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Mom's Fight Fuels Rare Disease Drug Trial
17 Aug
Summary
- Neena Nizar, a Jansen's disease patient, spearheaded an experimental drug trial.
- Jansen's disease is a rare genetic disorder affecting bone growth and calcium.
- The drug aims to prevent debilitating effects in future child participants.
Neena Nizar, who has the rare genetic disorder Jansen's disease, has become the pivotal figure in an experimental drug trial at the National Institutes of Health. Jansen's disease, known to affect only about 30 individuals globally, causes significant bone deformities and constant pain. Ms. Nizar's own struggle and her father's extensive efforts to find a diagnosis highlight the arduous path for rare disease treatments.
The journey to this trial began decades ago with early diagnoses and surgeries for Ms. Nizar. The genetic basis of Jansen's disease was later identified by researchers Harald Jueppner and Thomas Gardella, who discovered a peptide that could potentially correct the genetic defect.
Ms. Nizar's determination led her to connect with these researchers, overcoming significant funding hurdles. She attended Rare Disease Day events to advocate for research, eventually securing a place for the peptide drug in clinical trials.
As Patient No. 1, Ms. Nizar is currently undergoing weekly treatments. The study will expand to include children if the drug proves effective, potentially halting the disease's progression and offering hope for a transformative treatment.
