Infantile SpasmsNCT01723787
Genetic Studies in Patients and Families With Infantile Spasms
An observational study of Infantile Spasms, run by University of Colorado, Denver at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 31 days to 21 years
- Conditions the study is for
- Infantile Spasms
- How many people
- 63 participants
- Where
- 1 siteUnited States
- Study dates
- Mar 2013to 30 Nov 2018
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 31 days to 21 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: 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)
Who may be able to join
- 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)
Who cannot join
- IIS due to suspected or genetically proven tuberous sclerosis
- IIS but do not meet retrospective enrollment criteria (Table 1)
- Inability to complete consent process
Trial locations and contacts
1 site in 1 country.
United States1 site
Children's Hospital Colorado
Aurora, Colorado, 80045
About this study
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?
Read the detailed description
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.
- Conditions
- Infantile Spasms
- Medical subject headings
- Spasms, Infantile
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: Results of the DNA studies will be evaluated prior to completion of the 5th year to assess the need for further investigations.
Secondary outcomes (1)
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
Measured: Results of the DNA studies will be evaluated prior to completion of the 5th year to assess the need for further investigations
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Nov 2012 (estimated)
- Study startMar 2013
- Primary completion9 Mar 2017
- Study completion30 Nov 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Infantile SpasmsStudies of the same condition, open and under way.
- More trials run by University of Colorado, DenverThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 63 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Colorado, Denver
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Tim Benke, MD, Principal investigator, Children's Hospital Colorado
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01723787
- Sponsor's protocol ID
- 12-0482
- Status last verified
- Jun 2021
- First submitted
- 6 Nov 2012
- Last updated
- 14 Jun 2021
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 14 Jun 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Studies in Patients and Families With Infantile Spasms
- ClinicalTrials.gov ID
- NCT01723787
- Acronym / sponsor ID
- 12-0482
- Conditions
- Infantile Spasms
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 63 participants (actual)
- Lead sponsor
- University of Colorado, DenverUniversity, hospital or other
- Study start
- Mar 2013
- Primary completion
- 9 Mar 2017 (actual)
- Study completion
- 30 Nov 2018 (actual)
- First posted
- 8 Nov 2012 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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?
Detailed description
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.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Ages
- 31 days to 21 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- 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)
Key inclusion criteria (2 listed)
- 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)
Key exclusion criteria (3 listed)
- IIS due to suspected or genetically proven tuberous sclerosis
- IIS but do not meet retrospective enrollment criteria (Table 1)
- Inability to complete consent process
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Determine the effectiveness of novel genetic analyses in suggesting disease-modifying genes that may contribute to triggering 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.
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
1 secondary outcome
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Jun 2021.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Tim Benke, MD principal investigator
Children's Hospital Colorado
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Infantile Spasms, run by University of Colorado, Denver at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 14 Jun 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Determine the effectiveness of novel genetic analyses in suggesting disease-modifying genes that may contribute to triggering 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.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 Jun 2021.