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Completed

NCT Number: NCT00272844

Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome

The purpose of this study is to determine whether supplementation with an oil-based cholesterol suspension will correct the biochemical abnormalities in cholesterol and its precursors in individuals with the Smith-Lemli-Opitz syndrome.

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Key information

Conditions

Smith-Lemli-Opitz Syndrome Abnormalities, Multiple Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dyslipidemias Genetic Diseases, Inborn Intellectual Disability Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Mental Disorders Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Neurobehavioral Manifestations Neurodevelopmental Disorders Neurologic Manifestations Nutritional and Metabolic Diseases Pathological Conditions, Signs and Symptoms Signs and Symptoms Steroid Metabolism, Inborn Errors

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 1 / Phase 2

Primary location

Children's Hospital Boston

Boston, Massachusetts, 02115, United States

About this study

This study involves treating individuals with the Smith-Lemli-Opitz syndrome, a rare inborn error of cholesterol metabolism, with supplemental cholesterol to determine it effects on biochemical sterol metabolites, growth, neuropsychological development, ophthalmologic and auditory function, ERG (electroretinogram) parameters, and CNS metabolites as determined by brain MRS-imaging. Safety of the supplemental cholesterol suspension is monitored by tests of hematologic, renal, and liver function at periodic intervals. There is also a substudy that is investigating potential genotype-phenotype correlations, as well as another that studies biochemical parameters of light sensitivity in cultured skin fibroblasts from affected patients.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Biochemical confirmation of sterol defect associated with Smith-Lemli-Opitz syndrome

Exclusion criteria

  • Inability to tolerate crystalline cholesterol
  • Inability to travel to Boston 3-4 times/year based on age

Treatment and study plan

crystalline cholesterol oil-based suspension

Drug

200 mg/mL suspension of crystalline cholesterol in oil. Dosage (generally 75-300 mg/kg/day in divided doses) is based on initial cholesterol levels and regulated to increase, yet maintain, cholesterol levels no higher than normal ranges.

Primary outcomes

  1. Number of Responders

    Time frame: Every 3-6 months for an approximate median of 5 years

    Responders was defined as an increase in total serum cholesterol and a decrease in 7-DHC (7-Dehydrocholesterol), and 8-DHC (8-Dehydrocholesterol) were measured on all participants.

Secondary outcomes

  1. Number of Growth Responders

    Time frame: Every 3-6 months for an approximate median of 5 years

    Growth response was defined as an increase in general health, growth, and behavior.

  2. Number of Participants With Improved Neuropsychological Development

    Time frame: Every 3-6 months for an approximate median of 5 years

    Improved neuropsychological development is defined as progressively achieving developmental milestones

Sponsors and collaborators

Lead sponsor

Boston Children's Hospital

Other

Registry information

Important dates

Study start
1998
Primary completion
2011
Study completion
2011
First posted
Jan 9, 2006
Registry last updated
Oct 20, 2017

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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