Genetic Studies in Patients and Families With Infantile Spasms

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Brief Title

Genetic Studies in Patients and Families With Infantile Spasms

Official Title

Genetic Studies in Patients and Families With Infantile Spasms

Brief 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?
    

Detailed Description

      Primary Aim 1: Apply whole-exome sequencing to determine possible causes of cryptogenic IS
      and evaluate adding whole-exome sequencing to standard practice for determining causes of IS.
      Sub-aim 1: Determine the effectiveness of whole-exome sequencing in suggesting
      disease-modifying genes that may contribute to triggering IS.

      Primary Aim 2: Determine genes, through whole-exome sequencing, that may play a role in
      determining ACTH responsiveness for IS. Sub-aim 2: Correlate genes or genetic factors
      (haplotypes) associated with ACTH responsiveness and disease modification.
    


Study Type

Observational


Primary Outcome

Determine the effectiveness of novel genetic analyses in suggesting disease-modifying genes that may contribute to triggering IIS.

Secondary Outcome

 Determine genes, through novel genetic analyses, that may play a role in determining ACTH responsiveness for IIS

Condition

Infantile Spasms


Study Arms / Comparison Groups

 Infantile Spasms
Description:  Participants retrospectively identified to have been treated with ACTH according to FDA-approved protocol for Infantile Spasms

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

63

Start Date

March 2013

Completion Date

November 30, 2018

Primary Completion Date

March 9, 2017

Eligibility Criteria

        Inclusion Criteria:

          -  Patient trios (both biological parents + patient with IIS = trio) with IIS
             retrospectively identified to have been treated with ACTH according to FDA-approved
             protocol (Table 1).

          -  Ability to provide informed consent (in case of severe to profound intellectual
             disability, consent provided by an legally authorized representative, as necessary)

        Exclusion Criteria:

          -  IIS due to suspected or genetically proven tuberous sclerosis

          -  IIS but do not meet retrospective enrollment criteria (Table 1)

          -  Inability to complete consent process
      

Gender

All

Ages

31 Days - 21 Years

Accepts Healthy Volunteers

No

Contacts

Tim Benke, MD, , 

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT01723787

Organization ID

12-0482


Responsible Party

Sponsor

Study Sponsor

University of Colorado, Denver


Study Sponsor

Tim Benke, MD, Principal Investigator, Children's Hospital Colorado


Verification Date

June 2021