Hypochondroplasia
Conditions
Keywords
skeletal dysplasia, endochondral ossification, hypochondroplasia, HCH, shortened proximal limbs, fibroblast growth factor receptor 3, FGFR3, endochondral bone formation, disproportionate short stature, quality of life, dwarfism, bone diseases, musculoskeletal diseases, osteochondrodysplasia, functional abilities, annualized growth velocity, annualized height velocity, growth, genetic diseases, congenital, AHV, AGV, Pathogenic variants
Brief summary
Phase 2, multicenter, OLE study to evaluate the long-term safety, tolerability, and efficacy of infigratinib, an FGFR (fibroblast growth factor receptor) 1-3-selective tyrosine kinase inhibitor, in participants with Hypochondroplasia (HCH) who previously completed ACCEL 2/3, and potentially additional participants who completed ACCEL. Participants rolling over directly from the observational ACCEL study must have had at least a 6-month period of growth assessment in that study.
Interventions
DRUGInfigratinib
Infigratinib to be administered by mouth and initiated at the last dose level received in the ACCEL 2/3 study or at the dose selected to be further evaluated after proof-of-concept is established for Phase 2 portion of ACCEL 2/3.
Sponsors
QED Therapeutics, a BridgeBio company
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
3 Years to 18 Years
Healthy volunteers
No
Inclusion criteria
* Inclusion Criteria for Participants Rolling Over from ACCEL 2/3 1. Pediatric participants with HCH who have completed ACCEL 2/3 2. Negative pregnancy test in girls ≥10 years of age or girls of any age who have experienced menarche
Exclusion criteria
*
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Changes over time in standing height Z-score in relation to HCH and non-HCH growth charts | 10 years |
| Incidence of treatment emergent adverse events (TEAE) and serious TEAE | 10 years |
Secondary
| Measure | Time frame |
|---|---|
| Change in working memory assessed by age-appropriate computerized tests (One Back Test) | 10 years |
| Changes over time in severity of epilepsy measured by frequency and adverse event grading | 10 years |
| Changes over time in AHV Z-score | 10 years |
| Changes over time in body proportions | 10 years |
| Changes over time in weight Z-score | 10 years |
| Changes overtime in BMI | 10 years |
| Age of puberty onset and time to Tanner stage ≥4 | 10 years |
| Changes over time in body composition as assessed by DXA (dual x-ray absorptiometry) scans | 10 years |
| Changes over time in bone morphology/density by x-ray and DXA | 10 years |
| Change in psychomotor function assessed by age-appropriate computerized tests (Detection Test) | 10 years |
| Changes in health-related Quality of life [HRQoL] as assessed by Pediatric Quality of Life Inventory (PedsQL) | 10 years |
| Changes in health-related Quality of life [HRQoL] as assessed by Quality of Life in Short Stature Youth questionnaire (QoLISSY) | 10 years |
| Severity of the physical functioning challenges as assessed by Patient/Parent Global Impression of Severity (PGI-S) | 10 years |
| Severity of the physical functioning challenges as assessed by Patient/Parent Global Impression of Change (PGI-C) | 10 years |
| Change in attention assessed by age-appropriate computerized tests (Identification Test) | 10 years |
| Subject and caregiver evaluation of treatment benefit as assessed by a qualitative interview | 10 years |
| Change in visual learning assessed by age-appropriate computerized tests (One Card Learning Test) | 10 years |
Countries
Australia, Canada, France, Norway, Portugal, Singapore, Spain, Sweden, United Kingdom, United States
Contacts
STUDY_DIRECTORQED Therapeutics SVP, Clinical Development
QED Therapeutics, a BridgeBio company
Outcome results
None listed