Hypophosphatasia
Conditions
Keywords
HPP, Bone Disease, Soft Bones, Low Alkaline Phosphatase, genetic metabolic disorder, alkaline phosphatase, rickets, osteomalacia
Brief summary
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.
Detailed description
U.S. sites participating in the expanded access program are closed to enrollment.
Interventions
BIOLOGICALasfotase 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.
Sponsors
Alexion Pharmaceuticals, Inc.
Eligibility
Sex/Gender
ALL
Inclusion criteria
Patients must meet all of the following inclusion criteria for participation in this program: 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 \<6 months at Baseline) and his female spouse/partner who is of childbearing potential must be using highly effective contraception consisting of two forms of birth control (at least one of which must be a barrier method) as described below starting at Baseline and continuing for 3 months after program completion. * Simultaneous use of condom, and for the female partner established use of hormonal contraceptives (eg, oral, injected, implanted) or intra-uterine contraceptive device * Simultaneous use of condom, and for the female partner occlusive cap (diaphragm or cervical/vault caps) with intravaginally applied spermicide 5. Female patient is: * Of non-childbearing potential, defined as: * Prepubertal; OR * Post-menopausal (defined as absence of menses for 12 months prior to Baseline or bilateral oophorectomy or hysterectomy with bilateral oophorectomy at least 6 months prior to Baseline); OR * Surgically sterile (defined as having hysterectomy or tubal ligation at least 6 months prior to Baseline) OR * Of childbearing potential, and: * Not sexually active; OR * Sexually active with non-sterile male spouse/partner (sterile male spouse/partner defined as a man vasectomized for ≥6 months) and must be using highly effective contraception consisting of two forms of birth control (at least one of which must be a barrier method) as described below and continuing for 3 months after program completion. * Simultaneous use of hormonal contraceptives (eg, oral, injected, implanted) or intra-uterine contraceptive device since at least 4 weeks prior to Baseline, and condom for the male partner * Simultaneous use of occlusive cap (diaphragm or cervical/vault caps) with intravaginally applied spermicide, and a condom for the male partner, since at least 14 days prior to Baseline 6. Male patients who are pubertal or post-pubertal and not surgically sterile (surgically sterile defined as vasectomized for ≥6 months) must agree to not donate sperm during program participation and for 3 months after program completion. 7. Female patients of childbearing potential (ie, those who are not prepubertal or postmenopausal or surgically sterile as defined in inclusion criteria 5 above) must have a negative urine or serum pregnancy test at Screening.
Exclusion criteria
Patients will be excluded from participation in this program if they meet one or more of the following
Countries
France, United States
Outcome results
None listed