CACNA1D- Associated Neurodevelopmental Disorder

Summary

This study is looking at how rare changes in the CACNA1D gene might affect health. The CACNA1D gene helps control important functions in the brain, heart, hearing, and more. Some changes in this gene may cause neurological problems, but it's still unclear which ones lead to specific diseases.

The purpose of this study is to collect health information from people with rare changes in this gene to understand how these changes might affect their health, especially in terms of neurological problems. We will test how these genetic changes impact the calcium ion channels, which play a key role in body functions.

Eligibility

Currently recruiting participants: Yes

Eligible ages: 0 to 90

Inclusion criteria:

Individuals will be eligible for the study if they:
1. Have a rare variant in the CACNA1D gene.
2. Have undiagnosed disease symptoms that might be genetic and cannot be explained by a known genetic variant in another gene.
3. Their guardian gives written consent to take part in the study.

Exclusion criteria:

Individuals will not be eligible for the study if they:
1. Do not have a rare variant in the CACNA1D gene.
2. Have secondary diagnoses (such as traumatic brain injury, stroke, or severe birth complications) that could affect how we interpret clinical findings related to CACNA1D variants, especially concerning neurodevelopment.
3. Are unable to read or understand the patient information provided and/or give written informed consent.

Participate

Fill out the following form if you want to participate in this research

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Additional information

Contact information

please contact the research coordinator snezana.plecasmaricic@ahs.ca or have your clinician contact the research coordinator.

Principal investigator:

Ping-Yee Au

Clinical trial:

REB-ID:

REB25-0139