Genetic Studies in Patients and Families With Infantile Spasms

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2013 by University of Colorado, Denver
Sponsor:
Information provided by (Responsible Party):
University of Colorado, Denver
ClinicalTrials.gov Identifier:
NCT01723787
First received: November 6, 2012
Last updated: March 25, 2013
Last verified: March 2013
  Purpose

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?


Condition
Infantile Spasms

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Genetic Studies in Patients and Families With Infantile Spasms

Resource links provided by NLM:


Further study details as provided by University of Colorado, Denver:

Primary Outcome Measures:
  • Apply novel genetic analyses to determine possible causes of cryptogenic IIS and evaluate adding novel genetic analyses to standard practice for determining causes of IIS [ Time Frame: Results of the DNA studies will be evaluated prior to completion of the 5th year to assess the need for further investigations. ] [ Designated as safety issue: No ]
    Determine the effectiveness of novel genetic analyses in suggesting disease-modifying genes that may contribute to triggering IIS.


Secondary Outcome Measures:
  • Determine genes, through novel genetic analyses, that may play a role in determining ACTH responsiveness for IIS [ Time Frame: Results of the DNA studies will be evaluated prior to completion of the 5th year to assess the need for further investigations ] [ Designated as safety issue: No ]
    Correlate genes or genetic factors (haplotypes) associated with ACTH responsiveness and disease modification


Biospecimen Retention:   Samples With DNA

blood, saliva, buccal cells,urine


Estimated Enrollment: 60
Study Start Date: March 2013
Estimated Study Completion Date: September 2017
Estimated Primary Completion Date: May 2017 (Final data collection date for primary outcome measure)
Groups/Cohorts
Infantile Spasms
Participants retrospectively identified to have been treated with ACTH according to FDA-approved protocol for Infantile Spasms
biological parents
Biological parents of participants retrospectively identified to have been treated with ACTH according to FDA-approved protocol for Infantile Spasms

  Eligibility

Ages Eligible for Study:   31 Days and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

All patients trios (both parents + patient with IIS = trio) with IIS retrospectively identified to have been treated with ACTH according to FDA-approved protocol will be eligible for inclusion in this study regardless of age, sex, ethnicity/race, or socioeconomic status. The principal recruitment venues will be Neurology clinics, in-patient service and Medical Genetics Clinics at Children's Hospital Colorado and University of Colorado Health Sciences Center (UCHSC_

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 IDA, consent provided by an LAR, 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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01723787

Locations
United States, Colorado
Children's Hospital Colorado Recruiting
Aurora, Colorado, United States, 80045
Contact: Alicia M Camuto, BA, CCRP    720-777-5514    alicia.camuto@childrenscolorado.org   
Principal Investigator: Tim Benke, MD         
Sponsors and Collaborators
University of Colorado, Denver
Investigators
Principal Investigator: Tim Benke, MD Children's Hospital Colorado
  More Information

No publications provided

Responsible Party: University of Colorado, Denver
ClinicalTrials.gov Identifier: NCT01723787     History of Changes
Other Study ID Numbers: 12-0482
Study First Received: November 6, 2012
Last Updated: March 25, 2013
Health Authority: United States: Food and Drug Administration
United States: Institutional Review Board

Additional relevant MeSH terms:
Spasm
Spasms, Infantile
Neuromuscular Manifestations
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Epilepsy, Generalized
Epilepsy
Brain Diseases
Central Nervous System Diseases

ClinicalTrials.gov processed this record on July 28, 2014