Achondroplasia
Conditions
Keywords
Skeletal dysplasia, Endochondral ossification, Achondroplasia (ACH), Shortened proximal limbs, Fibroblast growth factor receptor 3, FGFR3, Endochondral bone formation, Short-limb disproportionate dwarfism, Quality of life in achondroplasia, Dwarfism, Bone diseases, Musculoskeletal diseases, Osteochondrodysplasia, Genetic diseases, Inborn, Functional abilities, Average growth velocity, Average height velocity, growth, Congenital
Brief summary
This is a long-term, multi-center, observational study in children 2.5 to \<17 years with achondroplasia (ACH). The objective is to evaluate growth, ACH-related medical complications, assessments of health-related quality of life, body pain, functional abilities, cognitive functions, and treatments of study participants. 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 17 Years
Healthy volunteers
No
Inclusion criteria
Key Inclusion Criteria: * Signed informed consent by study participant or parent(s) or legally authorized representative (LAR) and signed informed assent by the study participant (when applicable) * Aged 2.5 to \<17 years at study entry * Diagnosis of ACH * Study participants and parent(s) or LAR(s) are willing and able to comply with study visits and study procedures Key
Exclusion criteria
* Have hypochondroplasia or short stature condition other than ACH (e.g. trisomy 21, pseudoachondroplasia, psychosocial short stature) * In females, having had their menarche * Height \< -2 or \> +2 standard deviations for age and sex based on reference tables on growth in children with ACH * Annualized height growth velocity ≤1.5 cm/year over a period ≥6 months prior to screening * Current evidence of corneal or retinal disorder/keratopathy * Current evidence of endocrine alterations of calcium/phosphorus homeostasis * Have a concurrent disease or condition that in the view of the Investigator and/or Sponsor, may impact growth or where the treatment is known to impact growth. * Significant abnormality in screening laboratory results. * Have been treated with growth hormone, insulin-like growth factor 1 (IGF 1), or anabolic steroids in the previous 6 months or long-term treatment (\>3 months) at any time * Have had regular long-term treatment (\>1 month) with oral corticosteroids (low-dose ongoing inhaled steroid for asthma is acceptable) * Have had previous guided growth surgery or limb-lengthening surgery within 12 months prior to screening.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Annualized height velocity (cm/year) | Up to 2 years |
Countries
Argentina, Australia, Canada, France, Germany, Italy, Norway, Singapore, Spain, United Kingdom, United States
Contacts
STUDY_DIRECTORQED Therapeutics, Inc. VP, Clinical Development
QED Therapeutics
Outcome results
None listed