Genetic Studies in Patients and Families With Infantile Spasms

NCT01723787 | Completed

• 1 other identifier: 12-0482
• Study Type: observational
• Target: 63
• Locations: 1 country
• Sites: 1

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?

Conditions

Infantile Spasms

Outcome Measures

Primary Outcomes (1)

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

  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

  Results of the DNA studies will be evaluated prior to completion of the 5th year to assess the need for further investigations.

Secondary Outcomes (1)

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

  Results of the DNA studies will be evaluated prior to completion of the 5th year to assess the need for further investigations

Study Arms (2)

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 Criteria

• Age: 31 Days - 21 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• 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)

You may qualify if:

• 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)

You may not qualify if:

• IIS due to suspected or genetically proven tuberous sclerosis
• IIS but do not meet retrospective enrollment criteria (Table 1)
• Inability to complete consent process

Sponsors & Collaborators

• University of Colorado, Denver: lead

Study Sites (1)

Children's Hospital Colorado

Aurora, Colorado, 80045, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

blood, saliva, buccal cells,urine

MeSH Terms

Conditions

Spasms, Infantile

Condition Hierarchy (Ancestors)

Epilepsy, Generalized; Epilepsy; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Epileptic Syndromes

Study Officials

• Tim Benke, MD

  Children's Hospital Colorado

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 6, 2012
• First Posted: November 8, 2012
• Study Start: March 1, 2013
• Primary Completion: March 9, 2017
• Study Completion: November 30, 2018
• Last Updated: June 14, 2021

Record last verified: 2021-06

Locations

US (1)