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

This study has been completed.
Information provided by:
Boston Children’s Hospital Identifier:
First received: January 4, 2006
Last updated: July 13, 2011
Last verified: July 2011
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.

Condition Intervention Phase
Smith-Lemli-Opitz Syndrome Drug: crystalline cholesterol oil-based suspension Phase 1 Phase 2

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome

Resource links provided by NLM:

Further study details as provided by Boston Children’s Hospital:

Primary Outcome Measures:
  • Improvement in sterol levels monitored q.3-6 months [ Time Frame: q. 3-6 months over 20+ years ]

Secondary Outcome Measures:
  • Improved general health, growth, and behavior [ Time Frame: q. 3-6 months over 20 years ]
  • Improved neuropsychological development [ Time Frame: q. 3-6 months over 20+ years ]

Enrollment: 23
Study Start Date: January 1998
Study Completion Date: July 2011
Primary Completion Date: June 2011 (Final data collection date for primary outcome measure)
Intervention Details:
    Drug: crystalline cholesterol oil-based suspension
    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.
Detailed Description:
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.

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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
  Contacts and Locations
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Please refer to this study by its identifier: NCT00272844

United States, Massachusetts
Children's Hospital Boston
Boston, Massachusetts, United States, 02115
Sponsors and Collaborators
Boston Children’s Hospital
Principal Investigator: Mira Irons, M.D. Boston Children’s Hospital
  More Information

Responsible Party: Mira Irons M.D., Children's Hospital Boston Identifier: NCT00272844     History of Changes
Other Study ID Numbers: 03-11-189R
Study First Received: January 4, 2006
Last Updated: July 13, 2011

Keywords provided by Boston Children’s Hospital:
Smith-Lemli-Opitz syndrome
mental retardation
congenital anomalies

Additional relevant MeSH terms:
Cleft Palate
Genetic Diseases, X-Linked
Smith-Lemli-Opitz Syndrome
Pathologic Processes
Jaw Abnormalities
Jaw Diseases
Musculoskeletal Diseases
Maxillofacial Abnormalities
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Stomatognathic Diseases
Mouth Abnormalities
Mouth Diseases
Stomatognathic System Abnormalities
Congenital Abnormalities
Craniofacial Dysostosis
Bone Diseases, Developmental
Bone Diseases
Penile Diseases
Genital Diseases, Male
Urogenital Abnormalities
Genetic Diseases, Inborn
Abnormalities, Multiple
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors processed this record on September 21, 2017