Trial record 3 of 43 for:    Leukodystrophy

Natural History Study of Children With Metachromatic Leukodystrophy

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2014 by Shire
Sponsor:
Collaborator:
ICON Clinical Research
Information provided by (Responsible Party):
Shire
ClinicalTrials.gov Identifier:
NCT01963650
First received: October 11, 2013
Last updated: March 20, 2014
Last verified: March 2014
  Purpose

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 Intervention
Leukodystrophy, Metachromatic
Hereditary Central Nervous System Demyelinating Diseases
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Sulfatidosis
Sphingolipidoses
Lysosomal Storage Diseases, Nervous System
Leukoencephalopathies
Demyelinating Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Other: Natural History Study of Children With Metachromatic Leukodystrophy

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Natural History Study of Children With Metachromatic Leukodystrophy

Resource links provided by NLM:


Further study details as provided by Shire:

Primary Outcome Measures:
  • 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 ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • The change from baseline in ability to swallow as assessed by the Functional Endoscopic Evaluation of Swallowing. [ Time Frame: Week 0 to Week 104 ] [ Designated as safety issue: No ]
  • The change from baseline in nerve conduction as measured by the electroneurography. [ Time Frame: Week 0 to Week 104 ] [ Designated as safety issue: No ]
  • 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 ] [ Designated as safety issue: No ]
  • The change from baseline in domain-specific Caregiver Observed MLD Functioning and Outcomes Reporting Tool. [ Time Frame: Week 0 to Week 104 ] [ Designated as safety issue: No ]
  • The change from baseline in cognitive function using the Mullen Scales of Early Learning. [ Time Frame: Week 0 to Week 104 ] [ Designated as safety issue: No ]
  • Reporting of any study procedure-related nonserious AEs and/or any SAEs [ Time Frame: Week 0 to Week 114 ] [ Designated as safety issue: Yes ]
  • Change from baseline in CSF, serum, and urine biomarkers. [ Time Frame: Week 0 to Week 104 ] [ Designated as safety issue: No ]
  • The change from baseline in the total MLD severity score as based on magnetic resonance imaging. [ Time Frame: Week 0 to Week 104 ] [ Designated as safety issue: No ]
  • Percent change from baseline in the deep white matter of the brain as obtained by magnetic resonance spectroscopy. [ Time Frame: Week 0 to Week 104 ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Blood, urine and cerebrospinal fluid (CSF)specimens will be collected and maintained for potential future analysis.


Estimated Enrollment: 30
Study Start Date: December 2013
Estimated Study Completion Date: August 2017
Estimated Primary Completion Date: July 2017 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
No treatment Other: Natural History Study of Children With Metachromatic Leukodystrophy

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.

  Eligibility

Ages Eligible for Study:   up to 12 Years
Genders Eligible for Study:   Both
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.

Criteria

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 15 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.
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01963650

Contacts
Contact: Eric Crombez, MD +1-617-349-0200 ECrombez@shire.com

Locations
United States, California
Harbor UCLA Pediatrics Recruiting
Torrance, California, United States, 90502
Contact: Carmen Sanchez       carmensanchez@labiomed.org   
Principal Investigator: Patricia Dickson, MD         
United States, District of Columbia
Children's National Health System Recruiting
Washington, District of Columbia, United States, 20010
Contact: Amy Pizzino       myelindisorders@childrensnational.org   
Principal Investigator: Adeline Vanderver, MD         
United States, Illinois
Ann & Robert H. Lurie Children's Hospital of Chicago Recruiting
Chicago, Illinois, United States, 60611
Contact: Barbara Burton, MD    312-227-6120    b-burton1@northwestern.edu   
Principal Investigator: Barbara Burton, MD         
Sponsors and Collaborators
Shire
ICON Clinical Research
Investigators
Study Director: Eric Crombez, MD Shire Human Genetic Therapies
  More Information

No publications provided

Responsible Party: Shire
ClinicalTrials.gov Identifier: NCT01963650     History of Changes
Other Study ID Numbers: HGT-MLD-092
Study First Received: October 11, 2013
Last Updated: March 20, 2014
Health Authority: United States: Institutional Review Board

Additional relevant MeSH terms:
Leukodystrophy, Metachromatic
Brain Diseases
Brain Diseases, Metabolic
Central Nervous System Diseases
Demyelinating Diseases
Genetic Diseases, Inborn
Lipid Metabolism, Inborn Errors
Lipidoses
Metabolic Diseases
Metabolism, Inborn Errors
Nervous System Diseases
Sphingolipidoses
Lipid Metabolism Disorders
Lysosomal Storage Diseases
Leukoencephalopathies
Lysosomal Storage Diseases, Nervous System
Hereditary Central Nervous System Demyelinating Diseases
Brain Diseases, Metabolic, Inborn
Sulfatidosis
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases

ClinicalTrials.gov processed this record on August 28, 2014