The Natural History of Metachromatic Leukodystrophy

NCT00639132 | Withdrawn

• 1 other identifier: NH-US
• Study Type: observational
• Target: N/A
• Locations: 0 countries
• Sites: N/A

Brief Summary

There have not been longitudinal studies which track patients' neurologically or developmentally in a systematic manner. By simultaneously tracking patients' neurodevelopment along with neuroimaging and neurophysiologic studies it becomes much easier to draw conclusions on the differential effects of the disease process and any available treatments that patients might receive. In addition, many of the gene mutations, which cause MLD have not been linked to the age of onset or the expected disease course.

Conditions

Metachromatic Leukodystrophy

Keywords

Natural History; Metachromatic Leukodystrophy; Disease Progression

Outcome Measures

Primary Outcomes (1)

• Results of cognitive and motor testing

  Patients receive standardized neurodevelopmental testing Cognitive Motor Language

  baseline, 6 months, 12 months and then yearly

Secondary Outcomes (2)

• Audiology

  baseline, 6, 12, then yearly

• MRI

  yearly

Eligibility Criteria

• Age: Up to 6 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Patients with biochemical evidence of MLD including low levels of arylsulphatase A white cell activity and increased amounts of urinary sulphatide excretion are eligible for the study. A total of 10 patients representing various ranges of disease severity are expected to enroll.

You may qualify if:

• The patient must have a confirmed diagnosis of MLD as defined by:
• ASA activity \< 10 nmol/h/mg in leukocytes
• Presence of elevated sulfatide in urine
• The patient must have voluntary function (as judged by the investigator), including cognitive and motor function that is no more than 3 standard deviations below normal at the time of enrollment.
• The patient must have an age at the time of screening birth to \< 6 years
• The patient must have had onset of symptoms before the age of 4 years
• The subject and his/her guardian(s) must have the ability to comply with the clinical protocol

You may not qualify if:

• Known multiple sulfatase deficiency
• Presence of major congenital abnormality
• Presence of known chromosomal abnormality and other neurological conditions unrelated to MLD that can affect psychomotor development
• History of hematopoietic stem cell transplantation
• Presence of known clinically significant cardiovascular, hepatic, pulmonary or renal disease or other medical condition
• Any other medical condition or serious intercurrent illness, or extenuating circumstance that, in the opinion of the principal investigator, would preclude participation in the trial
• Use of any investigational product within 30 days prior to study enrollment or currently enrolled in another study which involves clinical investigations.
• The patient's parent(s) and/or legal guardian is unable to understand the nature, scope, and possible consequences of the study.
• Patient is unable to comply with the protocol, i.e. inability to return for follow-up evaluations or otherwise unlikely to complete the study as determined by the principal investigator.

Sponsors & Collaborators

• University of Pittsburgh: lead

Biospecimen

Retention: SAMPLES WITH DNA

blood, CSF and urine

MeSH Terms

Conditions

Leukodystrophy, Metachromatic; Disease Progression

Condition Hierarchy (Ancestors)

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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: March 11, 2008
• First Posted: March 19, 2008
• Study Start: March 11, 2008
• Primary Completion: January 30, 2022
• Study Completion: February 1, 2022
• Last Updated: May 30, 2024

Record last verified: 2024-05