Natural History Study of Children With Metachromatic Leukodystrophy

NCT01963650 | Terminated

• 1 other identifier: HGT-MLD-092
• Study Type: observational
• Target: 1
• Locations: 10 countries
• Sites: 14

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).

Conditions

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

Outcome Measures

Primary Outcomes (1)

• The primary endpoint of this study is the change from baseline in motor function using the GMFM-88 total (percent) score.

  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.

  Week 0 to Week 104

• The change from baseline in nerve conduction as measured by the electroneurography.

  Week 0 to Week 104

• The change from baseline in the adaptive behavior composite standard score as measured by the Vineland Adaptive Behavior Scales.

  Week 0 to Week 104

• The change from baseline in domain-specific Caregiver Observed MLD Functioning and Outcomes Reporting Tool.

  Week 0 to Week 104

• The change from baseline in cognitive function using the Mullen Scales of Early Learning.

  Week 0 to Week 104

Study Arms (1)

No treatment

Eligibility Criteria

• Age: Up to 12 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Shire: lead

Study Sites (14)

Harbor UCLA Pediatrics

Torrance, California, 90502, United States

Location

Children's National Health System

Washington D.C., District of Columbia, 20010, United States

Location

Ann & Robert H. Lurie Children's Hospital of Chicago

Chicago, Illinois, 60611, United States

Location

Children's Hospital Of Pittsburgh

Pittsburgh, Pennsylvania, 15224, United States

Location

Hospital Universitario Austral

Pilar, B1629ODT, Argentina

Location

Universitair Ziekenhuis Antwerpen (UZA) (University Hospital Antwerpen)

Edegem, 2650, Belgium

Location

Hospital de Cllnicas de Porto Alegre (HCPA) / UFRGS

Porto Alegre, 90035-003, Brazil

Location

Montreal Children's Hospital

Westmount, H3Z 2Z3, Canada

Location

Copenhagen University Hospital, Rigshospitalet

Copenhagen, 2100, Denmark

Location

Hôpital De Bicêtre

Le Kremlin-Bicêtre, 94275, France

Location

Univesitatsklinikum Tubingen Klinik fur Kinder und Jugendmedizin

Tübingen, 72076, Germany

Location

Faculty Of Medicine, Osaka University Graduate School Of Medicine

Osaka, 565-0871, Japan

Location

The Jikei University School Of Medicine - Institute Of Dna Medicine

Tokyo, 105-8461, Japan

Location

Hacettepe Universitesi Tip Fakultesi Onkoloji Hastanesi

Ankara, 6100, Turkey (Türkiye)

Location

Related Links

• To obtain more information on the study, click here/on this link.

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.

MeSH Terms

Conditions

Lipid Metabolism Disorders; Leukodystrophy, Metachromatic; Nervous System Diseases; Brain Diseases; Central Nervous System Diseases; Demyelinating Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Sphingolipidoses; Hereditary Central Nervous System Demyelinating Diseases; Brain Diseases, Metabolic, Inborn; Lysosomal Storage Diseases; Metabolic Diseases; Sulfatidosis

Condition Hierarchy (Ancestors)

Nutritional and Metabolic Diseases; Brain Diseases, Metabolic; Lysosomal Storage Diseases, Nervous System; Leukoencephalopathies; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases

Study Officials

• Study Director

  Takeda

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 11, 2013
• First Posted: October 16, 2013
• Study Start: November 2, 2015
• Primary Completion: April 8, 2016
• Study Completion: April 8, 2016
• Last Updated: March 17, 2021

Record last verified: 2021-03

Locations

BE (1); TU (1); DK (1); DE (1); AR (1); BR (1); JP (2); CA (1); FR (1); US (4)