Your Voice Matters: Join the study on Speech & Language in CLCN4-related condition

We are thrilled to announce that the Translational Centre of Research Excellence for Speech Disorders (Australia) has launched an international study aimed at exploring speech and language in individuals with CLCN4-related condition.

If you or a loved have been diagnosed with this condition, this is your opportunity to contribute to groundbreaking research!

Check if you are eligible

The research team is looking for individuals who:

  • Are aged 6 months to adulthood
  • Diagnosed with a pathogenic or likely pathogenic CLCN4 variant by genetic test
  • Who are verbal or non-verbal

What is involved?

  • Completing online surveys about speech and language skills, and health and medical history

  • An online Zoom session (for English speaking participants) with a speech pathologist for further assessment (1 hour)

  • Participants will receive a brief report on their speech & language abilities from a qualified Speech Pathologist.

About the Research Team

The Translational Centre of Research Excellence for Speech Disorders examines speech and language in individuals with rare genetic conditions. They are trying to better understand the strengths and difficulties of communication in children with rare genetic syndromes. Their long-term aim is to help develop better targeted therapies.

Can I participate if I don’t speak English?

Yes you can! Participation is also possible in Spanish, French, German, Italian and Portuguese. If you do not speak English, participation will only involve the online survey (but you will still receive a report). For information in your language please click the corresponding button below.

Interested in participating?

If you or someone you know may be interested in helping with this research, please get in touch with the research team by emailing them at:

Corporate Foundation Sponsors

Get in Touch. Get Involved.

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