Clinical trial NCT01869270: Gene Therapy for Tay-Sachs Disease
Official title: Gene Therapy for Tay-Sachs Disease (Phase 1: Natural History Data Gather)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Tay Sachs Disease
Sandhoff Disease
Late Onset Tay Sachs Disease
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
Lead sponsor: University of Minnesota
Sponsor class: OTHER
Collaborators: name: Rare Diseases Clinical Research Network
name: National Center for Advancing Translational Sciences (NCATS)
name: National Institute of Neurological Disorders and Stroke (NINDS)
name: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
First posted: 2013-06-05
Enrollment: 4
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Any person, living or dead, who has been diagnosed with a hexosaminidase deficiency disease

Brief 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 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.

Eligibility criteria: Inclusion Criteria:

Any person who has been diagnosed with a hexosaminidase deficiency disease can be included in this study.

Exclusion Criteria:

The only exclusion criteria is a desire not to participate in this study.

Primary outcomes:
measure: Biomarkers
timeFrame: Participants will be followed for the duration of the study, an expected average of two years.
Secondary outcomes:
measure: Results of Ancillary Therapies or Treatments
timeFrame: Participants will be followed for the duration of the study, an expected average of two years.
measure: Clinical Indicators
timeFrame: Participants will be followed for the duration of the study, an expected average of two years.
Other outcomes:
Locations:
city: Tampa
country: United States
facility: Data Management and Coordinating Center (DMCC), Univ. of South Florida
state: Florida
city: Minneapolis
country: United States
facility: University of Minnesota
state: Minnesota
Study officials:
affiliation: University of Minnesota
name: Chester B. Whitley, PhD, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: University of South Florida
name: Jeffrey Krischer, PhD
role: PRINCIPAL_INVESTIGATOR
References: