The aim of this study is to develop a better understanding of the clinical phenotype of LAL Deficiency/CESD phenotype to support the design and interpretation of planned clinical studies with SBC-102 and to inform and enhance the evaluation and care…
ID
Source
Brief title
Condition
- Metabolic and nutritional disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
This is an observational study, no endpoints as such are defined.
Secondary outcome
N A
Background summary
Lysosomal Acid Lipase (LAL) Deficiency is a very rare lysosomal storage disease
(LSD) characterized by a failure to break down cholesteryl esters and
triglycerides in lysosomes due to a deficiency of the enzyme. LAL Deficiency is
a multi-system disease that most commonly manifests with gastrointestinal,
liver, and cardiovascular complications and is associated with significant
morbidity and mortality.
At present there are no approved therapies to treat patients with LAL
Deficiency.
Synageva BioPharma Corp. is developing SBC-102, an enzyme replacement therapy,
for the treatment of LAL Deficiency.
Study objective
The aim of this study is to develop a better understanding of the clinical
phenotype of LAL Deficiency/CESD phenotype to support the design and
interpretation of planned clinical studies with SBC-102 and to inform and
enhance the evaluation and care of patients with this disease.
Study design
The substudy is a non-interventional study.
In the substudy, 2 MRI scans will be taken, as well as 3 blood samples taken at
different time points.
Study burden and risks
As no treatment will be given, there is no risk involved in participating in
this study.
In the substudy the patient will undergo 2 MRI scans, as well as 3 blood draws
(at different time points).
All data that are collected during this study may also contribute to a better
understanding of the patient's disease and may improve treatment.
Spring Street, Suite 520 128
Lexington (Massachusetts) MA 02421
US
Spring Street, Suite 520 128
Lexington (Massachusetts) MA 02421
US
Listed location countries
Age
Inclusion criteria
- 8 years or older (only adult patients will be included in NL)
- No medical condition that would prevent from undergoing MRI or MRS
- Ability to understand the full nature and purpose of the study
- Confirmation of LAL deficiency
Exclusion criteria
- Contraindications for MRI scanning
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL40229.018.12 |