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Published on: April 11, 2018
Height Velocity in Pediatric Cystic Fibrosis Under Triple CFTR Modulator Therapy: A Real-Life Monocentric Experience
Alessandra Boni1, Francesco d'Aniello2, Grazia Ubertini2
1Pulmonology and Cystic Fibrosis Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Insights
Elexacaftor/Tezacaftor/Ivacaftor (ETI) significantly boosts height velocity in children with cystic fibrosis (CF). This growth improvement is particularly pronounced in patients with specific CFTR variant genotypes, highlighting ETI
Area of Science:
- Pediatric Pulmonology
- Genetics
- Pharmacology
Background:
- Cystic Fibrosis (CF) is a genetic disorder impacting multiple organs, often leading to growth impairment.
- Linear growth is crucial for better pulmonary outcomes in children with CF.
- Elexacaftor/Tezacaftor/Ivacaftor (ETI) is a modulator therapy approved for CF patients aged 6 and above.
Purpose of the Study:
- To evaluate the impact of ETI on height velocity (HV) in pediatric CF patients.
- To analyze growth patterns before and after ETI initiation.
- To explore genotype-specific differences in HV response to ETI.
Main Methods:
- Prospective single-center study of 24 children (6-11 years) eligible for ETI.
- Baseline and post-treatment assessments included height, weight, BMI, BMD, body composition, and muscle strength.
- Height velocity (HV) and BMI standard deviation scores (SDS) were calculated for 6-month periods before and after ETI initiation.
Main Results:
- ETI treatment significantly increased mean HV from 4.2 cm/year pre-treatment to 7.1 cm/year post-treatment (p < 0.0001).
- HV SDS increased from -1.96 to +1.5 post-treatment, indicating a substantial growth improvement.
- Patients with F508del/minimal function (F/MF) genotypes exhibited significantly greater HV increases compared to F/F and F/RF genotypes (p < 0.0001).
Conclusions:
- ETI therapy rapidly and significantly improves height velocity in children with cystic fibrosis.
- The positive impact on HV is particularly notable in patients with F/MF CFTR genotypes.
- CFTR modulator therapy plays a vital role in promoting linear growth, a key health indicator in pediatric CF.
Abstract:
Background/Objectives: Cystic fibrosis (CF) is a multi-system disorder characterized by chronic respiratory failure, malnutrition, and impaired growth. Achieving linear growth above the 50th percentile is associated with better pulmonary outcomes. Since October 2022, Elexacaftor/Tezacaftor/Ivacaftor (ETI) has been approved in Italy for children aged ≥6 years. However, data on its impact on height velocity (HV) remain lacking. This study aims to evaluate growth patterns by HV and explore differences according to the CFTR variant genotype. Methods: We conducted a prospective single-center study at the CF Unit of Bambino Gesù Children's Hospital involving 24 children aged 6-11 years eligible for ETI treatment. Baseline assessments included height, weight, body mass index (BMI), bone mineral density (BMD), body composition (via bioelectrical impedance analysis, BIA), and muscle strength (one-minute sit-to-stand test (1STST)). Height, weight, HV, and BMI standard deviation scores (SDS) were calculated for the 6 months before and after ETI initiation. Results: The mean age of the cohort was 8.7 ± 1.9 years (F/M: 12/12), with most patients naïve to CFTR modulators. A significant increase in HV was observed post-ETI: from 4.2 ± 2.0 cm/year (-1.96 ± 2.4 SDS) in the 6 months before treatment to 7.1 ± 3.0 cm/year (+1.5 ± 3.7 SDS) after treatment initiation (p < 0.0001). Patients with F508del/minimal function (F/MF) genotypes (n = 11) showed significantly greater HV compared to those with F508del/F508del (F/F, n = 5) and F508del/residual function (F/RF, n = 8) genotypes (p < 0.0001). No significant differences were observed among genetic groups in baseline BMD or lean mass. Conclusions: ETI treatment significantly and rapidly improves HV in children with CF, particularly in those with F/MF genotypes. These findings underscore the role of CFTR modulator therapy in promoting linear growth, a key indicator of health in pediatric CF populations.
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