Rare Disease News & FDA Approvals

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New Clinical Trial: Assessment of Femoral Failure Load and Fracture Risk in Rare Bone Disorders Using MEKANOS Tool. Case Study of Fibrous Dysplasia of Bone/McCune Albright Syndrome (NCT07507942)

Researchers in France are studying a new tool called MEKANOS that measures how strong bones are and predicts fracture risk in people with fibrous dysplasia, a rare bone disease. This clinical trial involves 20 patients and aims to solve a major problem doctors face: they currently have no good way to know which patients are at highest risk of bone breaks. The study could help doctors make better treatment decisions for this condition.

WHY IT MATTERSThis trial addresses a critical gap in fibrous dysplasia care—doctors currently lack reliable tools to predict which patients will experience fractures, making this the first systematic assessment of fracture risk in this population.

💬 Ask your doctorFibrous Dysplasia of Bone McCune-Albright Syndrome Read →

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Trial Now Recruiting: A Pilot Study to Assess the Feasibility and Acceptability of Newborn Screening Using in Silico Panel-based Solo Genome Sequencing in France (NCT06875089)

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.

→ You can act on thisRare genetic diseases detectable at birth Conditions currently missed by standard newborn screening Read →

Rare disease news

New Clinical Trial: Assessment of Femoral Failure Load and Fracture Risk in Rare Bone Disorders Using MEKANOS Tool. Case Study of Fibrous Dysplasia of Bone/McCune Albright Syndrome (NCT07507942)

Trial Now Recruiting: A Pilot Study to Assess the Feasibility and Acceptability of Newborn Screening Using in Silico Panel-based Solo Genome Sequencing in France (NCT06875089)

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