoring, psychology, physiotherapy and occupational therapy.

First appointment

• Detailed recording of medical history and neuropaediatric results
• Consideration of whether the treatment is suitable for your child
• Advice and information about side effects, mode of action, storage of Voxzogo, duration of treatment and further course

Second appointment

• First treatment with Voxzogo, as an outpatient in the kbo-Kinderzentrum München SPZ under observation for two hours

Third appointment

• Second treatment with Voxzogo, as an outpatient in the kbo-Kinderzentrum München SPZ under observation for two hours
• Training of parents

Follow-up appointment 3 months after Voxzogo therapy
 

• Assessment of tolerance of treatment with Voxzogo

Repeat appointment

• Regular appointments every six months with provision of aids and orthopaedic support.