Smith-Lemli-Opitz Syndrome Clinical Trial
Official title:
Short-Term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome
This 10-week study will evaluate and compare behavior changes in children with
Smith-Lemli-Opitz syndrome (SLOS) who are taking cholesterol supplementation versus those
who are not on cholesterol supplementation. SLOS is a genetic disorder that affects the
development of children both before and after birth. An enzyme deficiency in these children
results in low levels of cholesterol, which can cause a variety of birth defects and
behavioral problems. Typical abnormal physical features of patients include a small head,
drooping eyelids, small upturned nose, small chin, cleft palate, heart defects, and extra
fingers or toes.
Children between 5 and 17 with mild SLOS who do not have a history of egg allergy or
intolerance may be eligible for this study. Candidates are screened with a questionnaire
about the patient's age, genotype (if known), sterol levels, symptoms, current treatment and
medical history.
Children participate in two 2-week study phases. Between the study phases the children will
take 150 mg/kg daily of a cholesterol preparation typically used to supplement cholesterol
in patients in SLOS studies at NIH. In the study phases, the participants are randomly
assigned to take either egg yolk or an egg yolk substitute, such as Egg Beaters, that does
not contain cholesterol. The study is done at the participant's home, and the cholesterol
supplementation and egg/egg substitute are sent to the home each day with instructions on
how to take them.
The caretakers can stop the study phases after four days if behavior problems occur.
The children's caretakers fill out a standard behavioral questionnaire, the Aberrant
Behavior Checklist. The questionnaire is designed to assess the effects of treatment in
mentally impaired persons.
Status | Completed |
Enrollment | 13 |
Est. completion date | February 2009 |
Est. primary completion date | February 2009 |
Accepts healthy volunteers | No |
Gender | Both |
Age group | 4 Years to 17 Years |
Eligibility |
Inclusion 1. This study will include pediatric patients, ages 4-17 years old with a biochemical diagnosis of Smith-Lemli-Opitz Syndrome (SLOS). 2. Only mild and classical patients will be enrolled. 3. This study will be open to include SLOS patients regardless of whether or not they are participating in another NIH protocol. Exclusion 1. Patients with a history of egg allergy or intolerance will be excluded from this study. 2. Subjects must be well enough to be in a home setting. 3. Patients participating in our simvastatin protocol (03-CH-3225) will be excluded from this study. |
Allocation: Randomized, Endpoint Classification: Efficacy Study, Intervention Model: Crossover Assignment, Masking: Double Blind (Subject, Caregiver, Investigator), Primary Purpose: Treatment
Country | Name | City | State |
---|---|---|---|
United States | National Institutes of Health Clinical Center, 9000 Rockville Pike | Bethesda | Maryland |
Lead Sponsor | Collaborator |
---|---|
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
United States,
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. — View Citation
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. — View Citation
Kelley RI. A new face for an old syndrome. Am J Med Genet. 1997 Jan 31;68(3):251-6. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Hyperactivity Sub-scale of the Aberrant Behavior Checklist-Community (ABC-C). | The Aberrant Behavior Checklist-Community (ABC-C) is a measure used to identify treatment efficacy among intellectually impaired individuals. ABC Subscale IV (Hyperactivity) has 16 items, each can be rated from 0 to 3, with 0 equal to not at all a problems, one the problem is the behavior but slight in degree, to the problem is moderately serious, 3 the problem is severe in degree. For this subscale, score can go from 0 - 48. The higher the score, the worse the hyperactivity. The comparison in this study was made between the blinded phases when patients received either egg yolk (treated, +cholesterol) or egg substitute (untreated, -cholesterol). Order was randomized. | 2 weeks | No |
Secondary | ABC Irritability Sub-scale | ABC Subscale I (Irritability) has 15 items, each can be rated from 0 to 3, with 0 equal to not at all a problem, 1 the problem is the behavior but slight in degree, 2 the problem is moderately serious, 3 the problem is severe in degree. For this subscale, score can go from 0 - 45 | 2 weeks | No |
Secondary | ABC Lethargy Sub-scale | ABC Subscale II (Lethargy) has 16 items, each can be rated from 0 to 3, with 0 equal to not at all a problems, 1 the problem is the behavior but slight in degree,2 the problem is moderately serious, 3 the problem is severe in degree. For this subscale, score can go from 0 - 48. | 2 weeks | No |
Secondary | ABC Stereotypy Sub-scale | ABC Subscale III (Stereotypy) has 7 items, each can be rated from 0 to 3, with 0 equal to not at all a problems, 1 the problem is the behavior but slight in degree, 2 the problem is moderately serious, 3 the problem is severe in degree. For this subscale, score can go from 0 - 21. | 2 weeks | No |
Secondary | ABC Inappropriate Behavior Sub-scale | ABC Subscale V (Inappropriate speech) has 4 items, each can be rated from 0 to 3, with 0 equal to not at all a problems, 1 the problem is the behavior but slight in degree, 2 the problem is moderately serious, 3 the problem is severe in degree. For this subscale, score can go from 0 - 12. | 2 weeks | No |
Secondary | ABC Total Score | ABC total score includes all the questions from subscales, with range of 0 to 174. Higher the score , the greater the problem. | 2 weeks | No |
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