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

• ClinicalTrials.gov Identifier: NCT04974307
• Recruitment Status: Recruiting
• First Posted: July 23, 2021
• Last Update Posted: July 6, 2022
• Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
• Information provided by (Responsible Party): National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) )

Study Description

Brief Summary:

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 blindness.

Objective:

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

Eligibility:

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

Condition or disease	Intervention/treatment	Phase
CLN3-related Disorders; Low Vision	Device: OrCam MyEye 2	Not Applicable

Detailed Description:

CLN3 is a fatal, lysosomal disease that results in progressive neurodegeneration. The initial clinical presentation is vision loss, resulting in legal blindness by 7-8 years of age in most individuals with classic CLN3. The early and relatively rapid visual changes significantly impact the quality of life of individuals with CLN3. Current standard accommodative approaches for the progressive blindness, i.e. enlarged fonts, Braille, sign language, have limited applicability given the multiple disabilities associated with the neurodegeneration. Though treatment trials are in development, none specifically targets low vision. We propose a pilot study of an augmentative visual device, OrCam MyEye 2 (OrCam), in pediatric individuals with CLN3-related conditions. Information on the use of the OrCam MyEye 2 device in the pediatric population with low vision is not available. Thus, to evaluate the feasibility and effectiveness of this device in children with low vision, and no concomitant neurodegenerative process, we will also include a cohort of pediatric individuals with low vision but without a CLN3-related disorder. 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. The study objectives are to assess the safety, feasibility, and effectiveness of OrCam use by pediatric individuals with CLN3 or low vision.

Study Design

• Study Type: Interventional (Clinical Trial)
• Estimated Enrollment: 50 participants
• Allocation: N/A
• Intervention Model: Single Group Assignment
• Masking: None (Open Label)
• Primary Purpose: Device Feasibility
• Official Title: Pilot Study of an Optic-to-Audio Device in a Pediatric Cohort With CLN3-related Conditions or Low Vision
• Actual Study Start Date: September 30, 2021
• Estimated Primary Completion Date: January 20, 2025
• Estimated Study Completion Date: January 20, 2025

Arms and Interventions

Arm

Intervention/treatment

Experimental: Device; use of OrCam MyEye 2.0

Device: OrCam MyEye 2; The study uses the OrCam MyEye 2, 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. The study participants and parents/guardians will be trained on how to use the device. Evaluations for primary and secondary endpoints will be done following 1 week and 1 month of device use.

Outcome Measures

Primary Outcome Measures :

1. To assess: a) safety and b) feasibility of using OrCam MyEye 2 by children with CLN3 or low vision [ Time Frame: 1 week, 1 month ]
   a) Adverse events; b) Feasibility test, Feasibility questionnaire, and Device use diary

Secondary Outcome Measures :

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

Eligibility Criteria

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

Criteria

• INCLUSION CRITERIA:

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

-Has 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:

• Two CLN3 pathogenic variants,

• One CLN3 pathogenic variant AND

  • clinical presentation suggestive of CLN3, OR

  • characteristic electron microscopy (EM) findings (such as curvilinear body, fingerprint profile, granular osmiophilic deposits).

    • Has an estimated visual acuity in the better seeing eye < 20/200, without the use of an assistive or augmentative device.
    • 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:
• Has 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.

Contacts and Locations

Contacts

Contact: An N Dang Do, M.D.; (301) 496-8849; an.dangdo@nih.gov

Locations

United States, Maryland

National Institutes of Health Clinical Center; Recruiting

Bethesda, Maryland, United States, 20892

Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 prpl@cc.nih.gov

Sponsors and Collaborators

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)

More Information

Additional Information:

NIH Clinical Center Detailed Web Page 

• Responsible Party: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
• ClinicalTrials.gov Identifier: NCT04974307
• Other Study ID Numbers: 10000414; 000414-CH
• First Posted: July 23, 2021
• Last Update Posted: July 6, 2022
• Last Verified: May 27, 2022

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

Keywords provided by National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ):

OrCam; Legal blindness; Safety; Feasibility; Efficacy

Additional relevant MeSH terms:

Vision, Low; Vision Disorders; Sensation Disorders; Neurologic Manifestations; Nervous System Diseases; Eye Diseases