Using advanced DNA sequencing to diagnose rare diseases
Part of Brain & nervous system, Eyes & vision, Genetic & congenital, Hormones & metabolism, Mental health, Skin clinical trials.
This trial uses a new DNA sequencing method that reads long stretches of DNA to find genetic causes of rare diseases. It is for people who have intellectual development disorders or albinism and have not yet gotten a clear genetic diagnosis from standard tests.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You must have a sample of your DNA (already stored in the lab) or a frozen blood sample available at the genetics lab.
- You have a condition that fits one of two groups: a syndromic intellectual development disorder, or albinism (with specific signs like pale skin, nystagmus, or features seen by an eye doctor).
- If you have intellectual developmental disorder, you must be under 5 years old with severe delays, or 6 years or older with proven intellectual disability along with minor physical signs or organ malformations.
- If you have albinism, you must have at least two of the listed clinical signs.
- Standard genetic tests (like panel, exome, or genome sequencing) did not give you a clear answer, or found only one variant in a gene that needs two for the disease.
- You have not refused participation in research, and you or your legal representative has agreed to this research use of your genetic sample.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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