A Historical Chart Review and Longitudinal Follow-Up of Identified Patients With Wolman Disease or Cholesteryl Ester Storage Disease, Lysosomal Acid Lipase Deficiency
Sponsor study identifier
Secondary identifiers
NIH
observational
4
1 country
1
Study Start
November 2010
Date type not reportedThis date has not been verified as actual or estimated.
Primary Completion
May 2014
Actual (reported)Study Completion
May 2014
Actual (reported)The purpose of this study are: to characterize and understand the natural history of disease progression in WD and CESD, and to provide historical controls for WD and CESD for developing clinical treatment trials. The hypothesis is that the variability and clinical progression in WD and CESD is large and represents a continuum of severities from a lethal infantile to near normal adults with only "fatty livers".
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
May 2014
Actual (reported)Click on a node to explore related trials.
Some registry-reported names shown below are not yet linked in this graph.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
November 2010
Date type not reportedThis date has not been verified as actual or estimated.
March 13, 2013
Actual (reported)June 21, 2013
Actual (reported)May 2014
Actual (reported)May 2014
Actual (reported)Change in Organ Measurements using Ultrasound Imaging
Measurement of the effect over time of LAL deficiency on the liver, spleen, intestines, lungs and adrenals will be performed using ultrasound imaging. Measurement using ultrasound imaging will only be completed if clinically indicated during clinical-care patient visits.
Baseline, Year 1, Year 2, Year 3, Year 4
Change in Organ Measurements using X-Ray Imaging
Baseline, Year 1, Year 2, Year 3, Year 4
Change in Organ Measurements using Computerized Tomography
Baseline, Year 1, Year 2, Year 3, Year 4
Patients with Wolman disease (WD), Cholesteryl Ester Storage Disease (CESD), or Lysosomal acid lipase (LAL) deficiency.
Registry-reported names are shown in full. Names without a link have not yet been matched to a Syfrah profile.
Patients will be recruited initially from the PIs patient population. Other physicians may refer their patients to this study for inclusion.
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229, United States
No biospecimens will be collected specifically for this study. However, participants are encouraged to send left over biopsy material to the study site for analysis at a later date.
Gregory A Grabowski, MD
Children's Hospital Medical Center, Cincinnati
4 participants (actual enrollment reported by the registry).
First Submitted
March 13, 2013
First Posted
June 21, 2013
Study Start
November 2010
Date type not reportedThis date has not been verified as actual or estimated.
Safety, Tolerability and Pharmacokinetics of SBC-102 (Sebelipase Alfa) in Adult Participants With Lysosomal Acid Lipase Deficiency
Change in Organ Measurements using Magnetic Resonance Imaging
Baseline, Year 1, Year 2, Year 3, Year 4
Change in Liver Function using Standardized Laboratory Liver Function Assessment
Baseline, Year 1, Year 2, Year 3, Year 4
Change in Pulmonary Function using Standardized Pulmonary Function Assessment
Baseline, Year 1, Year 2, Year 3, Year 4
Contact the study team to confirm eligibility.
Primary Completion
May 2014
Actual (reported)Study Completion
May 2014
Actual (reported)Last Updated
July 28, 2015
Record last verified: 2015-07
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Source: ClinicalTrials.gov.
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