#Rydel seiffer tuning fork trial#

Subjects 18- 35 years old inclusive with CMT1A will be enrolled.

Exploratory outcome measures will include 10 meter run/walk timed test (10M), 100 meter timed test (100M), peroneal and ulnar CMAP amplitude and sensory and motor conduction velocities, a revised sensory testing to increase sensitivity for pinprick, touch-test and vibration assessments, visual analogue scales for pain and fatigue, Short Form Health Survey (SF-36) as Quality of Life measure, and circulating NT-3 levels. The CMTPedS is an 11-item scale comprised of the Functional Dexterity Test, Nine-Hole Peg Test (9HPT), hand grip, foot plantar flexion, foot dorsiflexion, pinprick sensation, vibration sensation, the Bruininks Oseretsky Test- Balance assessment, gait assessment, long jump, and six-minute walk test (6MWT). The secondary endpoint is efficacy defined as halting of the decline in functional and sensory abilities measured by the CMT Pediatric Scale (CMTPedS) at 2 years post gene transfer. Stopping criteria are based on development of unacceptable toxicity defined as the occurrence of any one Grade III or higher, unanticipated, treatment-related toxicity. Safety is the primary endpoint for this clinical gene transfer trial. Post-gene transfer monitoring will include follow up visits on days 7, 14, 30, 60, 90, 120, and months 6, 9, 12, 15, 18 and 24 following gene transfer. These adult subjects will be enrolled at an effective dose (8.87e11 vg/kg) based on a qPCR titer using linearized standards, equivalent to 4.00x1012 vg/kg based on a qPCR titer using supercoiled standards) distributed bilaterally between both limbs in Cohort 1.

Three CMT1A patients, 18 to 35 years of age will be enrolled into one cohort in this trial.

#Rydel seiffer tuning fork trial#

This clinical trial is an open-label, one-time injection study in which 3 will be administered by intramuscular injections into the medial and lateral heads of gastrocnemius, tibialis anterior, and rectus femoris muscles in both legs in CMT1A subjects with PMP22 gene duplication.

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