Clinical Trial: Long-term Metazym Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional

Official Title: A Single Center, Open-Label, Non-Randomized, Uncontrolled, Multiple-Dose, Dose Escalation Study of the Safety, Pharmacokinetics, Efficacy and Long Term Safety of HGT-1111 (Recombinant Human

Brief Summary: This is a single center, open-label study of patients with late infantile MLD. All patients were previous treated 26 weeks in the phase I trial (EudraCT number: 2006-005341-11, NCT00418561). All patients will be offered continuing treatment in this study and will in this protocol receive 13 infusions, whereby the patients total have had 27 infusions of Metazym. One infusion will be given every other week. After a total of 52 weeks of treatment the subjects will continue treatment in a compassionate use protocol. Safety (AE/SAE) will be monitored at every visit.

Detailed Summary:
Sponsor: Shire

Current Primary Outcome:

  • Relative Changes (%) in Gross Motor Function Measurement (GMFM) [ Time Frame: Baseline, 52 Weeks ]
    Change (percent change) in GMFM is measured from baseline to end of study (Week 52). GMFM is measured using GMFM-88. The GMFM-88 item scores can be summed to calculate a total GMFM-88 score. For each GMFM-88 item, the score is between 0 (minimal) to 3 (maximum). The total GMFM-88 score is between 0 (minimal) to 264 (maximum). Relative changes in GMFM are calculated as percentage change from baseline divided by the age difference in months between first and last visit. The GMFM score decreases over time, which, indicates that the disease worsened over time. Score over time (SOT), data mentioned over mean represents the adjusted mean.
  • Relative Change in Mullen's Scales of Early Learning [ Time Frame: Baseline, 52 Weeks ]
    Changes in Mullen's Scales of Early Learning are measured from baseline to end of study (Week 52) using Mullen's Scales of Early Learning. T scores, percentile ranks, and age equivalents can be computed for the four scales separately (visual reception, fine motor, expressive language, and receptive language). Relative change is calculated as percentage change from baseline divided by the age-difference in months between first and last visit. When Mullen's score decreases over time, it indicates the disease worsened over time. Data mentioned over mean represents the adjusted mean.


Original Primary Outcome: Relative change in GMFM after 52 weeks of treatment Absolute change in Mullen's Scales of Early Learning, after 52 weeks of treatment. [ Time Frame: 52 weeks of tratment ]

Current Secondary Outcome: Change in Cerebrospinal Fluid (CSF) Sulfatide [ Time Frame: Baseline, 52 Weeks ]

Changes in CSF sulfatide from baseline to end of study (Week 52). Data mentioned over mean represents the adjusted mean.


Original Secondary Outcome: Change in CSF biomarker after 52 weeks of treatment with focus on reduction of sulfatid. [ Time Frame: After 52 weeks of treatment ]

Information By: Shire

Dates:
Date Received: February 29, 2008
Date Started: August 2007
Date Completion:
Last Updated: July 14, 2015
Last Verified: February 2014