Natural History Study of Children With Metachromatic Leukodystrophy

Sponsor

Shire (Industry)

Overall Status

Terminated

CT.gov ID

NCT01963650

Collaborator

(none)

Enrollment

Locations

5.2

Actual Duration (Months)

0.1

Patients Per Site

Patients Per Site Per Month

Study Details

Study Description

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	Intervention/Treatment	Phase
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.

Study Design

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 :

Nov 2, 2015

Actual Primary Completion Date :

Apr 8, 2016

Actual Study Completion Date :

Apr 8, 2016

Arms and Interventions

Arm	Intervention/Treatment
No treatment

Outcome Measures

Primary Outcome Measures

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 Outcome Measures

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]
Reporting of any study procedure-related nonserious AEs and/or any SAEs [Week 0 to Week 114]

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A to 12 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

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.

Exclusion Criteria:

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.

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Harbor UCLA Pediatrics	Torrance	California	United States	90502
2	Children's National Health System	Washington	District of Columbia	United States	20010
3	Ann & Robert H. Lurie Children's Hospital of Chicago	Chicago	Illinois	United States	60611
4	Children's Hospital Of Pittsburgh	Pittsburgh	Pennsylvania	United States	15224
5	Hospital Universitario Austral	Pilar		Argentina	B1629ODT
6	Universitair Ziekenhuis Antwerpen (UZA) (University Hospital Antwerpen)	Edegem		Belgium	2650
7	Hospital de Cllnicas de Porto Alegre (HCPA) / UFRGS	Porto Alegre		Brazil	90035-003
8	Montreal Children's Hospital	Westmount		Canada	H3Z 2Z3
9	Copenhagen University Hospital, Rigshospitalet	Copenhagen		Denmark	2100
10	Hôpital De Bicêtre	Le Kremlin Bicêtre		France	94275
11	Univesitatsklinikum Tubingen Klinik fur Kinder und Jugendmedizin	Tubingen		Germany	72076
12	Faculty Of Medicine, Osaka University Graduate School Of Medicine	Osaka		Japan	565-0871
13	The Jikei University School Of Medicine - Institute Of Dna Medicine	Tokyo		Japan	105-8461
14	Hacettepe Universitesi Tip Fakultesi Onkoloji Hastanesi	Ankara		Turkey	6100