NCT00272844

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
23

participants targeted

Target at P25-P50 for phase_1

Timeline
Completed

Started Jan 1998

Longer than P75 for phase_1

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 1, 1998

Completed
8 years until next milestone

First Submitted

Initial submission to the registry

January 4, 2006

Completed
5 days until next milestone

First Posted

Study publicly available on registry

January 9, 2006

Completed
5.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 1, 2011

Completed
1 month until next milestone

Study Completion

Last participant's last visit for all outcomes

July 1, 2011

Completed
6.3 years until next milestone

Results Posted

Study results publicly available

October 20, 2017

Completed
Last Updated

October 20, 2017

Status Verified

September 1, 2017

Enrollment Period

13.4 years

First QC Date

January 4, 2006

Results QC Date

July 29, 2013

Last Update Submit

September 21, 2017

Conditions

Smith-Lemli-Opitz Syndrome

Keywords

cholesterolSmith-Lemli-Opitz syndromemental retardationsterolscongenital anomalies

Outcome Measures

Primary Outcomes (1)

  • Number of Responders

    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.

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

Secondary Outcomes (2)

  • Number of Growth Responders

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

  • Number of Participants With Improved Neuropsychological Development

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

Study Arms (1)

Cholesterol supplementation

EXPERIMENTAL
Drug: crystalline cholesterol oil-based suspension

Interventions

crystalline cholesterol oil-based suspensionDRUG

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.

Cholesterol supplementation

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

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

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Children's Hospital Boston

Boston, Massachusetts, 02115, United States

Location

Related Publications (5)

  • 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.

    PMID: 8209913RESULT

  • 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.

    PMID: 9024564RESULT

  • 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.

    PMID: 9024565RESULT

  • 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.

    PMID: 14605787RESULT

  • 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.

    PMID: 14662594RESULT

MeSH Terms

Conditions

Smith-Lemli-Opitz SyndromeIntellectual DisabilityCongenital Abnormalities

Condition Hierarchy (Ancestors)

Abnormalities, MultipleCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesLipid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornSteroid Metabolism, Inborn ErrorsDyslipidemiasLipid Metabolism DisordersMetabolic DiseasesNutritional and Metabolic DiseasesNeurobehavioral ManifestationsNeurologic ManifestationsNervous System DiseasesSigns and SymptomsPathological Conditions, Signs and SymptomsNeurodevelopmental DisordersMental Disorders

Results Point of Contact

Title
Dr. Mira Irons
Organization
Boston Children's Hospital
mira.irons@childrens.harvard.edu
617-355-2449

Study Officials

  • Mira Irons, M.D.

    Boston Children's Hospital

    PRINCIPAL INVESTIGATOR

Publication Agreements

PI is Sponsor Employee
Yes

Study Design

Study Type
interventional
Phase
phase 1
Allocation
NA
Masking
NONE
Purpose
TREATMENT
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Associate Chief, Division of Genetics

Study Record Dates

First Submitted

January 4, 2006

First Posted

January 9, 2006

Study Start

January 1, 1998

Primary Completion

June 1, 2011

Study Completion

July 1, 2011

Last Updated

October 20, 2017

Results First Posted

October 20, 2017

Record last verified: 2017-09

Locations

US(1)