Lipid Metabolism DisordersNCT01963650
Natural History Study of Children With Metachromatic Leukodystrophy
An observational study of Lipid Metabolism Disorders and Metachromatic Leukodystrophy (MLD), run by Shire at 14 sites in 10 countries.
Trial summary
The purpose of this study is evaluate the natural course of disease progression related to gross motor function in children with metachromatic leukodystrophy (MLD). Read more about this study
- Who is it for?
- Ages Up to 12 years
- Conditions the study is for
- Lipid Metabolism Disorders, Metachromatic Leukodystrophy (MLD), Nervous System Diseases
- How many people
- 1 participants
- Where
- 14 sitesin 10 countries
- Study dates
- 2 Nov 2015to 8 Apr 2016
- Phase
- Observational
- 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 Up to 12 years
- All sexes
- No healthy volunteers
- Child
Study population: This study will enroll up to 30 male or female children (<12 years of age) with a confirmed MLD diagnosis.
Who may be able to join
- Confirmed diagnosis of MLD by both:
- arylsulfatase A (ASA) deficiency by assay in leukocytes AND
- elevated sulfatide in urine
- Appearance of the first symptoms of disease at or before 30 months of age.
- A GMFM-88 total (percent) score greater than or equal to 40 at the screening examination.
- The patient is less than 12 years of age at the time of enrollment.
- The patient and his/her parent or legally authorized representative(s) must have the ability to comply with the clinical protocol.
- Patient's parent or legally authorized representative(s) must provide written informed consent prior to performing any study-related activities. Study-related activities are any procedures that would not have been performed during normal management of the patient.
Who cannot join
- History of hematopoietic stem cell transplantation.
- The patient 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.
- Any other medical condition, serious intercurrent illness, or extenuating circumstance that, in the opinion of the Investigator, would preclude participation in the study.
- The patient is enrolled in another clinical study that involves the use of any investigational product (drug or device) within 30 days prior to study enrollment or at any time during the study.
Trial locations and contacts
14 sites in 10 countries.
14 sites in 10 countries
United States4 sites
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, 60611
Children's Hospital Of Pittsburgh
Pittsburgh, Pennsylvania, 15224
Harbor UCLA Pediatrics
Torrance, California, 90502
Children's National Health System
Washington D.C., District of Columbia, 20010
Japan2 sites
Faculty Of Medicine, Osaka University Graduate School Of Medicine
Osaka, 565-0871
The Jikei University School Of Medicine - Institute Of Dna Medicine
Tokyo, 105-8461
Belgium1 site
Universitair Ziekenhuis Antwerpen (UZA) (University Hospital Antwerpen)
Edegem, 2650
Brazil1 site
Hospital de Cllnicas de Porto Alegre (HCPA) / UFRGS
Porto Alegre, 90035-003
Germany1 site
Univesitatsklinikum Tubingen Klinik fur Kinder und Jugendmedizin
Tübingen, 72076
Turkey (Türkiye)1 site
Hacettepe Universitesi Tip Fakultesi Onkoloji Hastanesi
Ankara, 6100
About this study
The purpose of this study is evaluate the natural course of disease progression related to gross motor function in children with metachromatic leukodystrophy (MLD).
Read the detailed description
Metachromatic leukodystrophy (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 genetic 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.
This study is a multicenter, observational, longitudinal study that plans to enroll up to 30 patients with onset of MLD-related signs and symptoms prior to 30 months of age and who are less than 12 years of age. Patients will participate in this study for approximately 114 weeks (Screening through Follow-up) and will be assessed at defined intervals for disease status.
- Conditions
- Lipid Metabolism Disorders, Metachromatic Leukodystrophy (MLD), Nervous System Diseases, Brain Diseases, Central Nervous System Diseases, Demyelinating Diseases
- Medical subject headings
- Lipid Metabolism Disorders, Leukodystrophy, Metachromatic, Nervous System Diseases, Brain Diseases, Central Nervous System Diseases, Demyelinating Diseases, Metabolism, Inborn Errors, Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| No treatment | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
The primary endpoint of this study is the change from baseline in motor function using the GMFM-88 total (percent) score.
Measured: Week 0 to Week 104
Secondary outcomes (6)
The change from baseline in ability to swallow as assessed by the Functional Endoscopic Evaluation of Swallowing.
Measured: Week 0 to Week 104
The change from baseline in nerve conduction as measured by the electroneurography.
Measured: Week 0 to Week 104
The change from baseline in the adaptive behavior composite standard score as measured by the Vineland Adaptive Behavior Scales.
Measured: Week 0 to Week 104
The change from baseline in domain-specific Caregiver Observed MLD Functioning and Outcomes Reporting Tool.
Measured: Week 0 to Week 104
The change from baseline in cognitive function using the Mullen Scales of Early Learning.
Measured: Week 0 to Week 104
Reporting of any study procedure-related nonserious AEs and/or any SAEs
Measured: Week 0 to Week 114
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Oct 2013 (estimated)
- Study start2 Nov 2015
- Primary completion8 Apr 2016
- Study completion8 Apr 2016
Why it stopped: Enrollment issues
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Lipid Metabolism DisordersStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 1 participants (actual)
Sponsor and investigators
- Lead sponsor
- Shire
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Study Director, Study director, Takeda
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01963650
- Sponsor's protocol ID
- HGT-MLD-092
- Status last verified
- Mar 2021
- First submitted
- 11 Oct 2013
- Last updated
- 17 Mar 2021
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 17 Mar 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History Study of Children With Metachromatic Leukodystrophy
- ClinicalTrials.gov ID
- NCT01963650
- Acronym / sponsor ID
- HGT-MLD-092
- Conditions
- Lipid Metabolism Disorders, Metachromatic Leukodystrophy (MLD), Nervous System Diseases, Brain Diseases, Central Nervous System Diseases, Demyelinating Diseases
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Enrollment issues
- Enrolment
- 1 participants (actual)
- Lead sponsor
- ShireIndustry (pharma, biotech, devices)
- Study start
- 2 Nov 2015 (actual)
- Primary completion
- 8 Apr 2016 (actual)
- Study completion
- 8 Apr 2016 (actual)
- First posted
- 16 Oct 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The purpose of this study is evaluate the natural course of disease progression related to gross motor function in children with metachromatic leukodystrophy (MLD).
Detailed description
Metachromatic leukodystrophy (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 genetic 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.
This study is a multicenter, observational, longitudinal study that plans to enroll up to 30 patients with onset of MLD-related signs and symptoms prior to 30 months of age and who are less than 12 years of age. Patients will participate in this study for approximately 114 weeks (Screening through Follow-up) and will be assessed at defined intervals for disease status.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| No treatment | – | – |
Who may qualify
- Ages
- Up to 12 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- This study will enroll up to 30 male or female children (<12 years of age) with a confirmed MLD diagnosis.
Key inclusion criteria (8 listed)
- Confirmed diagnosis of MLD by both:
- Appearance of the first symptoms of disease at or before 30 months of age.
- A GMFM-88 total (percent) score greater than or equal to 40 at the screening examination.
- The patient is less than 12 years of age at the time of enrollment.
- The patient and his/her parent or legally authorized representative(s) must have the ability to comply with the clinical protocol.
Key exclusion criteria (4 listed)
- History of hematopoietic stem cell transplantation.
- The patient 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.
- Any other medical condition, serious intercurrent illness, or extenuating circumstance that, in the opinion of the Investigator, would preclude participation in the study.
- The patient is enrolled in another clinical study that involves the use of any investigational product (drug or device) within 30 days prior to study enrollment or at any time during the study.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
The primary endpoint of this study is the change from baseline in motor function using the GMFM-88 total (percent) score.
Time frame: Week 0 to Week 104
6 secondary outcomes
The change from baseline in ability to swallow as assessed by the Functional Endoscopic Evaluation of Swallowing.
Time frame: Week 0 to Week 104
The change from baseline in nerve conduction as measured by the electroneurography.
Time frame: Week 0 to Week 104
The change from baseline in the adaptive behavior composite standard score as measured by the Vineland Adaptive Behavior Scales.
Time frame: Week 0 to Week 104
The change from baseline in domain-specific Caregiver Observed MLD Functioning and Outcomes Reporting Tool.
Time frame: Week 0 to Week 104
The change from baseline in cognitive function using the Mullen Scales of Early Learning.
Time frame: Week 0 to Week 104
Reporting of any study procedure-related nonserious AEs and/or any SAEs
Time frame: Week 0 to Week 114
Results and safety
The study was stopped early (reason given: Enrollment issues). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Mar 2021.
- To obtain more information on the study, click here/on this link.Link provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Study Director study director
Takeda
14 sites in 10 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Lipid Metabolism Disorders and Metachromatic Leukodystrophy (MLD), run by Shire at 14 sites in 10 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 8 inclusion and 4 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: stopped early, as of the sponsor's last update on 17 Mar 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 14 sites in United States, Japan, Argentina, Belgium, Brazil and 5 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.
Are results available for this study?
The study was stopped early (reason given: Enrollment issues). Results are not available in the source record.
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?
The primary endpoint of this study is the change from baseline in motor function using the GMFM-88 total (percent) score. (time frame: Week 0 to Week 104). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 17 Mar 2021.