Key Takeaway:
- Neena Nizar became the first patient in an NIH clinical trial testing an experimental treatment for Jansen’s disease, which affects about 30 people worldwide.
- The treatment could help children: Researchers hope the peptide can prevent severe bone damage if given early.
- Nizar helped drive the trial: Her advocacy helped secure research attention, funding, and clinical testing for the ultra-rare disorder.
Neena Nizar became the first participant in an NIH clinical trial for Jansen’s disease, testing an experimental peptide that could protect children from the rare genetic disorder.
Nizar pushes rare disease treatment forward
Nizar, 48, spent 10 weeks this summer at the National Institutes of Health as the sole participant in the early-stage trial. She received weekly treatments for Jansen’s disease, which affects about 30 people worldwide.
Nizar was born with severely abnormal bone growth. She is 3 feet 9 inches tall, uses a wheelchair, and lives with constant pain. Her condition has also affected her two sons, who were diagnosed after developing similar bone deformities.
The experimental treatment is not expected to reverse the permanent damage to Nizar’s bones. Researchers instead hope it can prevent or limit the disease’s effects in children who receive treatment earlier.
Dr. Alison Boyce, the study’s principal investigator, said that if the treatment succeeds, “it will be transformative in Jansen’s.”
Doctors trace the disease to a genetic mutation
Nizar spent decades seeking an explanation for her condition. Doctors in England and the United States performed numerous surgeries in attempts to correct her bones, but the cause remained unknown.
In 2010, Dr. Sheela Nampoothiri, a pediatric geneticist in Kerala, identified Jansen’s disease from Nizar’s symptoms and X-rays. Genetic testing later confirmed that Nizar and both sons carried mutations in the PTH1R gene, which helps regulate bone growth and calcium levels.
The genetic mutation had been identified years earlier by Dr. Harald Jueppner, a pediatric nephrologist at Massachusetts General Hospital. Research by Dr. Thomas J. Gardella subsequently identified a peptide capable of switching off the abnormal activity caused by the mutation.
Laboratory and animal studies suggested the peptide could correct effects associated with Jansen’s disease. But moving from laboratory research to a human clinical trial required funding, manufacturing, and a facility capable of conducting human studies.
Dr. Matthew Porteus, president of the American Society for Cell and Gene Therapy, said rare diseases face major development obstacles because potential treatments can involve millions of dollars in costs while serving very few patients.
“The science is there,” Porteus said. “You shouldn’t have to be a force of nature to get this going.”
Trial could expand to children
Nizar helped bring attention to the research by attending the NIH’s Rare Disease Day and presenting information about her family. She later worked with NIH researchers to explore whether its National Center for Advancing Translational Sciences could help develop the treatment.
The trial will continue to evaluate how the peptide affects Nizar’s parathyroid hormone levels. She is expected to return to the NIH in September for additional testing and dose evaluation.
Once researchers determine an appropriate dose, the study is expected to expand to children with Jansen’s disease. Researchers hope early treatment could prevent the severe skeletal damage experienced by Nizar.
Dr. Gardella called Nizar “a driving force” behind the study and said the disease is “profoundly devastating.”
Nizar said her experience should offer hope to people facing diagnoses for which few treatments exist.
“So many times we’re given the diagnosis, and we’re saying ‘nothing can be done,’” she said. “And that’s just not true.”
