Mucopolysaccharidosis Type IVA MedDRA version: 16.1 Level: PT Classification code 10028095 Term: Mucopolysaccharidosis IV System Organ Class: 10010331 - Congenital, familial and genetic disorders
Conditions
Interventions
Product Name: recombinant human N-acetylgalactosamine-6-sulfatase (rhGALNS)
Product Code: BMN 110
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: Not Available
CAS Number: 9025-60-9
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Sponsors
BioMarin Pharmaceutical Inc.
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: • Is willing and able to provide written, signed informed consent (or the patient’s legally authorized representative) after the nature of the study has been explained and prior to performance of any research-related procedure. Patients who do not meet country and local age requirements for informed consent must be willing and able to provide written assent after the nature of the study has been explained and prior to performance of any research-related procedure. • Has documented clinical diagnosis of MPS IVA based on clinical signs and symptoms of MPS IVA and documented reduced fibroblast or leukocyte GALNS enzyme activity or genetic testing confirming diagnosis of MPS IVA. • Is = 5 years of age. • If sexually active, is willing to use an acceptable method of contraception while participating in the study. For purposes of this study, hormonal contraception is considered to be one of the choices of an acceptable method of contraception, but only if, in consultation with his or her physician, the patient has been using or has indicated a preference for the use of this method prior to seeking enrollment in the study. • Females of childbearing potential must have a negative pregnancy test at the Screening Visit and be willing to have additional pregnancy tests during the study. • Is willing and able to perform all study procedures as physically possible. Are the trial subjects under 18? yes Number of subjects for this age range: 15 F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range 5 F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: • Is able to walk = 30 meters as assessed by the 6MWT. • Has previous hematopoietic stem cell transplant (HSCT). • Has received previous treatment with BMN 110. • Has a known hypersensitivity to any of the components of BMN 110. • Has had major surgery within 3 months prior to study entry or is planning to have a major surgery during the first 24 weeks of the study. • Has used any other investigational product or investigational medical device within 30 days prior to the Screening Visit or requires any investigational agent prior to completion of all scheduled study assessments. • Is pregnant or breastfeeding at the Screening Visit or planning to become pregnant (self or partner) at any time during the study. • Has clinically significant bronchial asthma • Has a concurrent disease or condition, including but not limited to symptomatic cervical spine instability or severe cardiac disease or complete paralysis due to a spinal cord injury (defined as an inability to move arms and legs), that would interfere with study participation or safety as determined by the Investigator. • Has any condition that, in the view of the Investigator, places the patient at high risk of poor treatment compliance or of not completing the study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Timepoint(s) of evaluation of this end point: 1.) Every 12 weeks (Baseline, Week 12, Week 24, Week 36, and Week 48 [or Early Termination Visit (ETV)]) during the initial treatment phase, and every 24 weeks (or ETV) during the extension phase 2) Every 12 weeks (Baseline, Week 12, Week 24, Week 36, and Week 48 (or ETV) during the initial treatment phase, and every 12 weeks (or ETV) during the extension phase;Main Objective: The primary objective of this study is to evaluate the effect of 2.0 mg/kg/week BMN 110 (as defined by the domains of upper extremity function and dexterity, mobility, pain, and self care and functional abilities) in a patient population that has limited ambulation.;Secondary Objective: • To evaluate the effect of 2.0 mg/kg/week BMN 110 on respiratory function in patients with MPS IVA who have limited ambulation. • To evaluate the effect of 2.0 mg/kg/week BMN 110 on sleep apnea in patients with MPS IVA who have limited ambulation. • To evaluate the effect of 2.0 mg/kg/week BMN 110 on urine KS levels in patients with MPS IVA who have limited ambulation.;Primary end point(s): There are no statistical criteria for termination of the study. Primary efficacy assessments and procedures are: 1.) The FDT and GPT (upper extremity function and dexterity), 25-Foot Walk Test (mobility) 2.) BPI short form (pain tool for adult patients) or APPT (pain tool for pediatric patients), the PODCI (QOL questionnaire for pediatric patients) or SF-36v2 (R) (QOL questionnaire for adult patients) | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): 1) Safety assessments (AEs, vital signs, concomitant medications) 2) Respiratory function tests (RFTs) for assessment of FET, FEV1, FIVC, FVC, MVV and optional TLC 3) Sleep apnea assessment measured by Apnea-Hypopnea Index (AHI) 4) Urine samples for measurement of urinary KS and urinary creatinine;Timepoint(s) of evaluation of this end point: 1) Assessed at Screening and each visit throughout the study (or ETV) 2) Baseline and Weeks 24 and 48 (or ETV) during the initial treatment phase, or every 48 weeks (or ETV) during the extension phase 3) Baseline and Weeks 24 and 48 (or ETV) during the initial treatment phase, and every 24 weeks (or ETV) during the extension phase 4) Baseline, Weeks 2, 4, 6, and 12, and then Weeks 24, 36, and 48 (or ETV) during the initial treatment phase, and every 24 weeks (or ETV) during the extension phase | — |
Countries
Germany, Italy, United Kingdom, United States
Contacts
Public ContactClinical Trials Information
BioMarin Pharmaceutical Inc.
Outcome results
None listed