Trial record 2 of 10 for:    Open Studies | "Leukodystrophy, Metachromatic"

Natural History Study of Children With Metachromatic Leukodystrophy

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2015 by Shire
ICON Clinical Research
Information provided by (Responsible Party):
Shire Identifier:
First received: October 11, 2013
Last updated: March 2, 2015
Last verified: March 2015

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
Lysosomal Storage Diseases, Nervous System
Demyelinating Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
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 ]

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.

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.


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.


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 40 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 identifier: NCT01963650

Contact: Anna Wijatyk, MD 1-781-482-9622

United States, California
Harbor UCLA Pediatrics Recruiting
Torrance, California, United States, 90502
Contact: Nathalia Cressey   
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   
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   
Principal Investigator: Barbara Burton, MD         
United States, Pennsylvania
Children's Hospital Of Pittsburgh Recruiting
Pittsburgh, Pennsylvania, United States, 15224
Contact: Maria Escolar, MD    412-692-9955   
Principal Investigator: Maria Escolar, MD         
Hospital Universitario Austral Not yet recruiting
Pilar, Argentina, B1629ODT
Contact: Hernan Amartino, MD    54 911 49475492   
Principal Investigator: Hernan Amartino, MD         
Universitair Ziekenhuis Antwerpen (UZA) (University Hospital Antwerpen) Not yet recruiting
Edegem, Belgium, 2650
Contact: François Eyskens, Prof, Dr    32 38213000   
Principal Investigator: François Eyskens, Prof, Dr         
Hospital de Cllnicas de Porto Alegre (HCPA) / UFRGS Not yet recruiting
Porto Alegre, Brazil, 90035-003
Contact: Roberto Giugliani, MD    555199945003   
Principal Investigator: Roberto Giugliani, MD         
Montreal Children's Hospital Not yet recruiting
Westmount, Canada, H3Z 2Z3
Contact: Luan Tran, MD   
Principal Investigator: Genevieve Bernard, MD         
Fundacion Cardiofantil Not yet recruiting
Bogota, Colombia
Contact: Adriana Fajardo, MD   
Principal Investigator: Adriana Fajardo, MD         
Copenhagen University Hospital, Rigshospitalet Not yet recruiting
Copenhagen, Denmark, 2100
Contact: Christine Dali, MD    4525229155   
Principal Investigator: Christine Dali, MD         
Hôpital De Bicêtre Not yet recruiting
Le Kremlin Bicêtre, France, 94275
Contact: Caroline Sevin, MD    33661778475   
Principal Investigator: Caroline Sevin, MD         
Univesitatsklinikum Tubingen Klinik fur Kinder und Jugendmedizin Not yet recruiting
Tubingen, Germany, 72076
Contact: Joachim Riethmuller, MD    4915209061667   
Principal Investigator: Joachim Riethmuller, MD         
Tel Aviv Sourasky Medical Center Not yet recruiting
Tel Aviv, Israel, 64239
Contact: Aviva Fattal-Valevski, Prof    972 524262069   
Principal Investigator: Aviva Fattal-Valevski, Prof         
Faculty Of Medicine, Osaka University Graduate School Of Medicine Not yet recruiting
Osaka, Japan, 565-0871
Contact: Norio Sakai, MD, PhD    81 668793935   
Principal Investigator: Norio Sakai, MD, PhD         
The Jikei University School Of Medicine - Institute Of Dna Medicine Not yet recruiting
Tokyo, Japan, 105-8461
Contact: Toya Ohashi, MD    81 334331111   
Principal Investigator: Toya Ohashi, MD         
Hacettepe Universitesi Tip Fakultesi Onkoloji Hastanesi Not yet recruiting
Ankara, Turkey, 6100
Contact: Meral Topcu, MD   
Principal Investigator: Meral Topcu, MD         
Sponsors and Collaborators
ICON Clinical Research
Study Director: Anna Wijatyk, MD Shire
  More Information

No publications provided

Responsible Party: Shire Identifier: NCT01963650     History of Changes
Other Study ID Numbers: HGT-MLD-092
Study First Received: October 11, 2013
Last Updated: March 2, 2015
Health Authority: United States: Institutional Review Board

Additional relevant MeSH terms:
Leukodystrophy, Metachromatic
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Central Nervous System Diseases
Demyelinating Diseases
Genetic Diseases, Inborn
Hereditary Central Nervous System Demyelinating Diseases
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Metabolic Diseases
Metabolism, Inborn Errors
Nervous System Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Sulfatidosis processed this record on March 31, 2015