Cholesterol in ASD: Characterization and Treatment

NCT00965068 | Completed Phase 1

• 2 other identifiers: 09020309-CH-0203
• Study Type: interventional
• Target: 44
• Locations: 1 country
• Sites: 1

Brief Summary

Background: \- Autism spectrum disorders (ASD) are developmental disabilities characterized by impaired social interaction and repetitive and/or stereotypical behaviors. Research studies suggest that some individuals with ASD have very low blood cholesterol levels. This low cholesterol level and other abnormal sterol levels may be important markers for subtypes of ASD. Providing additional cholesterol to the diets of children with ASD may help improve behavior. \- These findings will guide the medical community in identifying individuals who should be tested for sterol disorders. This study will also help researchers learn whether adding extra cholesterol to the diet will improve behavioral and other autism spectrum characteristics seen in individuals with ASD and low cholesterol. Objectives:

• To determine cholesterol levels in children with autism spectrum disorders.
• To compare behavioral and other characteristics among children who have autism spectrum disorders and high, low, or normal cholesterol levels.
• To determine whether adding cholesterol to the diet will improve behavioral and other characteristics in individuals with ASD and low cholesterol. Eligibility: \- Children between the ages of 4 and 12 who have been diagnosed with an autism spectrum disorder. Design:
• Initial screening study will involve a collection of blood samples (for study purposes and cholesterol testing).
• Children who have low cholesterol levels will take part in a study in which they will receive either cholesterol supplementation or a placebo, and will have detailed physical and psychological examinations to measure possible improvement in behavioral or other characteristics.
• Children who have high or normal cholesterol levels will have further blood samples taken, and will undergo an additional set of examinations for comparison purposes.
• Researchers may request blood or DNA samples from other family members (parents or siblings), which will be collected through blood draws and cheek swabs.

Conditions

Autism; Asperger Disorder; PDD-NOS

Keywords

Autism; Autism Spectrum Disorder; Cholesterol; Smith-Lemli-Opitz Syndrome; ASD; Pervasive Developmental Disorder; PPD-NOS

Outcome Measures

Primary Outcomes (1)

• Behavioral Changes

Interventions

Cholesterol OTHER

Eligibility Criteria

• Age: 4 Years - 12 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may not qualify if:

• Screening Visit:
• Parents agree to use a multivitamin with minerals if their child is selected to continue to the cholesterol supplementation clinical trial.
• Parents agree to not change the doses of other dietary supplement throughout the clinical trial, including megavitamins.
• Supplements or medications that are not meant to lower cholesterol levels but are likely to have cholesterol-lowering effects (such as Omega 3 or fish oil) will be permitted if the dose has been stable for at least 3 months prior to the initial screening visit.
• Male or female between the ages of 4.0-12.0 years at the time of consent/assent.
• Clinically diagnosed with an ASD for which no cause has been detected.
• Anticonvulsants used for the treatment of a seizure disorder will be permitted if the dosage has been stable for 3 months, and the subject is seizure free for at least 3 months.
• Known pregnancy.
• Subject has SLOS or known cholesterol synthesis/regulation disorder.
• The subject has had an anticonvulsant dose change in the preceding 3 months or a seizure in the preceding 3 months.
• DSM-IV diagnosis of Rett Disorder, childhood disintegrative disorder, schizophrenia, another psychotic disorder, or substance abuse.
• A significant medical condition such as heart disease, hypertension, liver or renal failure, pulmonary disease, diabetes, or unstable seizure disorder identified by history, physical examination, or laboratory tests.
• Dietary supplementation doses, including megavitamins, have changed within the preceding 3 months.
• Currently on or has taken a statin or other medication meant to lower cholesterol within the preceding 3 months.
• Currently on or has taken dietary cholesterol supplementation within the preceding 3 months.

Sponsors & Collaborators

• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• 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: 9024565 BACKGROUND

• 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: 9024564 BACKGROUND

• Kaufmann WE, Cortell R, Kau AS, Bukelis I, Tierney E, Gray RM, Cox C, Capone GT, Stanard P. Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors. Am J Med Genet A. 2004 Sep 1;129A(3):225-34. doi: 10.1002/ajmg.a.30229.

  PMID: 15326621 BACKGROUND

MeSH Terms

Conditions

Autistic Disorder; Asperger Syndrome; Autism Spectrum Disorder; Smith-Lemli-Opitz Syndrome; Child Development Disorders, Pervasive

Interventions

Cholesterol

Condition Hierarchy (Ancestors)

Neurodevelopmental Disorders; Mental Disorders; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Steroid Metabolism, Inborn Errors; Dyslipidemias; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Cholestenes; Cholestanes; Steroids; Fused-Ring Compounds; Polycyclic Compounds; Sterols; Membrane Lipids; Lipids

Study Officials

• Forbes D Porter, M.D.

  Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: RANDOMIZED
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 24, 2009
• First Posted: August 25, 2009
• Study Start: July 28, 2009
• Study Completion: November 14, 2013
• Last Updated: July 5, 2018

Record last verified: 2015-06-08

Locations

US (1)