WithdrawnNot Applicable

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

Stopped: Study halted prior to enrollment of first participant

0Started 2010-04-01

Plain-language summary

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

Age range21 Months

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

✓. The subject has a documented diagnosis of GLD as evidenced by GALC enzyme activity or a GALC genotype that is predictive of GLD.
✓. 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 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 measure the change from baseline in growth parameters (eg, weight gain, linear growth, head circumference).

Timeframe: 1 year

To determine the onset date of inadequate oral nutrition, hydration, and/or ventilation as a biomarker for survival

Timeframe: 1 year

NCT IDNCT01093105

SponsorShire

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2012-05-01

Who can participate

Age range21 Months

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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