NCT01527318

The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM)

• Status: Completed
• Phase: Phase 4
• Study type: Interventional
• Enrollment: 6 (actual)
• Sponsor: Maastricht University Medical Center · Academic / Other
• Sex: All
• Age: 18 Years – 70 Years
• Healthy volunteers: Not accepted

Summary

Neutral Lipid Storage Disease With Myopath (NLSDM) is a disease caused by a defect in the PNPLA2 gene encoding ATGL. Patients with NLSDM accumulate triglycerides and exhibit muscle weakness, cardiac failure and hepatosteatosis. Most of these patients die at young age due to cardiac failure. Not much is known about the underlying mechanisms, though recently it was discovered that PPAR activation in ATGL-/- mice was impaired leading to decreased mitochondrial function, lipid accumulation and cardiac failure resulting in death at young age. Activation of PPARs, by treatment with fibrates rescued the phenotype and reduced mortality rates in these mice. These findings may have a major impact for patients with NLSDM if these results can be translated to humans. Therefore, the investigators would like to evaluate the beneficial effects of fibrate treatment on muscle mitochondrial and cardiac function in patients with NLSDM. Patients will be treated with fibrates during a period of 28 weeks. Baseline measurements will be performed prior to the study and after treatment. Cardiac and muscular lipid accumulation, cardiac function, mitochondrial function and insulin sensitivity will be assessed during these baseline measurements.

Conditions

• Neutral Lipid Storage Disease

Interventions

Type	Name	Description
DRUG	Fibrate treatment	Patients will receive a dosage of 400mg Bezafibrate every day during 28 weeks

Timeline

• Start date: 2011-08-01
• Primary completion: 2012-12-01
• Completion: 2012-12-01
• First posted: 2012-02-07
• Last updated: 2013-05-14

Locations

1 site across 1 country: Netherlands