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Metachromatic Leukodystrophy (MLD)Phase 1/2NCT01887938

An Efficacy and Safety Study of HGT-1110 in Participants With Metachromatic Leukodystrophy

A Phase 1/2 study testing HGT-1110 in people with Metachromatic Leukodystrophy (MLD), run by Shire at 15 sites in 7 countries.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial summary

The purpose of this study is to collect long-term safety data in participants with metachromatic leukodystrophy (MLD) who are receiving HGT-1110 and have participated in Study HGT-MLD-070 (NCT01510028) through Week 40. Read more about this study

Who is it for?
Ages 0 to 13 years
Conditions the study is for
Metachromatic Leukodystrophy (MLD)
What is being tested?
HGT-1110
Type of treatment
Injection or infusion
Could I receive a placebo?
No, everyone receives an active treatment
How many people
24 participants
Where
15 sitesin 7 countries
Study dates
23 May 2013to 13 Feb 2026
Phase
Phase 1/2
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 0 to 13 years
  • All sexes
  • No healthy volunteers
  • Child

Who may be able to join

  • Participant has participated in Study HGT-MLD-070 (NCT01510028) through Week 40.
  • Participant must have no safety or medical issues that contraindicate participation.
  • The participant, participant's parent(s), or legally authorized representative(s) must provide written informed consent and/or assent (if applicable) prior to performing any study-related activities.

Who cannot join

  • The participant is unable to comply with the protocol (example, is unable to return for safety evaluations, or is otherwise unlikely to complete the study) as determined by the investigator.
  • Undergoes bone marrow transplant (BMT), hematopoietic stem cell transplantation (HSCT), or gene therapy at any point during the study.
  • The participant has any known or suspected hypersensitivity to agents used for anesthesia or is thought to be at an unacceptably high risk for associated potential complications of airway compromise or other conditions.
  • The participant is pregnant or breastfeeding.
  • The participant is enrolled in another clinical study that involves clinical investigations or use of any investigational product (drug or drug delivery device) other than those used in HGT-MLD-070 (NCT01510028) within 6 months prior to study enrollment or at any time during the study.
  • The participant has a condition that is contraindicated as described in the SOPH-A-PORT Mini SIDDD Instructions for Use (IFU), including:
Show all 13Show fewer
  • The participant has had, or may have, an allergic reaction to the materials of construction of the SOPH-A-PORT Mini S device.
  • The participant's body size is too small to support the size of the SOPH-A-PORT Mini S Access Port, as judged by the investigator.
  • The participant has a known or suspected local or general infection.
  • The participant is at risk of abnormal bleeding due to a medical condition or therapy.
  • The participant has one or more spinal abnormalities that could complicate safe implantation or fixation.
  • The participant has a functioning CSF shunt device.
  • The participant has shown an intolerance to an implanted device.

Trial locations and contacts

15 sites in 7 countries.

15 sites in 7 countries

France5 sites

  • Hopital Femme Mere Enfant

    Bron, 69 677

  • Hôpital de Bicêtre

    Le Kremlin-Bicêtre, Île-de-France Region, 94275

  • Hopital Gui de Chauliac - CHRU de Montpellier

    Montpellier, 34000

  • CHU de Nantes

    Nantes, 44093

  • CHR Orleans - Hopital La Source

    Orléans, 45067

Other trials in France

Germany3 sites

  • Klinikum Oldenburg

    Oldenburg, 26133

  • Center for Pediatric Clinical Studies (CPCS)

    Tübingen, Baden-Wurttemberg, 72076

  • Marien-Hospital Wesel gGmbh

    Wesel, 46483

Other trials in Germany

Japan3 sites

  • Kitakyushu Municipal Yahata Hospital

    Fukuoka, 805-8534

  • Kurashiki Central Hospital

    Okayama Prefecture, 710-8602

  • Osaka University Hospital

    Osaka, 565-0871

Other trials in Japan

Australia1 site

  • The Children's Hospital at Westmead

    Westmead, 2145

Other trials in Australia

Brazil1 site

  • Hospital de Clinicas de Porto Alegre

    Porto Alegre, 90035-003

Other trials in Brazil

Czechia1 site

  • Detska Interni Klinika, Lf Mu A Fn Brno

    Brno, 61300

Other trials in Czechia

Denmark1 site

  • Rigshospitalet

    Copenhagen, 2100

Other trials in Denmark

About this study

Official title: An Open-Label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients With Metachromatic Leukodystrophy

The purpose of this study is to collect long-term safety data in participants with metachromatic leukodystrophy (MLD) who are receiving HGT-1110 and have participated in Study HGT-MLD-070 (NCT01510028) through Week 40.

Read the detailed description

MLD is an inherited, autosomal recessive disorder of lipid metabolism characterized by deficient activity of the lysosomal enzyme, arylsulfatase A (ASA). MLD is a rare orphan disease that occurs in most parts of the world. The estimated overall incidence of the disease in the western world is approximately 1 in 100,000 live births that varies by geographic location. There are no approved therapies for MLD.

This study is a multicenter open-label study designed to evaluate safety and efficacy outcomes of HGT-1110 administered intrathecally in children with MLD who have participated in the dose escalation study, HGT-MLD-070 (NCT01510028), through Week 40 and are receiving study drug every other week (EOW).

Treatment groups will be identical to those in HGT-MLD-070 (NCT01510028), ie, participants assigned to Cohort 1 in Study HGT-MLD-070 (NCT01510028) will continue to receive a dose of 10 milligrams (mg), participants assigned to Cohort 2 in Study HGT-MLD-070 (NCT01510028) will continue to receive a dose of 30 mg, and participants assigned to Cohorts 3 and 4 in Study HGT-MLD-070 (NCT01510028) will continue to receive a dose of 100 mg. Participants in Cohort 4 are to exclusively receive drug product produced with Process B in Study HGT-MLD-070 (NCT01510028) and will continue receiving this drug product in this study. Participants enrolled in this study from Cohorts 1 to 3 in Study HGT-MLD-070 (NCT01510028) were transitioned to Process B after all necessary approvals were obtained. In HGT-MLD-071, all participants in the 10 mg dose cohort who experienced disease progression, as determined by the Investigator, increased to the 30 mg dose after agreement by the Medical Monitor. Based on the interim analysis results from HGT-MLD-070 (NCT01510028 [Cohorts 1-3]), the dose of HGT-1110 will be increased to 100 mg for all participants in HGT-MLD-071 after all necessary approvals were obtained.

Being tested
HGT-1110
Medical subject headings
Leukodystrophy, Metachromatic

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • HGT-1110Biological

    Also called Recombinant human arylsulfatase A

    Participants will receive IT injection of HGT-1110.

Study groups in NCT01887938
Study groupRoleWhat they receive
Cohort 1ExperimentalParticipants will receive 10 milligram (mg) of HGT-1110 (Recombinant human arylsulfatase A) intrathecal (IT) injection every-other-week (EOW).
Receives: Biological: HGT-1110
Cohort 2ExperimentalParticipants will receive 30 mg of HGT-1110 IT injection EOW.
Receives: Biological: HGT-1110
Cohort 3ExperimentalParticipants will receive 100 mg of HGT-1110 IT injection EOW.
Receives: Biological: HGT-1110
Cohort 4ExperimentalParticipants will receive 100 mg of HGT-1110 IT injection once weekly for 12 weeks followed by 150 mg EOW.
Receives: Biological: HGT-1110

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Number of Participants With Treatment-Emergent Adverse Events (TEAEs)

    An AE is any noxious, pathologic, or unintended change in anatomical, physiologic, or metabolic function as indicated by physical signs, symptoms, or laboratory changes occurring in any phase of a clinical study, whether or not considered investigational drug product-related. TEAEs are defined as all AEs occurring or worsening at or after the first dose of investigational drug product in HGT-MLD-071 or ongoing from HGT-MLD-070 at the time of enrollment into HGT-MLD-071.

    Measured: Baseline to Follow-up (Week 628)

  2. Presence of Anti-HGT-1110 Antibodies in Cerebrospinal Fluid (CSF) and Serum

    The presence of anti-HGT-1110 antibodies in CSF and serum will be assessed.

    Measured: Baseline until end of the study (Week 624)

Secondary outcomes (12)

  1. Change From Baseline in Motor Function as Assessed by Gross Motor Function Measure (GMFM-88) Total Score at Week 624

    The GMFM-88 item scores can be used to calculate a domain-specific percent score for each of the 5 GMFM-88 dimensions, which are the following: Lying and rolling; Sitting; Crawling and kneeling; Standing; Walking, running, and jumping. Each of the 88 items is rated on a 4-point scale: 0=does not initiate; 1=initiates; 2=partially completes; and 3=completes. The GMFM-88 total scores range from 0% (no mobility) to a score of 100%, that is (i.e,) the score that can be obtained by an average 5-year-old or older child with normal motor abilities. The domain-specific percent scores are averaged to obtain the total score (percent).

    Measured: Baseline, Week 624

  2. Change From Baseline in the Adaptive Behavior Composite Standard Score Measured by the Vineland Adaptive Behavior Scales, Second Edition (VABS-II)

    The VABS-II test measures adaptive behaviors, including the ability to cope with environmental changes, to learn new everyday skills, and to demonstrate independence. This test measures the following 4 key domains: communication, daily living skills, socialization, motor skills, and the adaptive behavior composite (a composite of the other 4 domains). The ABC score ranges from 20 to 160 on which higher scores indicate a higher level of adaptive functioning. A positive change value indicates improvement in adaptive functioning.

    Measured: Baseline, Week 624

  3. Change From Baseline in the Domain-Specific Caregiver Observed Metachromatic Leukodystrophy Functioning and Outcomes Reporting Tool (COMFORT) Scores

    The COMFORT is a questionnaire that will be used to assess health status and the impact of disease on the ability of participants with MLD to carry out activities of daily life. The questionnaire is organized by 8 domains (that is, Personal Care, Positioning, Transfer or Mobility, Eating, Pain and Discomfort During the Day, Sleep, Emotions, Communication, Play and Leisure Activities) and will be completed by the participant's parent(s) or legal representative(s). It will be conducted in available validated languages. The COMFORT scores range from 0 to 100, with higher scores indicating a decline in the functioning.

    Measured: Baseline, Week 624

  4. Maximum Observed Serum Concentration (Cmax) of HGT-1110

    The Cmax of HGT-1110 will be assessed.

    Measured: Pre-dose, 0.5, 1, 2, 4, 8, 12, 24, and 48 hours post-dose on Weeks 104, 258, 364 and 622 in Cohort 4 and Week 8 in Cohorts 1-3

  5. Time of Maximum Observed Serum Concentration (Tmax) of HGT-1110

    The Tmax of HGT-1110 will be assessed.

    Measured: Pre-dose, 0.5, 1, 2, 4, 8, 12, 24, and 48 hours post-dose on Weeks 104, 258, 364 and 622 in Cohort 4 and Week 8 in Cohorts 1-3

  6. Area Under the Serum Concentration-Time Curve From Time Zero to the Last Sampling Time at Which Serum Concentrations Were Measurable (AUC0-last) of HGT-1110

    The AUC0-last of HGT-1110 will be assessed.

    Measured: Pre-dose, 0.5, 1, 2, 4, 8, 12, 24, and 48 hours post-dose on Weeks 104, 258, 364 and 622 in Cohort 4 and Week 8 in Cohorts 1-3

  7. Area Under the Serum Concentration-Time Curve Extrapolated to Infinity (AUC0-inf) of HGT-1110

    The AUC0-inf of HGT-1110 will be assessed.

    Measured: Pre-dose, 0.5, 1, 2, 4, 8, 12, 24, and 48 hours post-dose on Weeks 104, 258, 364 and 622 in Cohort 4 and Week 8 in Cohorts 1-3

  8. Apparent Terminal Rate Constant (lambda z) of HGT-1110

    The lambda z of HGT-1110 will be assessed.

    Measured: Pre-dose, 0.5, 1, 2, 4, 8, 12, 24, and 48 hours post-dose on Weeks 104, 258, 364 and 622 in Cohort 4 and Week 8 in Cohorts 1-3

  9. Terminal Half-Life (t1/2) of HGT-1110

    The t1/2 of HGT-1110 will be assessed.

    Measured: Pre-dose, 0.5, 1, 2, 4, 8, 12, 24, and 48 hours post-dose on Weeks 104, 258, 364 and 622 in Cohort 4 and Week 8 in Cohorts 1-3

  10. Clearance (CL/F) of HGT-1110

    The CL/F of HGT-1110 will be assessed.

    Measured: Pre-dose, 0.5, 1, 2, 4, 8, 12, 24, and 48 hours post-dose on Weeks 104, 258, 364 and 622 in Cohort 4 and Week 8 in Cohorts 1-3

  11. Volume of Distribution (Vz/F) of HGT-1110

    The Vz/F of HGT-1110 will be assessed.

    Measured: Pre-dose, 0.5, 1, 2, 4, 8, 12, 24, and 48 hours post-dose on Weeks 104, 258, 364 and 622 in Cohort 4 and Week 8 in Cohorts 1-3

  12. Concentrations of HGT-1110 in Cerebrospinal Fluid (CSF)

    Concentrations of HGT-1110 in CSF will be assessed.

    Measured: Baseline to End of the study (Week 624)

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted27 Jun 2013 (estimated)
  2. Study start23 May 2013
  3. Primary completion13 Feb 2026
  4. Study completion13 Feb 2026

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Interventional
Phase
Phase 1/2
Primary purpose
Treatment
Allocation
Non-randomised
Intervention model
Parallel groups
Masking
None (open label)
Enrolment
24 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT01887938
Sponsor's protocol ID
HGT-MLD-071
Other IDs
2012-003775-20, 2024-514403-34-00
Status last verified
Apr 2026
First submitted
20 Jun 2013
Last updated
21 Apr 2026
Results posted
No
Data monitoring committee
Yes
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No: \- De-identified individual participant data from this particular study will not be shared as there is a reasonable likelihood that individual patients could be re-identified (due to the limited number of study participants/study sites, …)

Questions about this trial

What is this clinical trial studying?

A Phase 1/2 study testing HGT-1110 in people with Metachromatic Leukodystrophy (MLD), run by Shire at 15 sites in 7 countries.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 3 inclusion and 13 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 21 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 15 sites in France, Germany, Japan, Australia, Brazil and 2 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

What does this combined phase mean?

Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.

Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.

Not every study follows the same path, and some studies (observational studies, device studies) have no phase.

Are results available for this study?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Number of Participants With Treatment-Emergent Adverse Events (TEAEs) (time frame: Baseline to Follow-up (Week 628)). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT01887938.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 21 Apr 2026.

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