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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00159816:_____/22:00076066 RIV/65269705:_____/22:00076066 RIV/00216224:14110/22:00126274

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

10601 - Cell biology

Projekt

<a href="/cs/project/NV18-08-00567" target="_blank" >NV18-08-00567: Vývoj inhibitoru FGFR3 pro léčbu kosterní dysplázie</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2022

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Orphanet Journal of Rare Diseases

ISSN

1750-1172

e-ISSN

1750-1172

Svazek periodika

17

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

7

Strana od-do

229

Kód UT WoS článku

000812257000004

EID výsledku v databázi Scopus

2-s2.0-85132082407