Achondroplasia
Conditions
Sponsors
BioMarin Pharmaceutical Inc.(ICCC:EPS Corporation)
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: -Diagnosis of ACH,confirmed by genetic testing -Age 0 to < 60 months at study entry (Day1) -At least 6 month period of pretreatment growth assessment in Study 111-901 immediately before study entry (for cohort 1 and 2) or at least 3 months of observation in either Study 111-901 or Study 111-206 prior to treatment (for cohort 3)
Exclusion criteria
Exclusion criteria: 1.Have hypochondroplasia or short-stature condition other than achondroplasia (e.g., trisomy 21, pseudoachondroplasia, etc.) 2.Have any of the following: -Hypothyroidism or hyperthyroidism -Insulin-requiring diabetes mellitus -Autoimmune inflammatory disease (including celiac disease, systemic lupus erythematosus, juvenile dermatomyositis, scleroderma, etc.) -Inflammatory bowel disease -Autonomic neuropathy 3.Have a clinically significant finding or arrhythmia that indicates abnormal cardiac function or conduction or QTc-F > 450 msec on screening ECG 4.Have evidence of cervicomedullary compression (CMC) likely to require surgical intervention within 60 days of Screening as determined by the Investigator and informed by the following assessments: -Physical exam (eg, neurologic findings of clonus, opisthotonus, exaggerated reflexes, dilated facial veins) -Polysomnography (eg, severe central sleep apnea) -MRI indicating presence of severe CMC or spinal cord damage 5.Subject weight 3 months) at any time 7.Any history of spine or long-bone surgery or any bone-related surgery with chronic complications 8.Any history of limb-lengthening surgery or planned limb-lengthening during the study 9.Fracture of the long bones within 6 months prior to screening
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| efficacy Evaluate the effect of BMN 111 on change from baseline in length/height Z-scores [Time frame: One year] | — |
Secondary
| Measure | Time frame |
|---|---|
| safety efficacy 1.Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability] [ Time Frame: One year ] 2.Evaluate the effect of BMN 111 on change from baseline in AGV [ Time Frame: One year ] 3.Evaluate the effect of BMN 111 on bone morphology/quality by X-ray and dual X-ray absorptiometry (DXA) [ Time Frame: One year ] 4.Characterize maximum concentration (Cmax) of BMN 111 in plasma [ Time Frame: One year ] 5.Characterize the area under the plasma concentration time-curve from time 0 to infinity (AUC 0-infinity) [ Time Frame: One year ] 6.Characterize the area under the plasma concentration time-curve from time 0 to the last measurable concentration (AUC0-t) [ Time Frame: 52 Weeks ] 7.Characterize the elimination half-life of BMN 111 (t1/2) [ Time Frame: 52 weeks ] 8.Characterize the apparent clearance of drug [ Time Frame: 52 weeks ] 9.Characterize the apparent volume of distribution based upon the terminal phase (Vz/F) [ Time Frame: 52 weeks ] 10.Characterize the amount of time BMN 111 is present at maximum concentration (Tmax) [ Time Frame: 52 weeks ] 11.Potential Changes in health-related quality of life as measured by the quality of life in Short- statured youth [ Time Frame: One year ] 12.BMN 111 activity will be assessed by measuring bone and collagen metabolism [ Time Frame: One year ] 13.Evaluate the effect of BMN 111 on growth parameters and body proportions, including change from baseline in upper:lower segment body ratio [ Time Frame: One year ] 14.Evaluate the effect of BMN 111 on Sleep study scores by polysomnography [ Time Frame: One year ] | — |
Countries
Europe, Japan, North America, Oceania
Outcome results
None listed