An Observational Study of Pediatric Subjects With Globoid Cell Leukodystrophy (GLD)
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ClinicalTrials.gov Identifier: NCT01093105 |
Recruitment Status
:
Withdrawn
(Study halted prior to enrollment of first participant)
First Posted
: March 25, 2010
Last Update Posted
: February 21, 2014
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Condition or disease |
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Leukodystrophy, Globoid Cell |
Study Type : | Observational |
Actual Enrollment : | 0 participants |
Observational Model: | Cohort |
Time Perspective: | Prospective |
Official Title: | A Multicenter, Prospective, Longitudinal, Observational Study of Pediatric Subjects With Globoid Cell Leukodystrophy (Krabbe Disease) |

- To measure the change from baseline in growth parameters (eg, weight gain, linear growth, head circumference). [ Time Frame: 1 year ]
- To determine the onset date of inadequate oral nutrition, hydration, and/or ventilation as a biomarker for survival [ Time Frame: 1 year ]
- To assess the change from baseline in clinical parameters of GLD disease progression from a standardized infant neurological examination and infant distress scales. [ Time Frame: 1 year ]
- To assess the change from baseline in clinical parameters described in Hagberg's clinical staging. [ Time Frame: 1 year ]
- To measure the time to absolute survival [ Time Frame: 1 year ]
- To assess the AE experience in this patient population [ Time Frame: 1 year ]

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Ages Eligible for Study: | up to 21 Months (Child) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
Subjects must meet all of the following criteria to be considered eligible for this study:
- The subject has a documented diagnosis of GLD as evidenced by GALC enzyme activity or a GALC genotype that is predictive of GLD.
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The subject must have clinical signs and symptoms consistent with the diagnosis of infantile GLD including at least 2 of the following:
- Chronic difficulty with feeding or unexplained irritability or "fisting" or other signs of abnormal increased tone
- CT or MRI imaging, if performed during diagnostic evaluation prior to enrollment, consistent with GLD
- Failure to meet at least 2 age-specific developmental milestones consistent with GLD
- Loss of deep tendon reflexes or abnormal visual fixation or optic atrophy
- The subject has documented onset of signs and symptoms consistent with GLD at <12 months of age and is <21 months of age at time of study entry.
- The subject was born at a gestational age of 35-41 weeks.
- The subject had a birth weight of ≥2 kg.
- At study entry, the subject must be able to maintain oral nutrition and hydration without the use of supportive measures, defined as use of a feeding tube.
- At study entry, the subject must be able to maintain ventilation without the use of invasive supportive measures, defined as use of a breathing tube.
- The subject must be able, in the opinion of the Investigator, to accommodate the protocol requirements, including feasibility of study visits.
- The subject's parent(s) or legal guardian must have voluntarily signed an Institutional Review Board/Independent Ethics Committee-approved informed consent form after all relevant aspects of the study have been explained and discussed with the subject's parent(s), or legal guardian.
Exclusion Criteria: Subjects who meet any of the following criteria are not eligible for this study:
- The subject has neurologic, hearing or vision impairment, difficulty swallowing or feeding, respiratory complications, behavioral disturbances, or other medical conditions that are not due to GLD and are likely to confound the scientific integrity or interpretation of study assessments, as determined by the Investigator.
- The subject has received treatment with any investigational drug or a device within the 30 days prior to study enrollment through study completion.
- The subject has received a cord blood or bone marrow transplant or is planning to receive one during the study.
- The subject's parent(s) or legal guardian is unable to understand the nature, scope, and possible consequences of the study, or does not agree to comply with the protocol defined schedule of assessments.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01093105
Study Director: | Lawrence Charnas, MD, PhD | Shire Human Genetic Therapies, Inc. |
Responsible Party: | Shire |
ClinicalTrials.gov Identifier: | NCT01093105 History of Changes |
Other Study ID Numbers: |
HGT-GLD-056 |
First Posted: | March 25, 2010 Key Record Dates |
Last Update Posted: | February 21, 2014 |
Last Verified: | February 2014 |
Keywords provided by Shire:
Leukodystrophy, Globoid Cell Classic Globoid Cell Leukodystrophy Early-Onset Globoid Cell Leukodystrophy Globoid Cell Leukodystrophy Infantile Globoid Cell Leukodystrophy Late-Onset Globoid Cell Leukodystrophy Leukodystrophy, Globoid Cell, Classic Leukodystrophy, Globoid Cell, Early-Onset Leukodystrophy, Globoid Cell, Infantile |
Leukodystrophy, Globoid Cell, Late-Onset Krabbe Leukodystrophy Krabbe's Leukodystrophy Globoid Cell Leukoencephalopathy Psychosine galactosylsphingosine (psychosine) beta-galactosidase Psychosine-UDP galactosyltransferase Krabbe Disease Krabbe's Disease |
Additional relevant MeSH terms:
Leukodystrophy, Globoid Cell Hereditary Central Nervous System Demyelinating Diseases Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases Sphingolipidoses Lysosomal Storage Diseases, Nervous System |
Leukoencephalopathies Demyelinating Diseases Metabolism, Inborn Errors Genetic Diseases, Inborn Lipidoses Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases Metabolic Diseases Lipid Metabolism Disorders |