Genetic Studies in Patients and Families With Infantile Spasms
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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 |
- 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.
- 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 |
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_
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| 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 | |
| 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 May 19, 2013