Lysosomal Acid Lipase (LAL) Deficiency Registry
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Purpose
This is an observational, multi-center, international disease registry designed to collect longitudinal data and create a knowledge base that will be utilized to improve the care and treatment of patients with LAL Deficiency and carriers of the disorder. Participation in the Registry by both physicians and patients is voluntary. Prospective and retrospective data will be collected; data will be de-identified. Demographic, socioeconomic, clinical, and treatment data, or those deemed relevant to the management of eligible patients will be submitted to the Registry based on routine clinical practice, as determined by the patient's physician.
The objective of the LAL Deficiency Registry is to use uniform methodology to collect longitudinal data over an extended period to provide information to:
- Further understand the disease, its progression and any associated complications.
- Evaluate the long-term effectiveness of therapeutic and supportive interventions.
- Improve care through evidence-based patient management.
- Understand the relationship between LAL Deficiency and access to care.
| Condition |
|---|
|
Lysosomal Acid Lipase Deficiency Cholesterol Ester Storage Disease Wolman Disease Acid Cholesteryl Ester Hydrolase Deficiency, Type 2 Acid Lipase Deficiency LIPA Deficiency |
| Study Type: | Observational [Patient Registry] |
| Study Design: | Observational Model: Cohort Time Perspective: Prospective |
| Target Follow-Up Duration: | 10 Years |
| Official Title: | An Observational Disease and Clinical Outcomes Registry of Patients With Lysosomal Acid Lipase (LAL) Deficiency (Wolman Disease and Cholesteryl Ester Storage Disease) and Carriers of the Disorder |
- Understanding of the variability, progression, identification and natural history of LAL Deficiency. [ Time Frame: Ongoing ] [ Designated as safety issue: No ]
| Estimated Enrollment: | 1000 |
| Study Start Date: | December 2012 |
| Estimated Primary Completion Date: | December 2027 (Final data collection date for primary outcome measure) |
| Groups/Cohorts |
|---|
|
LAL Deficiency patients
Patients are those with a diagnosis of LAL Deficiency (living and deceased), irrespective of treatment status or treatment choice.
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Carriers of LAL Deficiency
Carriers are considered those with evidence of at least one mutation in the LIPA gene, or those that have an affected parent or child diagnosed with LAL Deficiency.
|
Show Detailed Description Eligibility| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
All patients with a diagnosis of LAL Deficiency or carriers of the disorder.
Patients must have a diagnosis of LAL Deficiency or be carriers of the disorder. Carriers must have evidence of at least one mutation in the LIPA gene, or have an affected parent or child diagnosed with LAL Deficiency. An Informed Consent and Authorization must be obtained prior to patient enrollment where required under applicable laws and regulations, or a waiver must be obtained by the Institutional Review Board/Independent Ethics Committee.
Contacts and Locations| Contact: Synageva | help@laldeficiencyregistry.com |
| United States, Massachusetts | |
| Recruiting | |
| Lexington, Massachusetts, United States, 02421 | |
| Study Director: | Mark Goldberg, MD | Synageva BioPharma Corp. |
More Information
Additional Information:
No publications provided
| Responsible Party: | Synageva BioPharma Corp. |
| ClinicalTrials.gov Identifier: | NCT01633489 History of Changes |
| Other Study ID Numbers: | LAL-REG-12 |
| Study First Received: | June 29, 2012 |
| Last Updated: | March 22, 2013 |
| Health Authority: | United States: Institutional Review Board |
Additional relevant MeSH terms:
|
Cholesterol Ester Storage Disease Wolman Disease Metabolic Diseases Lipidoses Lipid Metabolism, Inborn Errors |
Metabolism, Inborn Errors Genetic Diseases, Inborn Lysosomal Storage Diseases Lipid Metabolism Disorders Infant, Newborn, Diseases |
ClinicalTrials.gov processed this record on May 16, 2013