A registry of achondroplasia: a 6-year experience from the Czechia and Slovak Republic

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F67985904%3A_____%2F22%3A00558691" target="_blank" >RIV/67985904:_____/22:00558691 - isvavai.cz</a>
Alternative codes found
RIV/00159816:_____/22:00076066 RIV/65269705:_____/22:00076066 RIV/00216224:14110/22:00126274
Result on the web
<a href="https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02374-x" target="_blank" >https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02374-x</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1186/s13023-022-02374-x" target="_blank" >10.1186/s13023-022-02374-x</a>

Result language
angličtina
Original language name
A registry of achondroplasia: a 6-year experience from the Czechia and Slovak Republic
Original language description
Background: Achondroplasia (ACH) is one of the most prevalent genetic forms of short-limbed skeletal dysplasia, caused by gain-of-function mutations in the receptor tyrosine kinase FGFR3. In August 2021, the C-type natriuretic peptide (CNP) analog vosoritide was approved for the treatment of ACH. A total of six other inhibitors of FGFR3 signaling are currently undergoing clinical evaluation for ACH. This progress creates an opportunity for children with ACH, who may gain early access to the treatment by entering clinical trials before the closure of their epiphyseal growth plates and cessation of growth. Pathophysiology associated with the ACH, however, demands a long observational period before admission to the interventional trial. Public patient registries can facilitate the process by identification of patients suitable for treatment and collecting the data necessary for the trial entry.
Czech name
—
Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
10601 - Cell biology

Project
<a href="/en/project/NV18-08-00567" target="_blank" >NV18-08-00567: Targeting FGFR3 activation as a treatment for skeletal dysplasia</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2022
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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