Clinical trialCLINICALTRIALSApr 14
Researchers are looking for young adults ages 15-25 with rare genetic disabilities to join a study about getting jobs and education. The study will follow 300 participants and examine the challenges these young people face when trying to go to school, get internships, or find work. Many young people with rare genetic diseases struggle with these opportunities because of their condition and lack of support.
WHY IT MATTERSThis trial directly addresses employment and education barriers that young adults with rare genetic disabilities face — areas where they typically have the fewest resources and support.
ResearchCLINICALTRIALSMar 27
Researchers are looking for 63 participants to help them understand how DNA changes in babies before birth compare to DNA changes after birth. They want to collect DNA from amniotic fluid (the fluid around a baby in the womb) or from tissue samples after delivery to create a reference guide. This guide will help doctors better diagnose rare genetic diseases that start before birth.
WHY IT MATTERSThis trial could improve how doctors diagnose rare genetic diseases in fetuses and newborns by establishing what normal DNA patterns look like before birth, which is currently unknown.
Clinical trialCLINICALTRIALSMar 27
Researchers in France are recruiting 5,000 newborns to test a new way of screening for rare diseases using genome sequencing—a complete reading of a baby's DNA. Instead of the current blood spot tests that check for only a few dozen conditions, this study will see if reading a baby's entire genome can safely and effectively find many more rare genetic diseases at birth. This is one of the first major studies in Europe to test this approach.
WHY IT MATTERSThis trial could expand newborn screening in France to detect dozens of additional rare genetic diseases at birth, potentially allowing earlier treatment and better health outcomes for babies with conditions that currently go undiagnosed until symptoms appear.
ResearchPUBMEDMar 26
Researchers are developing a new way to make sure patients with Aicardi-Goutieres Syndrome (AGS) have a real voice in designing clinical trials for new treatments. AGS is a rare genetic disease that affects the brain and causes inflammation. This study creates a method to listen to what matters most to patients and families so that future drug trials measure the things that actually improve their lives.
WHY IT MATTERSAs new treatments for AGS move toward clinical trials, this research ensures that the outcomes being measured in those trials reflect what patients and families actually care about—not just what doctors think is important.
ResearchCLINICALTRIALSMar 26
Boston Children's Hospital is looking for 10,000 families with rare genetic diseases that haven't been diagnosed or fully understood yet. Researchers will study the genes and proteins in these families to figure out what's causing their conditions. The goal is to help doctors diagnose and treat rare diseases better in the future.
WHY IT MATTERSIf your family has been searching for answers about a rare or undiagnosed genetic condition, this study could help identify what's causing it and contribute to better treatments for others with the same disease.
ResearchCLINICALTRIALSMar 26
Researchers at the National Heart, Lung, and Blood Institute are collecting blood and tissue samples from up to 10,000 people to study rare genetic diseases. They want to understand what causes these diseases by examining the samples in a lab. People of any age with undiagnosed or heart and lung diseases can participate. Samples can be collected at the NIH Clinical Center or through your own doctor.
WHY IT MATTERSThis biorepository is actively recruiting and could help researchers identify the genetic causes of your undiagnosed condition, potentially leading to better treatments and diagnosis methods for rare diseases.