Primary Outcomes

Description: The Weill Cornell LINCL scale, a 12 point scale which combines assessment of feeding, gait, motor and language to give an overall assessment of various CNS functions (Appendix II for the paper describing the scale and Appendix VI for the scale)27. The lowest possible score is 0 (less progressed in disease) and the highest possible score is 12 (more progressed in disease). This rating scale evaluation will be performed by 2 independent pediatricians, on the basis of a videotaped evaluation. If the 2 independent scores differ by 1 or less they will be averaged and if they differ by greater than 1 point, a consensus will be obtained by a 3rd pediatrician. This outcome measure will look at changes over time.

Description: 3 imaging parameters (% gray matter volume, % ventricular volume and cortical apparent diffusion coefficient) correlate with age and the Weill Cornell LINCL scale. These 3 imaging parameters will be used to assess disease progression (control protocol) and safety of the gene transfer vector (vector protocol) over time. In addition to these imaging parameters we will also perform magnetic resonance spectroscopy (MRS) but the data obtained from this will be for information only for method development. This outcome measure will look at changes over time.

Secondary Outcomes

Description: The CHQ or ITQoL, a quality of life questionnaire which will be completed by at least one parent/legal guardian at the time of the LINCL patients' visits to Weill Cornell. The survey will be administered independently to each parent to minimize observer bias if both parents are present. This outcome measure looks at a change over time.The lowest possible score is 0 (corresponds to lower health-related quality of life) and the highest possible score is 100 (corresponds to better health-related quality of life).

Description: The Mullen scale, a pediatric developmental psychological rating scale, will be administered by a developmental psychologist, and be videotaped. This outcome measure will look at changes over time. The lowest possible score is 0 (corresponds to less psychological development) and the highest possible score is 197 (corresponds to better psychological development).

Primary Outcomes

Description: A clinical rating, 12 point scale which combines assessment of feeding, gait, motor and language to give an overall assessment of various CNS functions.

Description: Based on previous analyses, we have determined that 3 imaging parameters (% grey matter volume, MRI Assessment, % ventricular volume and cortical apparent diffusion coefficient) correlate best with age and with the Weill Cornell LINCL scale and will be used to assess disease progression and the effect of the gene transfer.

Description: Based on previous analyses, we have determined that 3 imaging parameters (% grey matter volume, MRI Assessment, % ventricular volume and cortical apparent diffusion coefficient) correlate best with age and with the Weill Cornell LINCL scale and will be used to assess disease progression and the effect of the gene transfer.

Description: Based on previous analyses, we have determined that 3 imaging parameters (% grey matter volume, MRI Assessment, % ventricular volume and cortical apparent diffusion coefficient) correlate best with age and with the Weill Cornell LINCL scale and will be used to assess disease progression and the effect of the gene transfer.

Secondary Outcomes

Description: The quality of life survey that will be completed by at least one parent/legal guardian at the screening visit and the month 18 visit will be either the Infant Toddler Quality of Life (ITQoL) questionnaire or the Child Health Questionnaire (CHQ), depending on the age of the subject. The ITQoL is administered to subjects up to the age of five and the CHQ is administered to subjects from age 5-18.

Description: Averaging the scores from the Mullen Scale