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

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ClinicalTrials.gov Identifier: NCT00272844
Recruitment Status : Completed
First Posted : January 9, 2006
Results First Posted : October 20, 2017
Last Update Posted : October 20, 2017
Sponsor:
Information provided by (Responsible Party):

Study Description
Brief Summary:
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 or disease Intervention/treatment Phase
Smith-Lemli-Opitz Syndrome Drug: crystalline cholesterol oil-based suspension Phase 1 Phase 2

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.

Study Design

Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 23 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome
Study Start Date : January 1998
Primary Completion Date : June 2011
Study Completion Date : July 2011


Arms and Interventions

Arm Intervention/treatment
Experimental: Cholesterol supplementation 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.


Outcome Measures

Primary Outcome Measures :
  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 Outcome Measures :
  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


Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00272844


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

Publications:
Responsible Party: Mira Irons, Associate Chief, Division of Genetics, Boston Children's Hospital
ClinicalTrials.gov Identifier: NCT00272844     History of Changes
Other Study ID Numbers: 03-11-189R
First Posted: January 9, 2006    Key Record Dates
Results First Posted: October 20, 2017
Last Update Posted: October 20, 2017
Last Verified: September 2017

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

Additional relevant MeSH terms:
Smith-Lemli-Opitz Syndrome
Syndrome
Cleft Palate
Hypertelorism
Hypospadias
Genetic Diseases, X-Linked
Disease
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
Dysostoses
Bone Diseases, Developmental
Bone Diseases
Penile Diseases
Genital Diseases, Male
Urogenital Abnormalities
Genetic Diseases, Inborn
Abnormalities, Multiple
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors