Trial record 1 of 458 for:    "cholesteryl ester storage disease" OR "Lipid Metabolism, Inborn Errors"
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Lysosomal Acid Lipase (LAL) Deficiency Registry

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2013 by Synageva BioPharma Corp.
Sponsor:
Information provided by (Responsible Party):
Synageva BioPharma Corp.
ClinicalTrials.gov Identifier:
NCT01633489
First received: June 29, 2012
Last updated: March 22, 2013
Last verified: March 2013
  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

Resource links provided by NLM:


Further study details as provided by Synageva BioPharma Corp.:

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)
Groups/Cohorts
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

  Eligibility

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.

Criteria

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 ClinicalTrials.gov identifier: NCT01633489

Contacts
Contact: Synageva help@laldeficiencyregistry.com

Locations
United States, Massachusetts
Recruiting
Lexington, Massachusetts, United States, 02421
Sponsors and Collaborators
Synageva BioPharma Corp.
Investigators
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
Lipidoses
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Lipid Metabolism Disorders
Metabolic Diseases
Infant, Newborn, Diseases

ClinicalTrials.gov processed this record on August 20, 2014