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
Brief summary
This is a long-term, multicenter, non-interventional study of children ages 2.5 to \<17 years with hypochondroplasia (HCH).
Detailed description
The objective is to evaluate growth, HCH-related medical complications, health-related quality of life, functional abilities and cognitive functions of study participants. Data collected will contribute to the characterization of the natural history of children with HCH. No study medication will be administered.
Interventions
None listed
Sponsors
QED Therapeutics, a BridgeBio company
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
30 Months to 16 Years
Healthy volunteers
No
Inclusion criteria
Signed informed consent. Aged 2.5 to \<17 years at study entry. Diagnosis of HCH documented clinically by the presence of disproportionate short stature and confirmed with a molecular test. Participants are ambulatory and able to stand without assistance. Study participants and parent(s), guardian(s), or caregiver(s) are willing and able to comply with study visits and study procedures.
Exclusion criteria
Have ACH or short stature condition other than HCH. In females, having had their menarche. Annualized height growth velocity ≤1.5 cm/year over a period ≥6 months prior to screening. Having a clinically significant disease or condition that in view of the investigator or Sponsor will interfere with the evaluation of growth, with study participation or not be in the best interest of the participant. Clinically significant abnormality in any laboratory test result at screening Current evidence of corneal or retinal disorders. Have used any other investigational or approved product or medical device for the treatment of HCH or short stature for ≥ 30 days or with the last dose \<6 months before screening. Have had regular long-term treatment (\>1 month) with oral corticosteroids (low-dose ongoing inhaled steroid for asthma is acceptable). Previous limb-lengthening surgery or guided growth surgery with plates still in place or removed within the 6 months prior to screening. Having had a fracture of the long bones or spine within 12 months of screening. History and/or current evidence of extensive ectopic tissue calcification. History of malignancy. Concurrent circumstance, disease, or condition that, in the view of the investigator and/or sponsor, would interfere with study participation, and/or would place the participant at high risk for poor compliance with study activities or for not completing the study. Current participation in any other ongoing clinical study with another sponsor.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Annualized height velocity | up to 3 years |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change over time in height Z-score, upper arm to forearm ratio, and upper leg to lower leg ratio | up to 3 years | — |
| Cognitive functions | up to 3 years | — |
| HCH-related medical events reported as medical history or NT-AEs | up to 3 years | — |
| HCH-related surgical procedures | up to 3 years | — |
| Change from BL in the Physical Functioning dimension of the Pediatric Quality of Life Generic Core Scale Short Form. | up to 3 years | Scale scores 0-100. Higher score=better Health-Related Quality of Life |
Countries
Australia, Canada, France, Norway, Portugal, Singapore, Spain, Sweden, United Kingdom, United States
Contacts
CONTACTQED Therapeutics, Inc
Outcome results
None listed