Genetic Studies in Patients and Families With Infantile Spasms
Completed
Conditions studied: Infantile Spasms
In brief
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?
Key facts
- Study ID
- NCT01723787
- Run by
- University of Colorado, Denver
- People needed
- 63
- Starts
- 2013-03-01
- Expected to finish
- 2018-11-30
- Last updated by the study team
- 2021-06-14
Who can join
Age: 0 and older, up to 21. Sex: any. Healthy volunteers: not accepted.
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
Where it is running
- Children's Hospital Colorado — Aurora, Colorado, United States
Full record on ClinicalTrials.gov
Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.