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Natural History Study of Children With Metachromatic Leukodystrophy

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01963650
Recruitment Status : Terminated (Enrollment issues)
First Posted : October 16, 2013
Last Update Posted : March 17, 2021
Information provided by (Responsible Party):
Takeda ( Shire )

Brief 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).

Condition or disease
Lipid Metabolism Disorders Metachromatic Leukodystrophy (MLD) Nervous System Diseases Brain Diseases Central Nervous System Diseases Demyelinating Diseases Metabolism, Inborn Errors Genetic Diseases, Inborn Sphingolipidoses Hereditary Central Nervous System Demyelinating Diseases Metabolic Inborn Brain Diseases Lysosomal Storage Diseases Metabolic Diseases Sulfatidosis

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.

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Study Type : Observational
Actual Enrollment : 1 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Natural History Study of Children With Metachromatic Leukodystrophy
Actual Study Start Date : November 2, 2015
Actual Primary Completion Date : April 8, 2016
Actual Study Completion Date : April 8, 2016

No treatment

Primary Outcome Measures :
  1. 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 ]

Secondary Outcome Measures :
  1. The change from baseline in ability to swallow as assessed by the Functional Endoscopic Evaluation of Swallowing. [ Time Frame: Week 0 to Week 104 ]
  2. The change from baseline in nerve conduction as measured by the electroneurography. [ Time Frame: Week 0 to Week 104 ]
  3. 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 ]
  4. The change from baseline in domain-specific Caregiver Observed MLD Functioning and Outcomes Reporting Tool. [ Time Frame: Week 0 to Week 104 ]
  5. The change from baseline in cognitive function using the Mullen Scales of Early Learning. [ Time Frame: Week 0 to Week 104 ]
  6. Reporting of any study procedure-related nonserious AEs and/or any SAEs [ Time Frame: Week 0 to Week 114 ]

Biospecimen Retention:   Samples With DNA
Sample for genotype testing is collected and any remaining sample is retained for follow up or repeat testing. The sample is not retained for unspecified additional testing.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   up to 12 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
This study will enroll up to 30 male or female children (<12 years of age) with a confirmed MLD diagnosis.

Inclusion Criteria:

  1. Confirmed diagnosis of MLD by both:

    • arylsulfatase A (ASA) deficiency by assay in leukocytes AND
    • elevated sulfatide in urine
  2. Appearance of the first symptoms of disease at or before 30 months of age.
  3. A GMFM-88 total (percent) score greater than or equal to 40 at the screening examination.
  4. The patient is less than 12 years of age at the time of enrollment.
  5. The patient and his/her parent or legally authorized representative(s) must have the ability to comply with the clinical protocol.
  6. 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.

Exclusion Criteria:

  1. History of hematopoietic stem cell transplantation.
  2. 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.
  3. Any other medical condition, serious intercurrent illness, or extenuating circumstance that, in the opinion of the Investigator, would preclude participation in the study.
  4. 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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01963650

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United States, California
Harbor UCLA Pediatrics
Torrance, California, United States, 90502
United States, District of Columbia
Children's National Health System
Washington, District of Columbia, United States, 20010
United States, Illinois
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, United States, 60611
United States, Pennsylvania
Children's Hospital Of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15224
Hospital Universitario Austral
Pilar, Argentina, B1629ODT
Universitair Ziekenhuis Antwerpen (UZA) (University Hospital Antwerpen)
Edegem, Belgium, 2650
Hospital de Cllnicas de Porto Alegre (HCPA) / UFRGS
Porto Alegre, Brazil, 90035-003
Montreal Children's Hospital
Westmount, Canada, H3Z 2Z3
Copenhagen University Hospital, Rigshospitalet
Copenhagen, Denmark, 2100
Hôpital De Bicêtre
Le Kremlin Bicêtre, France, 94275
Univesitatsklinikum Tubingen Klinik fur Kinder und Jugendmedizin
Tubingen, Germany, 72076
Faculty Of Medicine, Osaka University Graduate School Of Medicine
Osaka, Japan, 565-0871
The Jikei University School Of Medicine - Institute Of Dna Medicine
Tokyo, Japan, 105-8461
Hacettepe Universitesi Tip Fakultesi Onkoloji Hastanesi
Ankara, Turkey, 6100
Sponsors and Collaborators
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Study Director: Study Director Takeda
Additional Information:
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Responsible Party: Shire Identifier: NCT01963650    
Other Study ID Numbers: HGT-MLD-092
First Posted: October 16, 2013    Key Record Dates
Last Update Posted: March 17, 2021
Last Verified: March 2021
Additional relevant MeSH terms:
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Nervous System Diseases
Brain Diseases
Central Nervous System Diseases
Leukodystrophy, Metachromatic
Demyelinating Diseases
Hereditary Central Nervous System Demyelinating Diseases
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Metabolism, Inborn Errors
Metabolic Diseases
Lipid Metabolism Disorders
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Lysosomal Storage Diseases, Nervous System
Lipid Metabolism, Inborn Errors
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases