Rare Disease News & FDA Approvals

Clinical trialCLINICALTRIALSApr 14

Trial Now Recruiting: Monogenic Kidney Stone - Genetic Testing (NCT03305835)

Researchers at Mayo Clinic are looking for 6,000 people with rare kidney stone diseases caused by a single gene mutation to join a study. The study will identify which specific genes and genetic changes cause these kidney stones. By understanding the genetics behind these stones, scientists hope to develop better treatments in the future.

WHY IT MATTERSIf you have a rare monogenic kidney stone disease, this trial could help identify the genetic cause of your condition and accelerate development of targeted treatments — and you can enroll now.

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ResearchPUBMEDApr 1

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self-Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery.

Researchers tested whether people could get genetic testing (genome sequencing) without always needing to see a genetics specialist first. They studied 313 people of all ages who had unexplained symptoms and could refer themselves or be referred by any doctor. The study found that people who referred themselves were just as likely to get a diagnosis as those referred by specialists. This suggests a new way to make genetic testing available to more people while still having genetics experts review the results.

WHY IT MATTERSIf this hybrid model works, patients with rare diseases could access genome sequencing faster and more easily without waiting for a genetics specialist appointment, potentially shortening the diagnostic odyssey that many rare disease patients experience.

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Rare disease news

Trial Now Recruiting: Monogenic Kidney Stone - Genetic Testing (NCT03305835)

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self-Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery.

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