Optic-to-Audio Device in a Pediatric Cohort With CLN3-related Conditions or Low Vision

Pilot Study of an Optic-to-Audio Device in a Pediatric Cohort With CLN3-related Conditions or Low Vision

Background:

CLN3 involves vision loss observed around the preschool years, with eventual progression to blindness within 1-3 years. Researchers want to test an assistive device that may help children with CLN3 or with non-CLN3 related blindness.

Objective:

To learn if it is safe, easy, and useful for children with CLN3 or with non-CLN3 related blindness to use the OrCam.

Eligibility:

People aged 6-18 years who have either CLN3-related disease or non-CLN3 related blindness.

Design:

Participants will be screened with the following:

Medical history

Physical exam

Family history

Eye exam and vision tests. They will get eyedrops to dilate their eyes.

Psychological and neurocognitive tests. They will be asked questions and observed for how they do various tasks, such as talking, playing, writing, drawing, and solving problems.

Hearing tests. They may wear headphones or earplugs. Electrodes may be taped to their head.

Blood samples

Skin biopsy, if needed

Cheek cell, saliva, or urine samples

The OrCam is the size of and weighs about half as much as a pack of gum. It is attached to eyeglass frames by magnets. Participants will do tasks before and after they have been trained on the OrCam. They will do these tasks without or with using the OrCam.

Participants will be given an OrCam to use for 1 week or 1 month. They will have check-in sessions with the study team.

Participants and/or their caregivers will be asked about abilities, behaviors, social skills, learning methods, intelligence, and health-related quality of life.

Participants samples may be used for genetic testing and/or to make a type of stem cell.

Participation will last for 1-5 weeks.

Study Overview

• Status: Terminated
• Conditions: CLN3-related Disorders; Non-CLN3 Related Low Vision
• Intervention / Treatment: Device: OrCam MyEye 2

Detailed Description

Study Description:

This is a pilot study of an augmentative visual device, OrCam MyEye 2 (OrCam), in pediatric individuals with CLN3-related conditions or low vision. We hypothesize that, given the relatively simple design and operating procedure of the device, the use of the OrCam by study participants will be safe and feasible. We also hypothesize that the device will enhance their ability to obtain visually based information.

Objectives:

Primary: Assess the safety and feasibility of OrCam use by children with CLN3 or low vision.

Endpoints:

Primary:

1. Adverse events during the use of OrCam
2. Feasibility test
3. Feasibility questionnaire

The assessment periods will be 1 week at study site.

• Study Type: Interventional
• Enrollment (Actual): 11
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • Maryland
    • Bethesda, Maryland, United States, 20892
      • National Institutes of Health Clinical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 6 years to 18 years (Child, Adult)
• Accepts Healthy Volunteers: No

Description

INCLUSION CRITERIA:

To participate in the screening portion of this study, an individual must meet all of the following criteria:

1. Have a diagnosis or suspected diagnosis of any genetically based condition causing low vision to the level specified in criteria 2.

   If the genetic condition is CLN3-related, the individual must have one of the following:

   • a. Two CLN3 pathogenic variants, OR

   • b. One CLN3 pathogenic variant AND

     • i. clinical presentation suggestive of CLN3, OR
     • ii. characteristic electron microscopy (EM) findings (such as curvilinear body, fingerprint profile, granular osmiophilic deposits).
2. Have an estimated visual acuity in the better seeing eye < 20/200, without the use of an assistive or augmentative device.
3. Is between 6 to 18 years of age.

To participate in the intervention/device use portion of this study, an individual must meet the above screening criteria and the following criteria:

• Have an appropriate cognitive developmental ability to participate based on Investigators screening assessment.

EXCLUSION CRITERIA:

An individual who meets any of the following criteria will be excluded from participation in this study:

• Has any of the following auditory dysfunctions: non-reversible or non-correctable hearing loss, tinnitus that is chronic or occurring daily, auditory hallucinations that occur daily.
• Uses an optic-to-audio assistive device at the time or within 3 months of screening and enrollment.
• Is unable to travel to the NIH because of medical condition for required in-person portions of the study.
• Is unable to comply with or have medical conditions that would potentially increase the risk of participation.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Device Feasibility
• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Children with CLN3 disease; Children with CLN3 use the OrCam MyEye 2, a 22.5-g portable, eyeglass-mounted device that converts camera-captured inputs to auditory outputs for text reading, facial recognition, and product identification. The study participants and parents/guardians were trained on how to use the device.	Device: OrCam MyEye 2; The OrCam MyEye 2 is a 22.5-g portable, eyeglass-mounted device that converts camera-captured inputs to auditory outputs. Its advertised functions include text reading, facial recognition, and product identification.
Experimental: Children with Low vision without CLN3; Children with low vision not related to CLN3 use the OrCam MyEye 2, a 22.5-g portable, eyeglass-mounted device that converts camera-captured inputs to auditory outputs for text reading, facial recognition, and product identification. The study participants and parents/guardians were trained on how to use the device.	Device: OrCam MyEye 2; The OrCam MyEye 2 is a 22.5-g portable, eyeglass-mounted device that converts camera-captured inputs to auditory outputs. Its advertised functions include text reading, facial recognition, and product identification.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Participants With Adverse Events	Number of participants with adverse events related to the use of OrCam MyEye 2. Adverse events were collected from parental report.	1 week

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
To assess the efficacy of using the OrCam by children with CLN3 or low vision	1) Function Test - Efficacy Scores; 2) Ability questionnaire	1 week, 1 month

Collaborators and Investigators

• Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
• Investigators: Principal Investigator: An N Dang Do, M.D., Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Publications and helpful links

Helpful Links

• NIH Clinical Center Detailed Web Page

Study record dates

Study Major Dates

• Study Start (Actual): September 30, 2021
• Primary Completion (Actual): October 6, 2023
• Study Completion (Actual): October 7, 2023

Study Registration Dates

• First Submitted: July 22, 2021
• First Submitted That Met QC Criteria: July 22, 2021
• First Posted (Actual): July 23, 2021

Study Record Updates

• Last Update Posted (Actual): October 23, 2024
• Last Update Submitted That Met QC Criteria: October 21, 2024
• Last Verified: February 1, 2024

More Information

Terms related to this study

• Keywords: Safety; Feasibility; Efficacy; OrCam; Legal blindness
• Additional Relevant MeSH Terms: Neurologic Manifestations; Nervous System Diseases; Eye Diseases; Vision Disorders; Sensation Disorders; Vision, Low
• Other Study ID Numbers: 10000414; 000414-CH

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: De-identified individual participant data (IPD) that underlie results in a publication will be shared.
• IPD Sharing Time Frame: Data may be requested 5 years after the completion of the primary endpoint
• IPD Sharing Access Criteria: Contact the principal investigator or National Institute of Child Health and Human Development (NICHD)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: Yes