Lysosomal Acid Lipase DeficiencyNCT01358370
A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype
An observational study of Lysosomal Acid Lipase Deficiency and Wolman Disease, run by Alexion Pharmaceuticals, Inc. at 14 sites in 5 countries.
Trial summary
This is a Natural History study to characterize key aspects of the clinical course of lysosomal acid lipase (LAL) deficiency/Wolman phenotype in patients. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Lysosomal Acid Lipase Deficiency, Wolman Disease
- How many people
- 40 participants
- Where
- 14 sitesin 5 countries
- Study dates
- Nov 2010to Mar 2013
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Deceased patients diagnosed with LAL deficiency/Wolman phenotype in 1985 or later.
Who may be able to join
- Deceased patients diagnosed with LAL deficiency/Wolman phenotype in 1985 or later provided they have required data points in their medical records.
Who cannot join
- Patients will be excluded from the study if the required data points for inclusion are not available.
- Living LAL deficiency/Wolman phenotype patients will be excluded
Trial locations and contacts
14 sites in 5 countries.
14 sites in 5 countries
United States7 sites
Cedars-Siani Medical Center
Los Angeles, California, 90095-1752
University of Minnesota
Minneapolis, Minnesota, 55455
Columbia University
New York, New York, 10027
Ney York Presbyterian Hosptial
New York, New York, 10032
North Shore Long Island Jewish Medical Center
New York, New York, 11040
Stanford University
Palo Alto, California, 94305
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15224
United Kingdom3 sites
Birmingham Children's Hospital NHS Foundation Trust
Birmingham, B4 6NH
Kings College London
London, WC2R 2LS
Manchester Children's Hospital
Manchester, M13 9Wl
Italy2 sites
Instituto Giannina Gaslini- Ospedale Pediatrico IRCCS
Genova
University of Turin
Turin, 10124
About this study
This is a Natural History study to characterize key aspects of the clinical course of lysosomal acid lipase (LAL) deficiency/Wolman phenotype in patients.
Read the detailed description
The objective of this study is to characterize key aspects of the clinical course of LAL deficiency/Wolman phenotype in patients including, but not limited to, survival and growth parameters, to serve as a historical control to inform the evaluation and care of affected patients and to provide a reference for efficacy studies of enzyme replacement or other novel therapies.
- Conditions
- Lysosomal Acid Lipase Deficiency, Wolman Disease
- Keywords
- LAL Deficiency, LIPA, Wolman disease, Wolman Phenotype, Early Onset LAL Deficiency, Acid Lipase Deficiency
- Medical subject headings
- Wolman Disease
What is being measured
The primary outcome is the main question the study is designed to answer.
Time to Death
The time to death will be analyzed using Kaplan-Meier curves. Estimates (with exact 95% confidence interval [CI]) of the median and the lower and upper quartiles of time to death will be derived.
Measured: Up to two years.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 May 2011 (estimated)
- Study startNov 2010
- Primary completionJan 2013
- Study completionMar 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Lysosomal Acid Lipase DeficiencyStudies of the same condition, open and under way.
- More trials run by Alexion Pharmaceuticals, Inc.The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 40 participants (actual)
Sponsor and investigators
- Lead sponsor
- Alexion Pharmaceuticals, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01358370
- Sponsor's protocol ID
- LAL-1-NH01
- Status last verified
- Jun 2016
- First submitted
- 13 Apr 2011
- Last updated
- 27 Jun 2016
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Jun 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype
- ClinicalTrials.gov ID
- NCT01358370
- Acronym / sponsor ID
- LAL-1-NH01
- Conditions
- Lysosomal Acid Lipase Deficiency, Wolman Disease
- Keywords
- LAL Deficiency, LIPA, Wolman disease, Wolman Phenotype, Early Onset LAL Deficiency, Acid Lipase Deficiency
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 40 participants (actual)
- Lead sponsor
- Alexion Pharmaceuticals, Inc.Industry (pharma, biotech, devices)
- Study start
- Nov 2010
- Primary completion
- Jan 2013 (actual)
- Study completion
- Mar 2013 (actual)
- First posted
- 23 May 2011 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This is a Natural History study to characterize key aspects of the clinical course of lysosomal acid lipase (LAL) deficiency/Wolman phenotype in patients.
Detailed description
The objective of this study is to characterize key aspects of the clinical course of LAL deficiency/Wolman phenotype in patients including, but not limited to, survival and growth parameters, to serve as a historical control to inform the evaluation and care of affected patients and to provide a reference for efficacy studies of enzyme replacement or other novel therapies.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Deceased patients diagnosed with LAL deficiency/Wolman phenotype in 1985 or later.
Key inclusion criteria (1 listed)
- Deceased patients diagnosed with LAL deficiency/Wolman phenotype in 1985 or later provided they have required data points in their medical records.
Key exclusion criteria (2 listed)
- Patients will be excluded from the study if the required data points for inclusion are not available.
- Living LAL deficiency/Wolman phenotype patients will be excluded
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Time to Death
Time frame: Up to two years.
The time to death will be analyzed using Kaplan-Meier curves. Estimates (with exact 95% confidence interval [CI]) of the median and the lower and upper quartiles of time to death will be derived.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Jun 2016.
- WebsiteLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
14 sites in 5 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Lysosomal Acid Lipase Deficiency and Wolman Disease, run by Alexion Pharmaceuticals, Inc. at 14 sites in 5 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 27 Jun 2016. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 14 sites in United States, United Kingdom, Italy, Canada, France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Time to Death (time frame: Up to two years.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Jun 2016.