Investigation of Neuroserpin as an Autism Candidate Gene

NCT00917683 | Terminated

• 1 other identifier: IRB#5811
• Study Type: observational
• Target: 5
• Locations: 1 country
• Sites: 1

Brief Summary

Previously it has been shown that Familial Encephalopathy with neuroserpin inclusion bodies (FENIB) patients develop abnormalities that partially overlap with Autism Spectrum disorders (ASD), confounded with additional features that could be explained by inclusion body formation not expected in subjects with inclusion body forming SERPINI1 mutations. There is no described human neuroserpin deficiency phenotype. The neuroserpin knockout mouse phenotype also suggests a possible overlap with autism. Neuroserpin could contribute directly at the synapse or through altered neuron migration during early development leading to the "underconnectivity" that underlies autism by potentially contributing to the excess of short connections and not enough long ones seen in autistic brains, possibly due to an imbalance in pruning of neurons and synapses early in life. It is thus proposed to sequence the neuroserpin gene in initially 20, and subsequently up to 100 idiopathic autistic patients selected as having the language impairment and perseveration endophenotypes.

Conditions

Autism

Outcome Measures

Primary Outcomes (1)

• Determine SERPIN1 gene sequence variation in autistic subjects.

  one year

Study Arms (2)

1

Autistic patients.

2

Matched controls

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Autistic patients and their first degree relatives

You may qualify if:

• Autistic patient, or first degree relative of autistic patient

You may not qualify if:

• Less than one year of age.

Sponsors & Collaborators

• State University of New York - Upstate Medical University: lead

Study Sites (1)

SUNY Upstate Medical University

Syracuse, New York, 13210, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

DNA will be isolated from peripheral blood samples.

MeSH Terms

Conditions

Autistic Disorder

Condition Hierarchy (Ancestors)

Autism Spectrum Disorder; Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders

Study Officials

• Antony E Shrimpton, PhD

  State University of New York - Upstate Medical University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER

Study Record Dates

• First Submitted: June 8, 2009
• First Posted: June 10, 2009
• Study Start: June 1, 2009
• Primary Completion: April 1, 2012
• Study Completion: April 1, 2012
• Last Updated: April 19, 2016

Record last verified: 2016-04

Locations

US (1)