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

This study has been completed.
Sponsor:
Information provided by:
Children's Hospital Boston
ClinicalTrials.gov Identifier:
NCT00272844
First received: January 4, 2006
Last updated: July 13, 2011
Last verified: July 2011
  Purpose

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
Endpoint Classification: Safety/Efficacy Study
Intervention Model: Single Group Assignment
Masking: 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 Children's Hospital Boston:

Primary Outcome Measures:
  • Improvement in sterol levels monitored q.3-6 months [ Time Frame: q. 3-6 months over 20+ years ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Improved general health, growth, and behavior [ Time Frame: q. 3-6 months over 20 years ] [ Designated as safety issue: Yes ]
  • Improved neuropsychological development [ Time Frame: q. 3-6 months over 20+ years ] [ Designated as safety issue: No ]

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.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00272844

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

Publications:
Responsible Party: Mira Irons M.D., Children's Hospital Boston
ClinicalTrials.gov Identifier: NCT00272844     History of Changes
Other Study ID Numbers: 03-11-189R
Study First Received: January 4, 2006
Last Updated: July 13, 2011
Health Authority: United States: Food and Drug Administration

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

Additional relevant MeSH terms:
Cleft Palate
Genetic Diseases, X-Linked
Hypertelorism
Hypospadias
Smith-Lemli-Opitz Syndrome
Syndrome
Abnormalities, Multiple
Bone Diseases
Bone Diseases, Developmental
Congenital Abnormalities
Craniofacial Abnormalities
Craniofacial Dysostosis
Disease
Dyslipidemias
Dysostoses
Genetic Diseases, Inborn
Genital Diseases, Male
Jaw Abnormalities
Jaw Diseases
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Maxillofacial Abnormalities
Metabolic Diseases
Metabolism, Inborn Errors
Mouth Abnormalities
Mouth Diseases
Musculoskeletal Abnormalities
Musculoskeletal Diseases
Pathologic Processes
Penile Diseases

ClinicalTrials.gov processed this record on November 25, 2014