SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation

Oregon Health & Science University (OHSU)

Status: Terminated

Conditions: Smith-Lemli-Opitz Syndrome

Treatments: Dietary Supplement: Lactose; Drug: Simvastatin

Study type: Interventional

Funder types: Other; NIH

Identifiers

NCT01434745

R01HL073980 (U.S. NIH Grant/Contract)

Details and patient eligibility

About

The purpose of this study is to determine if simvastatin improves development and behavior in patients with Smith Lemli-Opitz syndrome (SLOS) receiving dietary cholesterol supplementation.

Full description

Patients with SLOS receiving dietary cholesterol supplementation are given simvastatin, a drug that decreases the activity/expression of HMG-CoA reductase, an enzyme that controls the first step of the cholesterol synthesis pathway, reduces the accumulation of toxic 7-dehydrocholesterol (immediate metabolic precursor of cholesterol) and improve neurocognitive and behavioral outcomes.

Enrollment: 1 patient

Sex: All

Ages: 1 to 89 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Male or female over 1 years old
• Subject has confirmed diagnosis of Smith-Lemli-Opitz Syndrome
• Subject is currently receiving cholesterol supplementation

Exclusion criteria

• Subjects too ill to travel to the study site
• Subjects who are unable to safely undergo study procedures
• Pregnant women

Trial design

Primary purpose: Treatment

Allocation: Randomized

Interventional model: Crossover Assignment

Masking: Single Blind

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1 participants in 2 patient groups, including a placebo group

Placebo

Placebo Comparator group

Description:

placebo

Treatment:

Dietary Supplement: Lactose

Simvastatin

Experimental group

Description:

0.5 mg/kg body weight/day

Treatment:

Drug: Simvastatin