Genetic Studies in Patients and Families With Infantile Spasms
| Status: | Active, not recruiting |
|---|---|
| Conditions: | Other Indications |
| Therapuetic Areas: | Other |
| Healthy: | No |
| Age Range: | Any - 21 |
| Updated: | 12/29/2018 |
| Start Date: | March 2013 |
| End Date: | October 2019 |
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?
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.
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.
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
We found this trial at
1
site
13123 E 16th Ave
Aurora, Colorado 80045
Aurora, Colorado 80045
(720) 777-1234
Principal Investigator: Tim Benke, MD
Phone: 720-777-5514
Children's Hospital Colorado At Children's Hospital Colorado, we see more, treat more and heal more...
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