Otoferlin gene-mediated hearing loss natural history study

Project status: Active

Research area: Population Health > Centre for Community Child Health > Prevention Innovation

A natural history study in individuals with Otoferlin gene-mediated hearing loss

Auditory neuropathy is a type of hearing loss that can have a genetic cause. This study aims to gain a better understanding of the natural course of hearing loss caused by changes in the otoferlin gene.

About the study

Auditory neuropathy is a type of hearing loss that can have a genetic cause. There are many genes that could be involved. One gene is called the otoferlin gene, which makes a protein called otoferlin. Otoferlin is essential for the normal functioning of the ear. Changes in the otoferlin gene can cause sound transmission from the inner hair cells to the hearing nerves to be significantly reduced.

This study aims to gain a better understanding of the natural course of hearing loss caused by changes in the otoferlin gene.

Study funding

It is part of an international study sponsored by a pharmaceutical company called Akouos Inc, a wholly-owned subsidiary of Eli Lilly and Company.

Participant information

Recruitment for this study has now closed.

The information below is for participants who have already enrolled.

What is involved for those who have been recruited?

You/your child will review a participant information sheet/consent form with a study staff member so you both can learn about the study and have a chance to ask questions. You must sign the form if you decide you/your child will participate.
You will then talk to a genetic counsellor to help decide if genetic testing is right for you/your child.
If you decide to participate, you/your child will provide a saliva sample for genetic testing. the genetic test called next generation sequencing. This involves taking a saliva (spit) sample to look for changes in genes linked to hearing loss.
The genetic counsellor will contact you to talk about your/your child’s results.

Note: You do not need to attend The Royal Children’s Hospital (RCH) Melbourne, to participate in genetic testing. A saliva sample can be sent by post and genetic counselling can take place by telehealth if preferred.

What happens next?

If results show your child’s hearing loss is caused by a change in the otoferlin gene, we may invite you/your child to share hearing and medical information and/or take part in hearing tests at RCH approximately every six months for up to five years.
Changes in the otoferlin gene are rare, so most participants will not be invited for ongoing appointments.

Where is this study being conducted?

This study is being conducted at MCRI, The Royal Children’s Hospital (RCH) and the University of Melbourne.

Otoferlin gene-mediated hearing loss natural history study
Murdoch Children's Research Institute
The Royal Children's Hospital
50 Flemington Road
Parkville VIC 3052
Australia

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Email: [email protected]

Research team

Team members	Role
Associate Professor Valerie Sung	Paediatrician and Lead researcher
Dr Lilian Downie	Clinical Geneticist
Nicola Camporeale	Audiologist, The Royal Children's Hospital
Libby Smith	Research team