Infantile Spasms Clinical Trial
Official title:
Genetic Studies in Patients and Families With Infantile Spasms
NCT number | NCT01723787 |
Other study ID # | 12-0482 |
Secondary ID | |
Status | Completed |
Phase | |
First received | |
Last updated | |
Start date | March 2013 |
Est. completion date | November 30, 2018 |
Verified date | June 2021 |
Source | University of Colorado, Denver |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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?
Status | Completed |
Enrollment | 63 |
Est. completion date | November 30, 2018 |
Est. primary completion date | March 9, 2017 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 31 Days to 21 Years |
Eligibility | 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 |
Country | Name | City | State |
---|---|---|---|
United States | Children's Hospital Colorado | Aurora | Colorado |
Lead Sponsor | Collaborator |
---|---|
University of Colorado, Denver |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | 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 | Determine genes, through novel genetic analyses, that may play a role in determining ACTH responsiveness for IIS | Correlate genes or genetic factors (haplotypes) associated with ACTH responsiveness and disease modification | Results of the DNA studies will be evaluated prior to completion of the 5th year to assess the need for further investigations |
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