Imaging Study of the White Matter Lesions in Children With Metachromatic Leucodystrophy

NCT01325025 | Completed

• 1 other identifier: P071232
• Study Type: interventional
• Target: 29
• Locations: 1 country
• Sites: 3

Brief Summary

High-field MRI and diffusion tensor imaging with 3D reconstruction of the myelin tracks, in combination with multivoxel proton spectroscopy, will allow to precise more accurately the evolution of the white matter lesions in patients affected with Metachromatic Leukodystrophy (particularly in the initial phase of the disease). This will increase the knowledge of the disease and provide new indicators for the selection and evaluation of patients eligible for new therapeutic approaches.

Conditions

Late Infantile Metachromatic Leukodystrophy

Keywords

Metachromatic Leukodystrophy; Demyelinating Diseases; Magnetic Resonance Imaging; Diffusion Tensor Imaging; Relaxometry; Spectroscopy; Longitudinal Studies

Outcome Measures

Primary Outcomes (1)

• Assess the natural history of the white matter and cortex lesions in MLD using diffusion tensor imaging (DTI)and relaxometry/ high field MRI.

  The following parameters will be studied: quantitative measurements of mean diffusivity, longitudinal and transverse fractional anisotropy in ROIs (regions of interest), 3D-tractographic reconstruction of the myelin tracks.

  At inclusion (T0) and 12 months for control. At T0 then at 6 months for patients

Secondary Outcomes (3)

• Assess the natural history of the white matter and cortex lesions in MLD using using multi-voxel spectroscopic imaging.

  At inclusion (T0) and 12 months for control. At T0 then at 6 months for patients

• Assess the evolution of cortical atrophy,

  At inclusion (T0) and 12 months for control. At T0 then at 6 months for patients

• Correlate the neuroimaging parameters with motor function measure (Gross Motor Function Measure) and cognitive tests (BSID, WPPSI).

  At inclusion (T0) and 12 months for control. At T0 then at 6 months for patients

Study Arms (2)

Patients

OTHER

Patients with a metachromatic leukodystrophy

Other: High-field MRI (3 Teslas)

Control

OTHER

Epileptic population

Other: High-field MRI (3 Teslas)

Interventions

High-field MRI (3 Teslas) OTHER

* anatomical location * conventional anatomical sequence T1, T2, FLAIR * diffusion tensor sequence (21 directions) * high angular resolution diffusion (HARDI) sequence * field map * reflexology T1, T2 * spectroscopic imaging sequence

Patients

Eligibility Criteria

• Age: 1 Year - 6 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• Children with proven metachromatic leukodystrophy (MLD) with decreased activity of arylsulfatase A enzyme in leukocytes and abnormal excretion of urinary sulfatides
• Age ≥ 1 year and ≤ 6 years
• Recently diagnosed (within \< 18 months)
• Children with partial cryptogenic epilepsy or with a suspected brain lesion on conventional MRI, who should have high-field MRI to detect structural abnormalities that could benefit from surgical resection
• Age ≥ 1 year and ≤ 6 years

You may not qualify if:

• Evolutive heart, pulmonary, renal or gastrointestinal disease
• Contra-indication to sedation
• Contra-indication to MRI (implanted magnetic material)

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead
• European Leukodystrophy Association: collaborator
• URC-CIC Paris Descartes Necker Cochin: collaborator

Study Sites (3)

Unité de recherche biomédicale, Neurospin, I2BM / DSV / SAC/ CEA,

Gif-sur-Yvette, France

Location

Service de Neurologie Pédiatrique, Hôpital Bicêtre

Paris, 94275, France

Location

Bâtiment Lavoisier - Unité INSERM U 663,Hôpital Necker Enfants Malades

Paris, France

Location

MeSH Terms

Conditions

Leukodystrophy, Metachromatic; Demyelinating Diseases

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; 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

Study Officials

• Caroline Sevin, MD, PhD

  Assistance Publique - Hôpitaux de Paris

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: OTHER
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 9, 2011
• First Posted: March 29, 2011
• Study Start: November 1, 2010
• Primary Completion: March 1, 2016
• Study Completion: July 1, 2016
• Last Updated: November 20, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

FR (3)