Tay Sachs DiseaseNCT01869270
Gene Therapy for Tay-Sachs Disease
An observational study of Tay Sachs Disease and Sandhoff Disease, run by University of Minnesota at 2 sites in United States.
Trial summary
Hypothesis: To study the natural history of Tay-Sachs disease and evaluate therapeutic interventions. This study is intended to work in collaboration with NCT00668187 "A Natural History Study of Hexosaminidase Deficiency." Because so few patients with Tay-Sachs disease present annually, we will maximize both research… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Tay Sachs Disease, Sandhoff Disease, Late Onset Tay Sachs Disease
- How many people
- 4 participants
- Where
- 2 sitesUnited States
- Study dates
- Dec 2010to Aug 2014
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Any person, living or dead, who has been diagnosed with a hexosaminidase deficiency disease
Who may be able to join
- Any person who has been diagnosed with a hexosaminidase deficiency disease can be included in this study.
Who cannot join
- The only exclusion criteria is a desire not to participate in this study.
Trial locations and contacts
2 sites in 1 country.
United States2 sites
University of Minnesota
Minneapolis, Minnesota, 55455
Data Management and Coordinating Center (DMCC), Univ. of South Florida
Tampa, Florida, 33612
About this study
Official title: Gene Therapy for Tay-Sachs Disease (Phase 1: Natural History Data Gather)
Hypothesis: To study the natural history of Tay-Sachs disease and evaluate therapeutic interventions.
This study is intended to work in collaboration with NCT00668187 "A Natural History Study of Hexosaminidase Deficiency." Because so few patients with Tay-Sachs disease present annually, we will maximize both research projects by enrolling patients in both studies. For this present study, we will perform retrospective medical record review to gather data. Through this medical record review, we will collect biomarker analysis results, neuroimaging report data, quality-of-life questionnaire data and ophthalmology exam findings. If the subject has undergone therapy or treatment, the results will be noted.
Read the detailed description
Much has been done in the past four decades to better understand, improve diagnostic measures of, and prevent hexosaminidase deficiency diseases, yet all of them - Tay-Sachs, Sandhoff, and Late Onset Tay-Sachs (LOTS) - remain diseases without treatment. Much work remains to be done to understand and effectively treat these diseases. To date, no comprehensive assessment of the natural history of Tay-Sachs or Sandhoff has been undertaken. The information that is gathered through this study will characterize and describe the Tay-Sachs disease population as a whole, including the variability and progression of this disease. This information, in turn, will function as a point of reference against which to assess the efficacy of therapeutic interventions. Therapeutic interventions may include any treatments/therapies the subject may have undergone in the past, including hematopoietic cell transplantation, and/or the administration of miglustat, acetylcysteine, or other pharmaceutical agents; and possible future gene therapies.
- Keywords
- hexosaminidase deficiency, Tay-Sachs disease, Sandhoff disease, late-onset Tay-Sachs disease, adult-onset Tay-Sachs disease, late onset Tay Sachs disease, adult onset Tay Sachs disease, retrospective, hexosaminidase A activity, GM2-ganglioside, gangliosidoses, natural history, hexosaminidase
- Medical subject headings
- Tay-Sachs Disease, Sandhoff Disease, Gangliosidoses, GM2, Gangliosidoses
What is being measured
The primary outcome is the main question the study is designed to answer.
Biomarkers
Biomarkers data to be collected include:
- CSF (cerebro-spinal fluid) hexosaminidase A activity
- CSF GM2-ganglioside
- CSF protein
- CSF chitotriosidase
Measured: Participants will be followed for the duration of the study, an expected average of two years.
Secondary outcomes (2)
Results of Ancillary Therapies or Treatments
The results of any ancillary therapies or treatments will be noted. Such therapies or treatments may include hematopoietic cell transplantation and/or pharmacologic interventions.
Measured: Participants will be followed for the duration of the study, an expected average of two years.
Clinical Indicators
Clinical indicators data to be collected include:
- Cranial morphology from MRI exam reports
- Ophthalmologic exam findings
- Behavioral assessment and quality-of-life questionnaire responses from NCT00668187, which collaborates with the present study
- Life-span length
Measured: Participants will be followed for the duration of the study, an expected average of two years.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Jun 2013 (estimated)
- Study startDec 2010
- Primary completionJul 2014
- Study completionAug 2014
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 University of MinnesotaThe 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
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 4 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Minnesota
- Sponsor type
- University, hospital or other
- Collaborators
- Rare Diseases Clinical Research Network, National Center for Advancing Translational Sciences (NCATS), National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- Responsible party
- Sponsor
- Investigators
- Chester B. Whitley, PhD, MD, Principal investigator, University of MinnesotaJeffrey Krischer, PhD, Principal investigator, University of South Florida
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01869270
- Sponsor's protocol ID
- 0905M66723
- Other IDs
- U54NS065768
- Status last verified
- Dec 2014
- First submitted
- 22 May 2013
- Last updated
- 4 Dec 2014
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 4 Dec 2014. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Gene Therapy for Tay-Sachs Disease (Phase 1: Natural History Data Gather)
- ClinicalTrials.gov ID
- NCT01869270
- Acronym / sponsor ID
- 0905M66723
- Keywords
- hexosaminidase deficiency, Tay-Sachs disease, Sandhoff disease, late-onset Tay-Sachs disease, adult-onset Tay-Sachs disease, late onset Tay Sachs disease, adult onset Tay Sachs disease, retrospective
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 4 participants (actual)
- Lead sponsor
- University of MinnesotaUniversity, hospital or other
- Collaborators
- Rare Diseases Clinical Research Network, National Center for Advancing Translational Sciences (NCATS), National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- Study start
- Dec 2010
- Primary completion
- Jul 2014 (actual)
- Study completion
- Aug 2014 (actual)
- First posted
- 5 Jun 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.
Hypothesis: To study the natural history of Tay-Sachs disease and evaluate therapeutic interventions.
This study is intended to work in collaboration with NCT00668187 "A Natural History Study of Hexosaminidase Deficiency." Because so few patients with Tay-Sachs disease present annually, we will maximize both research projects by enrolling patients in both studies. For this present study, we will perform retrospective medical record review to gather data. Through this medical record review, we will collect biomarker analysis results, neuroimaging report data, quality-of-life questionnaire data and ophthalmology exam findings. If the subject has undergone therapy or treatment, the results will be noted.
Detailed description
Much has been done in the past four decades to better understand, improve diagnostic measures of, and prevent hexosaminidase deficiency diseases, yet all of them - Tay-Sachs, Sandhoff, and Late Onset Tay-Sachs (LOTS) - remain diseases without treatment. Much work remains to be done to understand and effectively treat these diseases. To date, no comprehensive assessment of the natural history of Tay-Sachs or Sandhoff has been undertaken. The information that is gathered through this study will characterize and describe the Tay-Sachs disease population as a whole, including the variability and progression of this disease. This information, in turn, will function as a point of reference against which to assess the efficacy of therapeutic interventions. Therapeutic interventions may include any treatments/therapies the subject may have undergone in the past, including hematopoietic cell transplantation, and/or the administration of miglustat, acetylcysteine, or other pharmaceutical agents; and possible future gene therapies.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Any person, living or dead, who has been diagnosed with a hexosaminidase deficiency disease
Key inclusion criteria (1 listed)
- Any person who has been diagnosed with a hexosaminidase deficiency disease can be included in this study.
Key exclusion criteria (1 listed)
- The only exclusion criteria is a desire not to participate in this study.
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
Biomarkers
Time frame: Participants will be followed for the duration of the study, an expected average of two years.
Biomarkers data to be collected include: 1. CSF (cerebro-spinal fluid) hexosaminidase A activity 2. CSF GM2-ganglioside 3. CSF protein 4. CSF chitotriosidase
2 secondary outcomes
Results of Ancillary Therapies or Treatments
Time frame: Participants will be followed for the duration of the study, an expected average of two years.
Clinical Indicators
Time frame: Participants will be followed for the duration of the study, an expected average of two years.
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 4 Dec 2014.
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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.
Chester B. Whitley, PhD, MD principal investigator
University of Minnesota
Jeffrey Krischer, PhD principal investigator
University of South Florida
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Tay Sachs Disease and Sandhoff Disease, run by University of Minnesota at 2 sites 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 1 inclusion and 1 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 4 Dec 2014. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites 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?
Biomarkers (time frame: Participants will be followed for the duration of the study, an expected average of two years.). 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 4 Dec 2014.