Tay Sachs DiseaseNCT01999257

Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent.

A study testing Online pre-test genetic education tool in people with Tay Sachs Disease and Canavan Disease, run by McGill University Health Centre/Research Institute of the McGill University Health Centre at 1 site in Canada.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record

Search all trials

Trial summary

The investigators have developed a new website to educate persons of Ashkenazi Jewish ancestry about their increased risk for having children with certain genetic conditions, and the genetic testing the investigators offer. Read more about this study

Who is it for?: Ages 18 years and olderHealthy volunteers can take part
Conditions the study is for: Tay Sachs Disease, Canavan Disease, Familial Dysautonomia
What is being tested?: Online pre-test genetic education tool
Could I receive a placebo?: No, everyone receives an active treatment
How many people: 60 participants
Where: 1 siteCanada
Study dates: Jul 2014to Aug 2017
Phase: Interventional
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 18 years and older
All sexes
Healthy volunteers accepted
Adult, Older adult

Who may be able to join

At least one grandparent of Ashkenazi Jewish descent
Access to computer at home and computer literate

Who cannot join

Participant or participant's partner is pregnant at time of study
Family history of an Ashkenazi Jewish genetic condition

Trial locations and contacts

1 site in 1 country.

Canada1 site

Montreal General Hospital (MUHC)
Montreal, Quebec, H3G 1A4

Other trials in Canada

About this study

Official title: Assessing the Outcomes of Web-based Pre-test Educational Module for Carrier Genetic Screening in Individuals of Ashkenazi Jewish Descent

Participants in the study will be assigned to one of two conditions:

Standard in-person genetic counselling session to learn about inheritance of Ashkenazi Jewish genetic conditions and genetic testing. Participants will fill out two short questionnaires, one before and one after the genetic counselling session. They will then be given a requisition form to undergo blood draw for genetic testing at the Montreal General Hospital test centre.
Use of a web-based pre-test genetic counselling tool to learn about inheritance of Ashkenazi Jewish genetic conditions and genetic testing. They will fill out two short questionnaires, one before, and one after using the web-based tool. They will then be electronically sent a requisition form to undergo blood draw for genetic testing at the Montreal General Hospital test centre.

In both conditions, genetic test results will be communicated by telephone once they are available. Participants' genetic test results will not be used in any way for the study.

Read the detailed description

In Montreal, individuals of Ashkenazi Jewish descent are eligible to have carrier screening for three genetic conditions: Tay-Sachs disease, Canavan disease, and familial dysautonomia. The investigators have developed a new website to educate persons of Ashkenazi Jewish ancestry about their increased risk for having children with these genetic conditions, and the genetic testing the investigators offer. This study aims to pilot the website to find out whether it is effective and to learn what the investigators can improve. Specifically, the investigators will measure knowledge acquisition, level of anxiety, and degree of satisfaction with their experience.

Participants in the study will be assigned to one of two conditions:

Standard in-person genetic counselling session to learn about inheritance of Ashkenazi Jewish genetic conditions and genetic testing. Participants will fill out two short questionnaires, one before and one after the genetic counselling session. These questionnaires assess demographic information, knowledge regarding the three genetic conditions listed above, feelings and anxiety levels, e-health literacy, and overall satisfaction. They will then be given a requisition form to undergo blood draw for genetic testing at the Montreal General Hospital test centre.
Use of a web-based pre-test genetic counselling tool to learn about inheritance of Ashkenazi Jewish genetic conditions and genetic testing. They will fill out two short questionnaires, one before, and one after using the web-based tool. These questionnaires are similar to those in the condition above, except there will also be questions regarding the utility of the web-based tool and ways to improve the tool. Participants will then be electronically sent a requisition form to undergo blood draw for genetic testing at the Montreal General Hospital test centre.

In both conditions, genetic test results will be communicated by telephone once they are available. Participants' genetic test results will not be used in any way for the study.

Conditions: Tay Sachs Disease, Canavan Disease, Familial Dysautonomia
Being tested: Online pre-test genetic education tool
Keywords: Genetic Counseling, Technology, Ashkenazi Jewish, Carrier screening
Medical subject headings: Tay-Sachs Disease, Canavan Disease, Dysautonomia, Familial

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

Online pre-test genetic education toolOther
See Arm Descriptions above.

Study groups in NCT01999257
Study group	Role	What they receive
In-person counselling	No intervention	Similar to standard of care, wherein Ashkenazi Jewish individuals seeking carrier genetic screening meet a genetic counsellor for an in-person education and counselling session.
Online pre-test genetic education tool	Active comparator	Use of a web-based pre-test education program, wherein the information from a typical genetic counselling session for carrier screening in Ashkenazi Jewish individuals is presented. Receives: Other: Online pre-test genetic education tool

What is being measured

The primary outcome is the main question the study is designed to answer.

Knowledge of Ashkenazi Jewish genetic conditions
Evaluated by questionnaire developed specifically for this study.
Measured: 1 hour

Secondary outcomes (3)

Patient anxiety
Evaluated by 6-item short form state trait anxiety inventory (Becker and Marteau 1992)
Measured: 1 hour
Satisfaction with web-based/in-person genetic counselling
Assessed by questionnaire, developed from pre-existing genetic counselling research (Shiloh et al. 1990; Yip et al. 2003)
Measured: 1 hour
Perceived risk of having a child with an Ashkenazi Jewish genetic condition
Evaluated by questionnaire developed specifically for this study.
Measured: 1 hour

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

Jul 2014Aug 2017

First posted3 Dec 2013 (estimated)
Study startJul 2014
Primary completionApr 2015
Study completionAug 2017

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Other trials for Tay Sachs DiseaseStudies of the same condition, open and under way.
More trials run by McGill University Health Centre/Research Institute of the McGill University Health CentreThe 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: Interventional
Phase: Phase N/A
Primary purpose: Health services research
Allocation: Randomised
Intervention model: Parallel groups
Masking: None (open label)
Enrolment: 60 participants (estimated)

IDs, dates and publications

ClinicalTrials.gov ID: NCT01999257
Sponsor's protocol ID: 3281
Status last verified: Aug 2017
First submitted: 25 Nov 2013
Last updated: 17 Aug 2017
Results posted: No
Data monitoring committee: No
Individual data sharing: Yes: Publication of study results in a peer-reviewed journal.

Want to know more?

The sponsor has not listed a contact. The official record may have more details.

Talk to your doctor first and take this page with you. Only the study team can confirm whether you can join.

Questions to ask the study team

What is the study trying to find out?
What would I need to do, and how often would I visit?
Could I receive a placebo instead of the treatment?
What are the possible risks and benefits for me?
Will it cost me anything? Are travel or time paid for?
Can I keep seeing my own doctor during the study?
What happens when the study ends?

See locations

RecruitingObservational study
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
Neurological Regression, Myoclonus
RecruitingPhase 3
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease (NPC)
Niemann-Pick Type C Disease
RecruitingPhase 3
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease, GM1 Gangliosidosis or GM2 Gangliosidosis
Niemann-Pick Type C Disease, GM1 Gangliosidosis
Not yet recruitingPhase 2/3
Long-Term Safety and Tolerability of Nizubaglustat in Participants With Rare Lysosomal Disorders
Niemann-Pick Disease Type C, GM2 Gangliosidosis
Active, not recruitingPhase 2
A Study to Evaluate the Safety and Efficacy of Nizubaglustat (AZ-3102) in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease
GM2 Gangliosidosis, Niemann-Pick Type C Disease

All Tay Sachs Disease trials

Study at a glance

From the registry record, last updated by the sponsor on 17 Aug 2017. Recruitment status is as the sponsor reported it: confirm with the study team.

Official title: Assessing the Outcomes of Web-based Pre-test Educational Module for Carrier Genetic Screening in Individuals of Ashkenazi Jewish Descent
ClinicalTrials.gov ID: NCT01999257
Acronym / sponsor ID: 3281
Conditions: Tay Sachs Disease, Canavan Disease, Familial Dysautonomia
Keywords: Genetic Counseling, Technology, Ashkenazi Jewish, Carrier screening
Study type: Interventional
Recruitment status: Completed
Enrolment: 60 participants (estimated)
Lead sponsor: McGill University Health Centre/Research Institute of the McGill University Health CentreUniversity, hospital or other
Study start: Jul 2014
Primary completion: Apr 2015 (actual)
Study completion: Aug 2017 (actual)
First posted: 3 Dec 2013 (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.

Participants in the study will be assigned to one of two conditions:

Standard in-person genetic counselling session to learn about inheritance of Ashkenazi Jewish genetic conditions and genetic testing. Participants will fill out two short questionnaires, one before and one after the genetic counselling session. They will then be given a requisition form to undergo blood draw for genetic testing at the Montreal General Hospital test centre.
Use of a web-based pre-test genetic counselling tool to learn about inheritance of Ashkenazi Jewish genetic conditions and genetic testing. They will fill out two short questionnaires, one before, and one after using the web-based tool. They will then be electronically sent a requisition form to undergo blood draw for genetic testing at the Montreal General Hospital test centre.

In both conditions, genetic test results will be communicated by telephone once they are available. Participants' genetic test results will not be used in any way for the study.

Detailed description

Participants in the study will be assigned to one of two conditions:

Standard in-person genetic counselling session to learn about inheritance of Ashkenazi Jewish genetic conditions and genetic testing. Participants will fill out two short questionnaires, one before and one after the genetic counselling session. These questionnaires assess demographic information, knowledge regarding the three genetic conditions listed above, feelings and anxiety levels, e-health literacy, and overall satisfaction. They will then be given a requisition form to undergo blood draw for genetic testing at the Montreal General Hospital test centre.
Use of a web-based pre-test genetic counselling tool to learn about inheritance of Ashkenazi Jewish genetic conditions and genetic testing. They will fill out two short questionnaires, one before, and one after using the web-based tool. These questionnaires are similar to those in the condition above, except there will also be questions regarding the utility of the web-based tool and ways to improve the tool. Participants will then be electronically sent a requisition form to undergo blood draw for genetic testing at the Montreal General Hospital test centre.

In both conditions, genetic test results will be communicated by telephone once they are available. Participants' genetic test results will not be used in any way for the study.

Study design

Primary purpose: Health services research
Allocation: Randomised
Intervention model: Parallel groups
Masking: None (open label)
Number of arms: 2

Arm	Type	Receives
In-person counselling	No intervention	–Similar to standard of care, wherein Ashkenazi Jewish individuals seeking carrier genetic screening meet a genetic counsellor for an in-person education and counselling session.
Online pre-test genetic education tool	Active comparator	Other: Online pre-test genetic education toolUse of a web-based pre-test education program, wherein the information from a typical genetic counselling session for carrier screening in Ashkenazi Jewish individuals is presented.

Who may qualify

Ages: 18 years and older
Sex: All
Healthy volunteers: Accepted
Age groups: Adult, Older adult

Key inclusion criteria (2 listed)

At least one grandparent of Ashkenazi Jewish descent
Access to computer at home and computer literate

Key exclusion criteria (2 listed)

Participant or participant's partner is pregnant at time of study
Family history of an Ashkenazi Jewish genetic condition

Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.

Interventions

Intervention	Type	Arms
Online pre-test genetic education toolSee Arm Descriptions above.	Other	Online pre-test genetic education tool

Primary outcome

Knowledge of Ashkenazi Jewish genetic conditions
Time frame: 1 hour
Evaluated by questionnaire developed specifically for this study.

3 secondary outcomes

Patient anxiety
Time frame: 1 hour
Satisfaction with web-based/in-person genetic counselling
Time frame: 1 hour
Perceived risk of having a child with an Ashkenazi Jewish genetic condition
Time frame: 1 hour

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 17 Aug 2017.
Individual participant dataSharing planned: Yes. Publication of study results in a peer-reviewed journal.

Related trials for Tay Sachs Disease

RecruitingObservational study
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
Neurological Regression, Myoclonus
RecruitingPhase 3
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease (NPC)
Niemann-Pick Type C Disease
RecruitingPhase 3
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease, GM1 Gangliosidosis or GM2 Gangliosidosis
Niemann-Pick Type C Disease, GM1 Gangliosidosis
Not yet recruitingPhase 2/3
Long-Term Safety and Tolerability of Nizubaglustat in Participants With Rare Lysosomal Disorders
Niemann-Pick Disease Type C, GM2 Gangliosidosis
Active, not recruitingPhase 2
A Study to Evaluate the Safety and Efficacy of Nizubaglustat (AZ-3102) in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease
GM2 Gangliosidosis, Niemann-Pick Type C Disease

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.

Guillaume Sillon, MSc principal investigator

McGill University Health Centre/Research Institute of the McGill University Health Centre

1 site in 1 country: see every site and its status.

Questions about this trial

What is this clinical trial studying?

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 2 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 17 Aug 2017. 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 Canada. 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?

Knowledge of Ashkenazi Jewish genetic conditions (time frame: 1 hour). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT01999257.

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 17 Aug 2017.