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

NCT ID: NCT00272844

Last Updated: 2017-10-20

Study Results

Results available

Outcome measurements, participant flow, baseline characteristics, and adverse events have been published for this study.

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Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

PHASE1/PHASE2

Total Enrollment

23 participants

Study Classification

INTERVENTIONAL

Study Start Date

1998-01-31

Study Completion Date

2011-07-31

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Smith-Lemli-Opitz Syndrome

Keywords

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cholesterol Smith-Lemli-Opitz syndrome mental retardation sterols congenital anomalies

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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Cholesterol supplementation

Group Type EXPERIMENTAL

crystalline cholesterol oil-based suspension

Intervention Type 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.

Interventions

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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.

Intervention Type DRUG

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Boston Children's Hospital

OTHER

Sponsor Role lead

Responsible Party

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Mira Irons

Associate Chief, Division of Genetics

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Mira Irons, M.D.

Role: PRINCIPAL_INVESTIGATOR

Boston Children's Hospital

Locations

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Children's Hospital Boston

Boston, Massachusetts, United States

Site Status

Countries

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United States

References

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Irons M, Elias ER, Tint GS, Salen G, Frieden R, Buie TM, Ampola M. Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient. Am J Med Genet. 1994 May 1;50(4):347-52. doi: 10.1002/ajmg.1320500409.

Reference Type RESULT
PMID: 8209913 (View on PubMed)

Elias ER, Irons MB, Hurley AD, Tint GS, Salen G. Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS). Am J Med Genet. 1997 Jan 31;68(3):305-10. doi: 10.1002/(sici)1096-8628(19970131)68:33.0.co;2-x.

Reference Type RESULT
PMID: 9024564 (View on PubMed)

Irons M, Elias ER, Abuelo D, Bull MJ, Greene CL, Johnson VP, Keppen L, Schanen C, Tint GS, Salen G. Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. Am J Med Genet. 1997 Jan 31;68(3):311-4.

Reference Type RESULT
PMID: 9024565 (View on PubMed)

Caruso PA, Poussaint TY, Tzika AA, Zurakowski D, Astrakas LG, Elias ER, Bay C, Irons MB. MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. Neuroradiology. 2004 Jan;46(1):3-14. doi: 10.1007/s00234-003-1110-1. Epub 2003 Nov 5.

Reference Type RESULT
PMID: 14605787 (View on PubMed)

Elias ER, Hansen RM, Irons M, Quinn NB, Fulton AB. Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome. Arch Ophthalmol. 2003 Dec;121(12):1738-43. doi: 10.1001/archopht.121.12.1738.

Reference Type RESULT
PMID: 14662594 (View on PubMed)

Other Identifiers

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03-11-189R

Identifier Type: -

Identifier Source: org_study_id