Informace o publikaci
REGISTRY OF ACHONDROPLASIA 2015–2021
| Autoři | |
|---|---|
| Rok publikování | 2021 |
| Druh | Konferenční abstrakty |
| Fakulta / Pracoviště MU | |
| Citace | |
| Popis | Achondroplasia (ACH) is the most prevalent genetic form of nanism caused by an activating mutation in the FGFR3 receptor tyrosine kinase. More than 20 years of research have yielded much insight into ACH‘s molecular mechanisms. The turning point is the year 2021, the first long-term effective pharmacological therapy is approved, C-natriuretic peptide (Vosoritide/VOXZOGO, Biomarine, San Rafael, CA, USA). However, the opportunity for ACH patients may be limited by a fragmented system of professional monitoring. Methods and File The Achondroplasia Registry (ReACH) is the first Central European registry, enrolling patients with skeletal dysplasia since 2015. The register was approved by the Ethics Committee of the Masaryk University and at St. Anna‘s Hospital. Patient data with ACH was collected through paediatric and adolescent practitioners, orthopaedics, endocrinologists and other specialists. After informed consent was given, the data was entered in the online TrialDB system and stored in the Oracle 9i database of the Masaryk University. The average age of patients at ReACH is 8.5 +/- 4.8 years. But ReACH also includes data from several adults. The frequency of selected neurological, orthopaedic, or ORL diagnoses was recorded, taking into account the age of reported complication Results The pilot group included 51 children, 22 of them girls. A total of 89 measurements were obtained, mainly heights, weights, but also other parameters. The average growth rate (AGV) was calculated, with values without exception in the lower decile for appropriate age. The pilot group partially experienced a paternal age effect (fathers were two years older than the general group), with a total of 43.5% of fathers at ReACH. Only one patient under 11 years of age has undergone orthopaedic limb extension and one patient has received growth hormone treatment. Potential contraindications to approved treatments, such as co-morbidities low blood pressure and renal impairment, were not noted in any patient. ReACH continues to collect data with annual frequency, allowing comparisons of growth in the observational period and after eventual initiation of therapy in treated patients. |