An Observational Study of Pediatric Subjects With Globoid Cell Leukodystrophy (GLD)

Withdrawn

• Conditions: Leukodystrophy, Globoid Cell

• Registration Number: NCT01093105
• Lead Sponsor: Shire

Brief Summary

The objective of this study is to evaluate the natural history of disease progression in infants with globoid cell leukodystrophy (GLD).

Detailed Description

This study is being conducted to gather prospective data on disease progression in infants diagnosed with GLD. This study will be performed using protocol-defined, standardized assessments including clinical, developmental, and neurologic measures. All study visits will be conducted in the subject's home. No travel to the study site is necessary.

Study Timeline

• Study First Submitted: 2010-03-24
• Study First Submitted QC: 2010-03-24
• Study First Posted: 2010-03-25
• Study Start: 2010-04-01
• Primary Completion: 2012-05-01
• Study Completion: 2012-05-01
• Status Verified: 2021-05
• Last Update Submitted: 2021-05-30
• Last Update Posted: 2021-06-03

Recruitment & Eligibility

• Status: WITHDRAWN
• Sex: All
• Target Recruitment: Not specified

Inclusion Criteria

Subjects must meet all of the following criteria to be considered eligible for this study:

1. The subject has a documented diagnosis of GLD as evidenced by GALC enzyme activity or a GALC genotype that is predictive of GLD.

2. The subject must have clinical signs and symptoms consistent with the diagnosis of infantile GLD including at least 2 of the following:

   1. Chronic difficulty with feeding or unexplained irritability or "fisting" or other signs of abnormal increased tone
   2. CT or MRI imaging, if performed during diagnostic evaluation prior to enrollment, consistent with GLD
   3. Failure to meet at least 2 age-specific developmental milestones consistent with GLD
   4. Loss of deep tendon reflexes or abnormal visual fixation or optic atrophy

3. 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.

4. The subject was born at a gestational age of 35-41 weeks.

5. The subject had a birth weight of ≥2 kg.

6. 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.

7. 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.

8. The subject must be able, in the opinion of the Investigator, to accommodate the protocol requirements, including feasibility of study visits.

9. 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:

1. 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.
2. The subject has received treatment with any investigational drug or a device within the 30 days prior to study enrollment through study completion.
3. The subject has received a cord blood or bone marrow transplant or is planning to receive one during the study.
4. 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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
To measure the change from baseline in growth parameters (eg, weight gain, linear growth, head circumference).	1 year
To determine the onset date of inadequate oral nutrition, hydration, and/or ventilation as a biomarker for survival	1 year

Secondary Outcome Measures

Name	Time	Method
To assess the change from baseline in clinical parameters of GLD disease progression from a standardized infant neurological examination and infant distress scales.	1 year
To assess the AE experience in this patient population	1 year
To assess the change from baseline in clinical parameters described in Hagberg's clinical staging.	1 year
To measure the time to absolute survival	1 year