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Genetic Studies in Patients and Families With Infantile Spasms

NCT01723787 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 63

Last updated 2021-06-14

No results posted yet for this study

Summary

Infantile spasms (IIS), a characteristic epilepsy syndrome of infancy with often catastrophic developmental consequences, is known in some patients to have many different genetic, metabolic and structural etiologies. However, for most patients IIS is the only presenting clinical feature and the specific cause is unknown. Only two FDA approved pharmacologic treatments for IIS exist, Adrenocorticotropic hormone (ACTH) and vigabatrin. While vigabatrin may be the treatment of choice for Tuberous Sclerosis as a cause for IS, ACTH is the treatment of choice for all others. Unfortunately, a substantial number of patients may still not respond to ACTH and there is no a priori way that suggests which patients may be responders. This has led to the following key questions:

Can novel genetic analyses determine known genetic causes of IS with greater efficiency (more timely and cost-effective)? Can novel genetic analyses determine previously unknown disease modifying genes that predispose individuals to develop IS? Can novel genetic analyses elaborate genes and gene polymorphisms that favor ACTH responsiveness? Do these polymorphisms suggest strategies to improve ACTH responsiveness?

Conditions

  • Infantile Spasms

Sponsors & Collaborators

  • University of Colorado, Denver

    lead OTHER

Principal Investigators

  • Tim Benke, MD · Children's Hospital Colorado

Eligibility

Min Age
31 Days
Max Age
21 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2013-03-31
Primary Completion
2017-03-09
Completion
2018-11-30

Countries

  • United States

Study Locations

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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 NCT01723787 on ClinicalTrials.gov