Trial record 1 of 26 for:    "Wolman disease" OR "Wolman Disease"
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Lysosomal Acid Lipase (LAL) Deficiency Registry

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2013 by Alexion Pharmaceuticals
Information provided by (Responsible Party):
Alexion Pharmaceuticals Identifier:
First received: June 29, 2012
Last updated: April 2, 2015
Last verified: March 2013

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.

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

Resource links provided by NLM:

Further study details as provided by Alexion Pharmaceuticals:

Primary Outcome Measures:
  • 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)
LAL Deficiency patients
Patients are those with a diagnosis of LAL Deficiency (living and deceased), irrespective of treatment status or treatment choice.
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


Ages Eligible for Study:   Child, Adult, Senior
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01633489

Contact: Synageva Medical Affairs

United States, Virginia
O&O Alpan LLC Recruiting
Fairfax, Virginia, United States, 22030
Contact: Ozlem Goker-Alpan, MD    571-308-1900      
Academic Medical Center Recruiting
Amsterdam, Netherlands
Contact: G.K. Hovingh, MD         
Sponsors and Collaborators
Alexion Pharmaceuticals
Study Director: Dana Martin, PharmD Synageva BioPharma
  More Information

Additional Information:
Responsible Party: Alexion Pharmaceuticals Identifier: NCT01633489     History of Changes
Other Study ID Numbers: LAL-REG-12 
Study First Received: June 29, 2012
Last Updated: April 2, 2015
Health Authority: United States: Institutional Review Board

Additional relevant MeSH terms:
Metabolic Diseases
Wolman Disease
Cholesterol Ester Storage Disease
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Infant, Newborn, Diseases
Lipid Metabolism Disorders processed this record on August 25, 2016