Clinical trialUNITERAREApr 15
Researchers are looking for pregnant women with NMOSD (a rare disease that affects the nerves in the eyes and spinal cord) who have taken or are taking a medicine called UPLIZNA to join a safety study. The study will track what happens to these women and their babies to make sure the medicine is safe during pregnancy. This information will help doctors understand whether UPLIZNA can be used safely by pregnant patients with NMOSD.
WHY IT MATTERSThis trial is recruiting pregnant women with NMOSD who have been exposed to UPLIZNA — currently there is limited safety data on this drug during pregnancy, so this study directly addresses a critical gap for women of childbearing age managing this serious neurological condition.
Clinical trialCLINICALTRIALSApr 14
Researchers are testing a new medicine called pozelimab in young children ages 1 to 5 who have CHAPLE disease, a rare inherited condition that affects the stomach, intestines, heart, and blood vessels. This study is checking whether the medicine is safe and well-tolerated in this young age group. CHAPLE disease can cause serious symptoms, so finding safe treatments for young children is important.
WHY IT MATTERSThis is the first safety trial of pozelimab in very young children (ages 1-5) with CHAPLE disease, offering families of affected toddlers a potential treatment option when few alternatives exist for this life-threatening condition.
ResearchCLINICALTRIALSMar 30
This study is looking for 2,800 people to help researchers understand how being a caregiver affects a person's health and stress levels over time. The study includes caregivers of people with rare diseases like Batten disease, Tay-Sachs disease, and other inherited metabolic disorders, as well as caregivers of people with undiagnosed diseases. By learning more about caregiver stress, researchers hope to find ways to better support the millions of unpaid family caregivers in the U.S.
WHY IT MATTERSIf you or a family member care for someone with a rare inherited metabolic disorder, Batten disease, Tay-Sachs, or an undiagnosed disease, this study directly addresses the health challenges caregivers face and could lead to better support resources.
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.