Adults 3 to 6, any sex, with Late Infantile Metachromatic Leukodystrophy. Patients with the condition only — healthy volunteers not accepted.
Results — posted to ClinicalTrials.gov
Per-arm endpoint measurements with 95% confidence intervals where reported. Source: trial results section.
Level of Cerebrospinal Fluid (CSF) SulfatideSecondary· Baseline until end of study (Week 139)
Level of CSF sulfatide measured at 6-month intervals in HGT-MLD-049 (NCT00681811).
Group
Value
95% CI
100 U/kg HGT-1111 (Month 6)
685.0
± 522.79
200 U/kg HGT-1111 (Month 6)
732.5
± 545.06
100 U/kg HGT-1111 (Month 12)
745.0
± 525.12
200 U/kg HGT-1111 (Month 12)
1150.0
± 676.39
100 U/kg HGT-1111 (Month 18)
700.0
± 526.78
200 U/kg HGT-1111 (Month 18)
850.0
± 491.81
100 U/kg HGT-1111 (Month 24)
900.0
± NA
200 U/kg HGT-1111 (Month 24)
837.5
± 441.94
Level of White Matter MetabolitesSecondary· Baseline until end of study (Week 139)
Level of white matter metabolites \[N-acetyl Aspartate (NAA)\] measured at 6-month intervals in HGT-MLD-049 (NCT00681811).
Group
Value
95% CI
100 U/kg HGT-1111 (Month 6)
0.528
± 0.176
200 U/Kg-HGT-1111(Month 6)
0.385
± 0.237
100 U/kg- HGT-1111 (Month 12)
0.598
± 0.208
200 U/kg HGT-1111 (Month 12)
0.470
± 0.198
100 U/kg- HGT-1111(Month 18)
0.510
± 0.141
200 U/kg HGT-1111 (Month 18)
0.805
± 0.445
Score of Gross Motor Function Measurement (GMFM)Secondary· Baseline until end of study (Week 139)
Gross motor function was measured using GMFM-88 at 6-month intervals. The GMFM-88 item scores were summed to calculate a total GMFM-88 score. For each GMFM-88 item, the score was between 0 (minimal) to 3 (maximum). The total GMFM-88 score was between 0 (minimal) to 264 (maximum). Decrease in GMFM score indicates disease progression.
Group
Value
95% CI
100 U/kg HGT-1111 (Month 6)
16.8
± 11.30
200 U/kg HGT-1111 (Month 6)
9.2
± 11.71
100 U/kg HGT-1111 (Month 12)
15.6
± 15.84
200 U/kg HGT-1111 (Month 12)
8.7
± 9.29
100 U/kg HGT-1111 (Month 18)
16.8
± 13.60
200 U/kg HGT-1111 (Month 18)
9.0
± 5.66
100 U/kg HGT-1111 (Month 24)
14.5
± 10.61
200 U/kg HGT-1111 (Month 24)
13.0
± 11.31
Days of Exposure to HGT-1111Primary· Baseline until end of study (Week 139)
End of study was defined as until HGT-1111 was commercially available, the participant's participation was discontinued, or the study was terminated by the Sponsor.
Group
Value
95% CI
100 U/kg HGT-1111
644.7
± 276.11
200 U/kg HGT-1111
544.8
± 397.27
Adverse events — posted to ClinicalTrials.gov
Time frame: Up to end of study (Week 139) which was defined as until HGT-1111 was commercially available, the patient's participation was discontinued, or the study was terminated by the Sponsor..
Reporting threshold: 5%.
Adverse-event reports describe events observed during the trial — not all are caused by the drug.
This is a multi-center, open-label, extension study of patients with late infantile MLD who have previously completed clinical study HGT-MLD-048 (NCT00633139), defined as the completion of all Week 52 procedures. This group of patients will be offered ongoing treatment with HGT-1111 in this protocol. One infusion will be given every other week until the product is commercially available, the patient discontinues, or the study is terminated by the Sponsor, provided no safety issues have emerged.
Publications & conference data
7 peer-reviewed publications reference this trial (live from Europe PMC):
Publications: Europe PMC API search by NCT ID, retrieved 10 June 2026
Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
Sponsor: as reported to ClinicalTrials.gov by Shire
Last refreshed: 8 June 2021
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT00681811.