This clinical trial is being conducted in Hypophosphatasia, a bone disorder caused by gene mutation(s) resulting in bone defects. These gene mutations cause low levels of an enzyme needed to harden bone. The purpose of this study is to provide access to treatment in a disease where no approved treatment exists. This is an experimental treatment provided under specific treatment guidelines in which safety endpoints will be collected.
U.S. sites participating in the expanded access program are closed to enrollment.
Biological: asfotase alfa
Patients participating in this program will receive 6 mg/kg/week asfotase alfa (administered at a dosage regimen of 1 mg/kg 6 times per week or 2 mg/kg 3 times per week at the discretion of the Investigator) by SC injection. During follow-up visits, dose adjustments to account for changes in body weight will be made. Additional incremental dose adjustments for lack of efficacy or safety reasons may also be decided upon by the Investigator in consultation with the Alexion Medical Monitor.
Patients must meet all of the following inclusion criteria for participation in this
1. Patient or parent (or legal guardian) must provide written informed consent prior to the performance of any program-related procedures and must be willing to comply with program procedures. Where appropriate and required by local regulations, patient assent for participation must also be obtained.
2. Patient must have a documented diagnosis of HPP as indicated by a documented history of HPP-related skeletal abnormalities and one or more of the following: - Documented tissue-nonspecific alkaline phosphatase (TNSALP) gene mutation(s) - Serum alkaline phosphatase (ALP) level below the age-adjusted normal range AND plasma pyridoxal-5'-phosphate (PLP) above the upper limit of normal at Screening. NOTE: Historical results for PLP may be used to determine patient eligibility. The criterion for plasma PLP is not applicable if the patient is receiving pyridoxine treatment.
3. Patient must have infantile- or juvenile-onset HPP, defined as documented onset of signs/symptoms of HPP prior to 18 years of age.
4. Male patient is: - Prepubertal; OR - Surgically sterile (defined as vasectomized for ≥6 months at Baseline); OR - Non-surgically sterile (defined as non-vasectomized or vasectomized for
Colorado Center for Bone Research
Lakewood, Colorado, 80227
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15224
Andrew Denker, MD, PhD