Infantile Spasms Clinical Trial
Official title:
Genetic Studies in Patients and Families With Infantile Spasms
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?
Primary Aim 1: Apply whole-exome sequencing to determine possible causes of cryptogenic IS and evaluate adding whole-exome sequencing to standard practice for determining causes of IS. Sub-aim 1: Determine the effectiveness of whole-exome sequencing in suggesting disease-modifying genes that may contribute to triggering IS. Primary Aim 2: Determine genes, through whole-exome sequencing, that may play a role in determining ACTH responsiveness for IS. Sub-aim 2: Correlate genes or genetic factors (haplotypes) associated with ACTH responsiveness and disease modification. ;
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Withdrawn |
NCT02299115 -
Prednisolone Versus Vigabatrin in the First-line Treatment of Infantile Spasms
|
Phase 3 | |
| Completed |
NCT02885389 -
Molecular Genetics in Infantile Spasms
|
N/A | |
| Completed |
NCT01006811 -
Use of the Modified Atkins Diet in Infantile Spasms
|
Phase 2/Phase 3 | |
| Completed |
NCT01828437 -
Addition of Pyridoxine to Prednisolone in Infantile Spasms
|
Phase 3 | |
| Recruiting |
NCT01858285 -
Genetics of Epilepsy and Related Disorders
|
||
| Completed |
NCT00552045 -
Epilepsy Phenome/Genome Project
|
||
| Completed |
NCT02220114 -
Acceptability Study of a New Paediatric Form of Vigabatrin in Infants and Children With Infantile Spasms or Pharmacoresistant Partial Epilepsy
|
N/A | |
| Completed |
NCT02954887 -
Phase 3 Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms: Open-label Extension Phase (GWPCARE7)
|
Phase 3 | |
| Completed |
NCT02092883 -
Evaluation of Neuroinflammation in Children With Infantile Spasms
|
Phase 4 | |
| Withdrawn |
NCT01413711 -
An Open-Label, Single and Multiple Oral Dose Pharmacokinetic Study of Vigabatrin in Infants With Infantile Spasms
|
Phase 4 | |
| Terminated |
NCT00442104 -
Open-label Extension to Protocol 1042-0500
|
Phase 2 | |
| Completed |
NCT00441896 -
A Randomized, Controlled Trial of Ganaxolone in Patients With Infantile Spasms
|
Phase 2 | |
| Withdrawn |
NCT01549288 -
Trial of the Modified Atkins Diet in Infantile Spasms Refractory to Hormonal Therapy
|
Phase 2/Phase 3 | |
| Completed |
NCT01575639 -
Prednisolone in Infantile Spasms- High Dose Versus Usual Dose
|
Phase 3 | |
| Not yet recruiting |
NCT06315829 -
Artificial Intelligence-based Video Analysis to Detect Infantile Spasms
|
||
| Completed |
NCT01073579 -
Sabril Patient Registry
|
N/A | |
| Completed |
NCT02953548 -
Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms (GWPCARE7)
|
Phase 3 | |
| Completed |
NCT00001325 -
Metabolic Abnormalities in Children With Epilepsy
|
N/A | |
| Completed |
NCT00968136 -
Short-term Ketogenic Diet as Compared With Conventional Long-term Trial in Refractory Infantile Spasms: A Randomized, Controlled Study
|
N/A |