Proprioception and Sensorimotor Control in Hereditary Sensory and Autonomic Neuropathy

This project comprises three sets of physiological studies - testing eight specific hypotheses - that will contribute new knowledge on proprioception and motor control in a genetic disorder that affects specific components of the sensory nervous system.

I: To investigate the neurophysiological basis for disturbed motor control in Hereditary sensory and autonomic neuropathy (HSAN) III II: To investigate the effects of enhancing cutaneous feedback on motor control in HSAN III III: To investigate the cortical representation of proprioceptive inputs in HSAN III

Study Overview

• Status: Completed
• Conditions: Atunomic Neuropathy
• Intervention / Treatment: Other: kinesiology tape around the hip, knee and ankle joints; Other: No kinesiology tape around the hip, knee and ankle joints

Detailed Description

HSAN III patients (n=15) and healthy control subjects (n=15) will lay supine on an MRI bed and a tungsten microelectrode inserted percutaneously into a muscle or cutaneous fascicle of the right common peroneal nerve at the fibular head, according to standard techniques employed by Prof Macefield. Neural activity will be acquired, RMS-processed (200 ms) and analysed on computer. The subject's head will be tightly enclosed in a standard clinical 32-channel SENSE head coil and headphones will be provided to minimize noise and to allow communication with the subject. The subject will be placed in the bore of a 3T whole-body scanner for 60-90 minutes.

• Study Type: Interventional
• Enrollment (Actual): 16
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • New York
    • New York, New York, United States, 10016
      • New York University School of Medicine

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years to 40 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria:

• Confirmed genetic diagnosis of HSAN III will be recruited from the Dysautonomia Center at NYU

Exclusion Criteria:

• homeless
• active drug or alcohol dependence
• evidence of neurological disorder or diabetes
• exposure to neurotoxic drugs that in the investigator's opinion may compromise results
• Pregnant women

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Basic Science
• Allocation: Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: HSAN III	Other: kinesiology tape around the hip, knee and ankle joints; We will also demonstrate that taping the skin increases the central representation of cutaneous afferent input in HSAN III.; Other: No kinesiology tape around the hip, knee and ankle joints; Investigators will demonstrate that taping the skin increases the central representation of cutaneous afferent input in HSAN III.
Active Comparator: Control Subjects	Other: kinesiology tape around the hip, knee and ankle joints; We will also demonstrate that taping the skin increases the central representation of cutaneous afferent input in HSAN III.; Other: No kinesiology tape around the hip, knee and ankle joints; Investigators will demonstrate that taping the skin increases the central representation of cutaneous afferent input in HSAN III.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Measurement of gait in HSAN III	120 Minutes

Collaborators and Investigators

• Sponsor: NYU Langone Health
• Investigators: Principal Investigator: Horacio Kaufmann, MD, New York University Medical School

Study record dates

Study Major Dates

• Study Start (Actual): November 1, 2016
• Primary Completion (Actual): July 25, 2019
• Study Completion (Actual): July 25, 2019

Study Registration Dates

• First Submitted: August 5, 2016
• First Submitted That Met QC Criteria: August 18, 2016
• First Posted (Estimate): August 24, 2016

Study Record Updates

• Last Update Posted (Actual): September 22, 2020
• Last Update Submitted That Met QC Criteria: September 18, 2020
• Last Verified: September 1, 2020

More Information

Terms related to this study

• Keywords: Hereditary Sensory Neuropathy; Autonomic Neuropathy; Familial Dysautonomia; proprioception; motor control; sensory nervous system.; HSAN III; IKBKAP gene mutation
• Additional Relevant MeSH Terms: Nervous System Diseases; Congenital Abnormalities; Genetic Diseases, Inborn; Neuromuscular Diseases; Neurodegenerative Diseases; Heredodegenerative Disorders, Nervous System; Nervous System Malformations; Polyneuropathies; Peripheral Nervous System Diseases; Hereditary Sensory and Autonomic Neuropathies
• Other Study ID Numbers: 16-00530

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No