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Investigation of Neuroserpin as an Autism Candidate Gene

NCT00917683 · Status: TERMINATED · Type: OBSERVATIONAL · Enrollment: 5

Last updated 2016-04-19

No results posted yet for this study

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

Sponsors & Collaborators

  • State University of New York - Upstate Medical University

    lead OTHER

Principal Investigators

  • Antony E Shrimpton, PhD · State University of New York - Upstate Medical University

Eligibility

Min Age
1 Year
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2009-06-30
Primary Completion
2012-04-30
Completion
2012-04-30

Countries

  • United States

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00917683 on ClinicalTrials.gov