NCT03954652

Who might be able to join this trial:

• Your condition does not yet have a clear genetic explanation identified
• There is reason to believe your condition may be caused by a genetic (inherited) factor
• Healthy parents of an affected person may also be included to help with genetic analysis
• People with an intellectual disability (IQ below 70), with or without physical differences or other features, whether or not linked to a known syndrome (Cohort 1)
• People with certain inherited eye conditions, such as retinitis pigmentosa, colour blindness conditions, Bardet-Biedl syndrome, Usher syndrome, night blindness, Leber congenital amaurosis (LCA), macular degeneration, or damage to the optic nerve or retinal cells (Cohort 2)
• Children with certain rare solid cancers, such as melanoma, cancers of the digestive system, tumours of the salivary glands, or pancreatic tumours (Cohort 3)

Who may not be able to join:

• People in Cohort 1 whose condition was caused by toxins, medications, or infections rather than genetics
• People in Cohort 2 whose vision loss is not caused by a genetic condition
• Adults with cancer, or anyone with a blood-related cancer, are not eligible for Cohort 3
• People who have not given (or whose legal guardian has not given) written agreement to take part in the trial
• People whose samples from both parents are not available
• People who have already had a specific type of genetic testing called whole exome sequencing (WES) or a gene panel analysis

Important: Always verify eligibility with the trial site directly before applying.