Breaking News
February 19, 2019 - Scientists untangle how microbes manufacture key antibiotic compound
February 19, 2019 - Greater primary care physician supply associated with longer life spans
February 19, 2019 - HIV-1 protein suppresses immune response more broadly than thought
February 19, 2019 - For 2020 Dem Hopefuls, ‘Medicare-For-All’ Is A Defining Issue, However They Define It
February 19, 2019 - KU professor discusses promise of brain-computer interface to aid, restore communication
February 19, 2019 - Early marker of cardiac damage triggered by cancer treatment identified
February 19, 2019 - Antidepressant drug could save people from deadly sepsis, research suggests
February 19, 2019 - CRISPR technology creates pluripotent stem cells that are ‘invisible’ to the immune system
February 19, 2019 - Midlife Systemic Inflammation Linked to Later Cognitive Decline
February 19, 2019 - Therapy derived from parasitic worms downregulates proinflammatory pathways
February 19, 2019 - Antimicrobial reusable coffee cups are less likely to become contaminated with bacteria, study shows
February 19, 2019 - Harnessing the evolutionary games played by cancer cells to advance therapies
February 19, 2019 - AHA News: Heart Transplant Survivor Gets Wedding Proposal at Finish Line
February 19, 2019 - HIV hidden in patients’ cells can now be accurately measured
February 19, 2019 - Research finds reasons for sudden cardiac death in patients with stable ischemic disease
February 19, 2019 - New protocol could help physicians to rule out bacterial infections in infants
February 19, 2019 - Women experiencing miscarriage should be offered treatment choices
February 19, 2019 - New protocol can help identify febrile infants at low risk for serious bacterial infections
February 19, 2019 - Innovative way to block HIV runs into a roadblock
February 19, 2019 - Springer Nature with BCRF conduct pilot project to make their research datasets more accessible
February 19, 2019 - Study finds neuromelanin-sensitive MRI as potential biomarker for psychosis
February 19, 2019 - Improvements in cardiovascular care for elderly save billions in health care costs
February 19, 2019 - Chilean food regulations are changing food perceptions and purchasing habits, study suggests
February 19, 2019 - Index endoscopy results are crucial for assessment of Barrett’s patients
February 18, 2019 - Breast cancer screening age should be lowered to 35
February 18, 2019 - Brain synchronization depends on the language of communication
February 18, 2019 - Drug Company Payments Over Time May Influence Rx Practices
February 18, 2019 - Despite socioeconomic gains, black-white ‘health gap’ remains
February 18, 2019 - Researchers report progress in the treatment of aggressive brain tumors
February 18, 2019 - Scientists discover trigger that turns strep infections into devastating disease
February 18, 2019 - Scanning children’s teeth may predict future mental health issues
February 18, 2019 - Health Highlights: Feb. 14, 2019
February 18, 2019 - New knowledge could help predict and prevent depression
February 18, 2019 - More primary care physicians leads to longer life spans | News Center
February 18, 2019 - Study examines link between supply of primary care physicians and life expectancy
February 18, 2019 - New study assesses screen time in young children
February 18, 2019 - Patented IU discovery to treat ARDS has been optioned to Theratome Bio
February 18, 2019 - Software found to be four times better at monitoring ovarian cancer
February 18, 2019 - Male Y chromosomes not ‘genetic wastelands’
February 18, 2019 - Hormone therapy during gender transition may increase risk for cardiovascular events
February 18, 2019 - NICE renews accreditation for Advanced
February 18, 2019 - FDA Grants Orphan Drug Designation to Amplyx Pharmaceuticals for APX001 for Treatment of Cryptococcosis
February 18, 2019 - Molecule effective in killing tuberculosis bacteria
February 18, 2019 - Columbia researchers unravel why some glioblastomas respond to immunotherapy
February 18, 2019 - Men who are able to do ten push-ups are less likely to have a stroke
February 18, 2019 - Blood-brain barrier disruption could lead to age-related cognitive decline
February 18, 2019 - Combination of PARP inhibitor and immunotherapy results in tumor regression in SCLC mouse models
February 18, 2019 - Heavy smoking could lead to vision loss, study finds
February 18, 2019 - New diagnostic test for malaria uses spit, not blood
February 18, 2019 - New therapeutic molecules show promise in reversing memory loss related to depression, aging
February 18, 2019 - Darla Shine joins anti-vaccination campaigners
February 18, 2019 - New study outlines sex-specific issues in ischemic heart disease
February 18, 2019 - Drug combinations could become first-line treatment for metastatic kidney cancer
February 18, 2019 - Lifetime adversity, increased neural processing during trauma combine to intensify core PTSD symptoms
February 18, 2019 - HRQoL Scores Decrease With Treatment Line in Multiple Myeloma
February 18, 2019 - Convincing evidence that type 2 diabetes is a cause of erectile dysfunction
February 18, 2019 - Study offers implications of advanced age in evaluation, management of ischemic heart disease
February 18, 2019 - Children from homes with flame-retardant sofa have high SVOC concentration in their blood
February 18, 2019 - Art Institute of Chicago announces results of research on five terracotta sculptures
February 18, 2019 - New PET/CT tracer shows high detection rate for diagnosis of acute venous thromboembolism
February 18, 2019 - Smoking may blight immune response against melanoma and reduce survival
February 18, 2019 - How Inactivity and Junk Food Can Harm Your Brain
February 18, 2019 - Diabetes tops common conditions for frequent geriatric emergency patients
February 18, 2019 - Longer-lived sperm produces offspring with healthier lifespans
February 18, 2019 - New dental adhesive prevents tooth decay around orthodontic brackets
February 18, 2019 - New eHealth tool shows potential to improve quality of asthma care
February 18, 2019 - New Australian initiative helps emergency clinicians to improve patient care
February 17, 2019 - Apellis Pharmaceuticals’ APL-2 Receives Fast Track Designation from the FDA for the Treatment of Patients with Paroxysmal Nocturnal Hemoglobinuria
February 17, 2019 - Researchers identify faulty ‘brake’ that interferes with heart muscle’s ability to contract and relax
February 17, 2019 - Support from trusted adults can reduce risk of dying in suicidal teens, finds study
February 17, 2019 - Heart attack awareness improved since 2008
February 17, 2019 - Exercise gives a better brain boost to older men than women
February 17, 2019 - New research disproves previous assumptions of how looks influence personality
February 17, 2019 - Cannabis use as a teenager linked to depression later in life
February 17, 2019 - Sinks by Toilets in ICU Patient Rooms Harbor Harmful Bacteria
February 17, 2019 - Cancer cells’ plasticity makes them harder to stop
February 17, 2019 - Young cannabis users have increased risk of depression and suicidal behavior
February 17, 2019 - Tasmanian Devils Likely to Survive Cancer Scourge
February 17, 2019 - Neoadjuvant PD-1 blockade seems effective in glioblastoma
February 17, 2019 - Personal, social factors play role in enabling sustainable return to work after ill health
First U.S. patient treated with innovative gene therapy at Bascom Palmer Eye Institute

First U.S. patient treated with innovative gene therapy at Bascom Palmer Eye Institute

image_pdfDownload PDFimage_print

A Puerto Rican patient with X-linked retinitis pigmentosa (XLRP) is hoping to save his vision after an innovative gene therapy procedure at Bascom Palmer Eye Institute at the University of Miami Miller School of Medicine. On August 23, Julio Adorno Nieves, 23, became the first U.S. patient to be given new genes for his inherited blinding condition in a worldwide Nightstar Therapeutics clinical trial.

“My vision has been getting worse over time, and I’ve had a lot of difficulty seeing at night,” said Nieves at a checkup one week after his surgery. “I’m still in recovery, but am hoping to see a change soon, thanks to Bascom Palmer’s fantastic professional team.” Bascom Palmer has an extensive gene therapy program with ophthalmologists, surgeons, genetic counselors and research scientists studying various forms of inherited eye diseases.

Byron Lam, M.D., professor of ophthalmology and holder of the Robert Z. & Nancy J. Greene Chair in Ophthalmology, said XLRP is most commonly caused by a mutation on the RPGR gene on the X-chromosome that causes blindness in about one in 15,000 men. Because women have two X chromosomes, they are usually less affected, although they can pass the mutation to their children.

“Introducing a functional copy of the RPGR gene using an engineered viral vector can correct the underlying cause and induce a long-lasting therapeutic effect,” added Lam, who is the principal investigator in the phase 1/II Nightstar clinical trial focusing on the safety and dosage of the treatment.

Janet L. Davis, M.D., professor of ophthalmology and holder of the Leach Chair in ophthalmology, and Ninel Gregori, M.D., associate professor of clinical ophthalmology, delivered the new genes to Nieves’ left eye in a 99-minute procedure that was observed by Robert MacLaren, M.D., a professor of ophthalmology at the University of Oxford in the United Kingdom who developed the gene replacement therapy. “Julio’s surgery went very well, and we were able to cover the entire central area of the retina where he still had some limited vision,” Davis said.

Noting that Nieves was the 16th patient worldwide to participate in the Nightstar trial, Gregori said, “We put a lot of planning into this ground-breaking surgery and are proud that Bascom Palmer Eye Institute was the first U.S. site for this clinical trial. Our patient and his family were waiting for this for many years!”

The patient’s parents, Santa Nieves and Jorge Adorno Giusti, both pharmacists from Bayamon, Puerto Rico, are hoping the experimental treatment will also help their other two sons, Jorge, 25, and Juan, 21, who also have XLRP.

“About 30 members of my family have this genetic disorder and many of the men are legally blind,” said Santa Nieves. “Before we decided to have children, I consulted with several specialists and had genetic testing done. They assured me at that time that I was not a carrier of the disease, so I expected to have healthy children.”

But when Santa Nieves’ children started walking, she noticed they were bumping into the edges of doors, an early symptom of the loss of peripheral vision due to retinitis pigmentosa (RP). “But they were not diagnosed with RP until 2002 when they were 7, 9 and 11 years old,” she said. “They told us they were destined to lose their sight irreparably.”

A doctor in Bayamon urged Santa Nieves to contact Bascom Palmer, which has deep ties to Puerto Rico’s ophthalmology community. Jose A. Berrocal, M.D., the first fellow to train at Bascom Palmer in 1964, became the island’s first retina specialist. His daughter Maria Berrocal, M.D., joined him in private practice, while Audina Berrocal, M.D. joined the Bascom Palmer faculty and is now professor of clinical ophthalmology.

Responding to Santa Nieves’ request, Audina Berrocal tested Santa Nieves’ sons, determined they had XLRP and referred the family to Lam for genetic testing. In 2003, Lam and Berrocal led a Bascom Palmer medical team that tested more than 100 members of Santa Nieves’ family in Puerto Rico. “We used my sister’s and dad’s office to examine as many of the family members as we could,” said Berrocal. “It was an amazing collaborative project.”

Through the years, the Bascom Palmer physicians stayed in close touch with the family, and when Lam was asked to participate in the Nightstar gene therapy trial, he thought immediately of the Nieves family. “With gene therapy, some patients will have their central vision improve, while others may not,” Lam said. “Hopefully as Julio’s central vision improves, his night vision will get better as well.”

Meanwhile, Julio Nieves, now a computer scientist, urges other men with XLRP to keep learning about the disease and seek out new treatments. “I hope that my two brothers can also be treated,” he said.

To help raise awareness, Santa Nieves established the Retinitis Pigmentosa Foundation of Puerto Rico, a non-profit Puerto Rico organization to educate families, provide support to patients and inform them about the latest advances. With guidance from Bascom Palmer, the foundation plans to create a central database for RP patients on the island.

After Julio’s surgery, Santa Nieves expressed her “unconditional thanks” to Lam and the entire Bascom Palmer team. “After 15 years of waiting, my dream has come true,” she said. “Miracles happen and great people make them possible!”

Source:

http://med.miami.edu/news/first-u.s.-patient-treated-with-nightstar-gene-therapy-for-x-linked-retinit

Tagged with:

About author

Related Articles