Hypochondroplasia
Conditions
Brief summary
This study will assess growth over time and the clinical course of HCH in children by collecting growth measurements and other variables of interest.
Interventions
None listed
Sponsors
BioMarin Pharmaceutical
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 15 Years
Healthy volunteers
No
Inclusion criteria
* Participants must be ≤ 15 years old at the time of signing the informed consent * Participants must have genetic confirmation of Hypochondroplasia diagnosis
Exclusion criteria
* Have a diagnosis of another genetic short stature condition other than Hypochondroplasia or a genetic variant known to cause another genetic syndrome associated with short stature * Received an investigational product or medical device within 6 months before the Screening visit
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Change in ratio of arms span to standing height ratio | Every 6 months through end of study, up to 15 years |
| Change in annualized growth velocity (AGV) | Every 6 months through end of study, up to 15 years |
| Change in Height Z-score | Every 6 months through end of study, up to 15 years |
| Change in Height | Every 6 months through end of study, up to 15 years |
| Change in BMI | Every 6 months through end of study, up to 15 years |
| Change in BMI Z-score | Every 6 months through end of study, up to 15 years |
| Change in ratios of upper to lower body segments | Every 6 months through end of study, up to 15 years |
| Change in ratios of upper and lower leg length ratio | Every 6 months through end of study, up to 15 years |
Secondary
| Measure | Time frame |
|---|---|
| Change in Quality of Life in Short Statured Youth (QoLISSY) total score | Every 52 weeks through end of study, up to 15 years |
| Change in patient global impression of severity (PGI-S) | Every 52 weeks through end of study, up to 15 years |
| Change in caregiver global impression of severity (CaGI-S) | Every 52 weeks through end of study, up to 15 years |
| Frequency of event rates of medical events of interest | Every 6 months through end of study, up to 15 years |
| Proportion of children who report use of growth hormone, treatment patterns and impact on growth | Every 6 months through end of study, up to 15 years |
| Proportion of children who report limb lengthening surgery | Every 6 months through end of study, up to 15 years |
| Change in Quality of Life in Short Statured Youth (QoLISSY) physical domain | Every 52 weeks through end of study, up to 15 years |
Countries
Argentina, Australia, Brazil, Canada, France, Germany, Italy, Japan, Spain, United Kingdom, United States
Contacts
Primary ContactTrial Specialist
Outcome results
None listed