J 2022

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

PEŠL, Martin, Hana VEREŠČÁKOVÁ, Linda SKUTKOVÁ, Jana STRENKOVÁ, Pavel KREJČÍ et. al.

Basic information

Original name

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

Authors

PEŠL, Martin (203 Czech Republic, belonging to the institution), Hana VEREŠČÁKOVÁ (203 Czech Republic, belonging to the institution), Linda SKUTKOVÁ (203 Czech Republic), Jana STRENKOVÁ (203 Czech Republic, belonging to the institution) and Pavel KREJČÍ (203 Czech Republic, guarantor, belonging to the institution)

Edition

Orphanet Journal of Rare Diseases, London, England, 2022, 1750-1172

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

10603 Genetics and heredity

Country of publisher

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

Impact factor

Impact factor: 3.700

RIV identification code

RIV/00216224:14110/22:00126274

Organization unit

Faculty of Medicine

DOI

UT WoS

000812257000004

Keywords in English

Skeletal dysplasia; Achondroplasia; FGFR3; Treatment; Registry; ReACH

Tags

Tags

International impact, Reviewed
Změněno: 18/7/2022 10:16, Mgr. Tereza Miškechová

Abstract

V originále

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. Results: In 2015, we established the prospective ACH registry in the Czechia and the Slovak Republic (http://www. achondroplasia-registry.cz). Patient data is collected through pediatric practitioners and other relevant specialists. After informed consent is given, the data is entered to the online TrialDB system and stored in the Oracle 9i database. The initial cohort included 51 ACH children (average age 8.5 years, range 3 months to 14 years). The frequency of selected neurological, orthopedic, or ORL diagnoses is also recorded. In 2015-2021, a total of 89 measurements of heights, weights, and other parameters were collected. The individual average growth rate was calculated and showed values without exception in the lower decile for the appropriate age. Evidence of paternal age effect was found, with 58.7% of ACH fathers older than the general average paternal age and 43.5% of fathers older by two or more years. One ACH patient had orthopedic limb extension and one patient received growth hormone therapy. Low blood pressure or renal impairment were not found in any patient. Conclusion: The registry collected the clinical information of 51 pediatric ACH patients during its 6 years of existence, corresponding to similar to 60% of ACH patients living in the Czechia and Slovak Republic. The registry continues to collect ACH patient data with annual frequency to monitor the growth and other parameters in preparation for future therapy.