Breaking News
April 24, 2019 - Study finds involuntary staying in housing estates to be a potential health risk
April 24, 2019 - Older kidney disease patients starting dialysis die at higher rates than previously thought
April 24, 2019 - Time-restricted eating shows promise for controlling blood glucose levels
April 24, 2019 - Research provides important insight on the brain-body connection
April 24, 2019 - In 10 Years, Half Of Middle-Income Elders Won’t Be Able To Afford Housing, Medical Care
April 24, 2019 - Researchers study how E. coli clones have become major cause of drug-resistant infections
April 24, 2019 - Bacterial and fungal toxins found in popular electronic cigarettes
April 24, 2019 - Texting helps improve medication adherence, health outcomes for patients with schizophrenia
April 24, 2019 - Cochrane Review looks at different ways to use nicotine replacement therapies
April 24, 2019 - New review on relationship between COPD and Type 2 diabetes
April 24, 2019 - Brain areas linked to memory and emotion aid odor navigation in humans
April 24, 2019 - Brain stimulation reverses age-related memory loss
April 24, 2019 - Amid Opioid Prescriber Crackdown, Health Officials Reach Out To Pain Patients
April 24, 2019 - $4 million NIH award will help establish UCI Skin Biology Resource-based Center
April 24, 2019 - Cancer drugs reprogram genes in breast tumors to prevent endocrine resistance, finds study
April 24, 2019 - Combination-imaging technique provides new window into macaque brain connections
April 24, 2019 - Researchers identify new allergen responsible for allergy to durum wheat
April 24, 2019 - Researchers define role of rare, influential cells in the bone marrow
April 24, 2019 - DNA rearrangement may predict poor outcomes in multiple myeloma
April 24, 2019 - FDA Approves Skyrizi (risankizumab-rzaa) for Moderate to Severe Plaque Psoriasis
April 24, 2019 - Combination therapy might be beneficial in schizophrenia
April 24, 2019 - Blood test can help match cancer patients to early phase clinical trials
April 24, 2019 - Women tend to underreport snoring and underestimate its loudness
April 24, 2019 - Comprehensive molecular test introduced for diagnosis of malaria caused by P. vivax parasites
April 24, 2019 - New range prediction approach increases accuracy, safety and tolerability of proton therapy
April 24, 2019 - Need for Sedation Up for Regular Cannabis Users
April 24, 2019 - Lack of access to antibiotics is a major global health challenge
April 24, 2019 - New study provides better understanding on safety of deworming programs
April 24, 2019 - EEG used to detect impact of maternal stress on neurodevelopment in 2-month-old infants
April 24, 2019 - FDA Approves First Generic Naloxone Nasal Spray Against Opioid Overdose
April 24, 2019 - A new way of finding compounds that prevent aging
April 24, 2019 - Mechanical training makes synthetic hydrogels perform more like muscle
April 24, 2019 - Study provides new insights into regulatory T cells’ role in protecting against autoimmune disease
April 24, 2019 - Pregnant women with type 1 diabetes are at greater risk of preterm birth
April 24, 2019 - ‘Tummy tuck’ can be safely performed in obese patients with no increase in complications
April 23, 2019 - ‘First’ 3-D print of heart with human tissue, vessels unveiled
April 23, 2019 - Which blood-based method works best to detect TB?
April 23, 2019 - Gene therapy cures infants suffering from ‘bubble boy’ immune disease
April 23, 2019 - Chemical-sampling wristbands detect similar exposures across three continents
April 23, 2019 - Management of Residual Limb Pain
April 23, 2019 - Molecular clock influences immune cell responses
April 23, 2019 - On the importance of culture, partnerships and diversity at the Dean’s Lecture Series
April 23, 2019 - Siddhartha Mukherjee Receives Lewis Thomas Prize for Writing About Science
April 23, 2019 - Dengue mosquito poses greatest danger of spreading Zika virus in Australia
April 23, 2019 - Scientists identify 104 high-risk genes for schizophrenia
April 23, 2019 - Abdominal etching can help patients to get classic ‘six-pack abs’ physique
April 23, 2019 - Alvogen Inc. Issues Voluntary Nationwide Recall of Fentanyl Transdermal System Due to Product Mislabeling
April 23, 2019 - Skype hypnotherapy is effective treatment for IBS
April 23, 2019 - The future hope of “flash” radiation cancer therapy
April 23, 2019 - Bicycling, Recycling, and Beyond: Public Safety to Host Shred Fest and Bike-to-Campus Day 
April 23, 2019 - Skipping breakfast linked with increased risk of death from heart disease
April 23, 2019 - Neuroscientists propose new theory about amyloid precursor protein connection in Alzheimer’s
April 23, 2019 - Mediterranean diet protects against overeating and obesity
April 23, 2019 - NUS scientists uncover novel biomarkers linked with ‘chemobrain’
April 23, 2019 - Novel ECCITE-seq technique expands multimodal single cell analysis
April 23, 2019 - Half of all American workplaces offer health and wellness programs
April 23, 2019 - Hypnosis may offer a genuine alternative to painkillers
April 23, 2019 - Sleep loss greatly interferes with job performance
April 23, 2019 - Study shows how elderberry fruit can help fight against influenza
April 23, 2019 - Parkinson’s sufferers regain mobility with new implant
April 23, 2019 - Perinatal Complications Tied to Childhood Social Anxiety
April 23, 2019 - Research reveals how immune cells help tumors escape body’s defenses
April 23, 2019 - UAB receives $17 million grant to explore immune cells in inaccessible tissues of the human body
April 23, 2019 - Opening blocked arteries may be lifesaver for older heart attack patients
April 23, 2019 - Yposkesi chairman to speak on ‘Manufacturing and the CDMO Perspective’ at Cell and Gene Meeting
April 23, 2019 - Listeria Outbreak Linked to Deli Meats, Cheeses in 4 States
April 23, 2019 - Scientists find another way HIV can hide from vaccines
April 23, 2019 - Improved WIC food packages reduced obesity risk for children, study finds
April 23, 2019 - EU ban on ‘meaty’ names for veggie food products would affect public sector
April 23, 2019 - KNAUER self-tests gender pay gap one month after Equal Pay Day
April 23, 2019 - Johns Hopkins study reports overdiagnosis of schizophrenia
April 23, 2019 - New approach to repair defects in fetal membranes could prevent life-long medical conditions
April 23, 2019 - Reviving the heart’s regenerative capacities using microRNAs
April 23, 2019 - New pediatric blood pressure guidelines can better predict kids at higher risk of heart disease
April 23, 2019 - Second HIV remission patient rekindles cure hope
April 23, 2019 - Sparse Treatment Options Complicate Cancer Care For Immigrants In South Texas
April 23, 2019 - Hole-forming protein could help control cancer growth
April 23, 2019 - Study examines factors associated with low use of hearing aids among older Hispanic/Latino adults
April 23, 2019 - Changes to Medicare rules could support care innovation for dialysis
April 23, 2019 - Cancer patients requiring emergency department care have better outcomes at original hospital
Injection improves vision in a form of childhood blindness

Injection improves vision in a form of childhood blindness

image_pdfDownload PDFimage_print
Injection improves vision in a form of childhood blindness
QR-110 Mechanism of Action: In wild-type cells, splicing results in correct transcripts and therefore normal functional protein. In cells carrying the p.Cys998X mutation a cryptic splice site is also recognized. Thus two types of transcripts are produced: a mutant transcript, and a wild-type transcript. When QR-110 is present, the recognition of the cryptic splice site is blocked, and the production of wild-type transcripts is favored. Credit: Perelman School of Medicine at the University of Pennsylvania

A new treatment for patients with a form of congenital retinal blindness has shown success in improving vision, according to results published today in Nature Medicine led by researchers at the Scheie Eye Institute in the Perelman School of Medicine at the University of Pennsylvania.

The treatment was designed for patients with CEP290 mutations and a diagnosis of Leber congenital amaurosis (LCA). CEP290 acts as a gate between two compartments of photoreceptor cells—a type of sensory neuron in the retina that converts light into signals that provide vision. Primary photoreceptor blindnesses—such as those caused by CEP290 mutations—are the most common form of LCA and they are currently not treatable.

In this clinical study at sites in the United States and Europe, participants received an intraocular injection of an oligonucleotide—a short RNA molecule—created to reduce the mutant CEP290 protein levels in the photoreceptors and restore retinal function.

“It was very dramatic to see one of the patients improve from only being able to differentiate light or dark to reading many letters on an eye chart at two months following the first injection,” said lead author Artur V. Cideciyan, Ph.D., a research professor of Ophthalmology. “So, we performed a thorough interim analysis of all results from all patients.”

Ten patients received at least one injection into their worst-seeing eye. At three months after the first injection, half of the patients showed improvements in visual acuity, measured by the ability to either read letters, or distinguish direction of black and white bars.

The most basic functions of photoreceptors are to receive and then signal light. This aspect of vision was tested in patients by presenting flashes of light in the dark and measuring the dimmest flash intensity detected. Treated eyes could detect on average more than six-fold dimmer lights three months after the injections compared to before. The results were highly statistically significant. Evaluations with two colors of flashes suggested that it was the cone photoreceptors used for daytime vision that were improving with the treatment.

“This therapy to repair the genetic defect in LCA10 is a breakthrough in treatment strategy and will open the door for clinical trials in other patients with this condition and other similar conditions that are currently untreatable,” said Samuel G. Jacobson, MD, Ph.D., a professor of ophthalmology and co-lead author of the study.

All patients enrolled so far into the study had two different CEP290 mutations. The p.Cys998X mutation causing a splicing defect was common in all patients and was specifically targeted by the oligonucleotide.

“We performed an extreme form of personalized medicine where we targeted not just a specific gene but a specific mutation in a gene,” said Cideciyan. “It is gratifying to see clinical evidence supporting the action of this oligo predicted from basic science. In the future, we hope to evaluate patients carrying two identical splicing mutations to determine whether the efficacy of the injection might be even greater.”

The authors note that the clinical trial is ongoing to measure safety and efficacy of the injections long-term and the effects of further doses.


Rescuing human light-sensors in a common form of Leber congenital amaurosis


More information:
Artur V. Cideciyan et al, Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect, Nature Medicine (2018). DOI: 10.1038/s41591-018-0295-0


Provided by
Perelman School of Medicine at the University of Pennsylvania

Citation:
Injection improves vision in a form of childhood blindness (2018, December 17)
retrieved 20 January 2019
from https://medicalxpress.com/news/2018-12-vision-childhood.html

This document is subject to copyright. Apart from any fair dealing for the purpose of private study or research, no
part may be reproduced without the written permission. The content is provided for information purposes only.

Tagged with:

About author

Related Articles