Posts by: Patricia Inacio, PhD

Patricia Inacio, PhD

Patricia holds a Ph.D. in Cell Biology from University Nova de Lisboa, and has served as an author on several research projects and fellowships, as well as major grant applications for European Agencies. She has also served as a PhD student research assistant at the Department of Microbiology & Immunology, Columbia University, New York.

March 12, 2020March 12, 2020

Pediatric Rare Disease Therapies Increase, But Most Repurposed, Study Finds

News

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still ... Read more

March 5, 2020March 5, 2020

Exenatide Therapy Increases Key Frataxin Protein Levels, Study Finds

News

Exenatide, a drug that mimics the effects of the gut hormone GLP-1, increased the levels of frataxin — a protein involved in iron metabolism, whose deficiency leads to Friedreich’s ataxia ... Read more

January 9, 2020January 9, 2020

Natural DNA-Replication Mechanism May Help Fix Genetic Defect in FA, Study Suggests

News

A natural genetic mechanism may help reverse the genetic defect within the FXN gene — excessive repeats of a portion of DNA, called GAA triplets — that underlie Friedreich’s ataxia (FA), ... Read more

December 19, 2019December 19, 2019

Phase 1 Trial Testing Chondrial’s Potential FA Therapy, CTI-1601, Starts Dosing Patients

News

A Phase 1 trial evaluating Chondrial Therapeutic’s investigational therapy CTI-1601 as a treatment for Friedreich’s ataxia patients has started dosing patients. The therapy was recently granted rare pediatric disease ... Read more

December 5, 2019January 15, 2020

Seelos Therapeutics Gets US Patent Protection Covering Investigational SLS-005 for Neurodegenerative Diseases

News

Seelos Therapeutics received a Notice of Allowance from the U.S. Patent and Trademark Office (USPTO) covering the parenteral, or non-oral administration of SLS-005 (trehalose) for the treatment of neurodegenerative diseases characterized by abnormal ... Read more

September 5, 2019September 18, 2019

Friedreich’s Ataxia Can Emerge After Age 50, Case Study Shows

News

Friedreich’s ataxia can occur as a late-onset disease, with symptoms appearing after age 50, a case-report shows. Late-onset cases lack the typical symptoms and disease progresses slowly, highlighting the ... Read more

July 11, 2019August 9, 2019

Seelos Therapeutics’ Investigational Therapy for FA Gets US Patent Protection

News

Seelos Therapeutics received a Notice of Allowance from the United States Patent and Trademark Office covering the use of SLS-005 (trehalose) for the treatment of Friedreich’s ataxia. A Notice of ... Read more

April 18, 2019June 28, 2019

Oral Glucose Tolerance Test Better at Diagnosing Friedreich Ataxia-Associated Diabetes, Study Suggests

News

The oral glucose tolerance test showed higher sensitivity, compared with other diagnostic tools, and was able to detect up to three times more metabolic abnormalities in Friedreich ataxia patients, who ... Read more

April 4, 2019June 3, 2019

StrideBio, Takeda Pair to Develop New Gene Therapies for Friedreich’s Ataxia

News

Takeda and StrideBio have established a collaboration to develop new, more effective adeno-associated viruses (AAV) to be used as vehicles for in vivo delivery of gene therapies for Friedreich’s ... Read more

August 16, 2018August 16, 2018

Eye Movement and Skeletal Abnormalities Common in Friedreich’s Ataxia Patients, Registry Study Finds

News

A large, European registry study shows that Friedreich’s ataxia patients have a considerable spectrum of clinical symptoms that go beyond the typical neurological ataxia. Common non-neurologic clinical symptoms identified ... Read more

July 10, 2018July 10, 2018

Database of Small RNAs in FA Patients May Help Identify New Biomarkers, Researchers Say

News

A group of researchers compiled a database of small RNAs that circulate in the blood of Friedreich’s ataxia (FA) patients with different disease symptoms. Researchers hope this resource will ... Read more

May 31, 2018May 31, 2018

Too-high Levels of Frataxin in FA Can Cause Cellular Stress and Toxicity, Researchers Say

News

As therapies for Friedreich’s ataxia seek to increase the amount of frataxin, whose shortage underlies the disease, scientists conducting an in vitro study warn that levels of the protein ... Read more

May 8, 2018May 8, 2018

Methylene Blue Analogues Improved Mitochondrial Function and Increased Frataxin Levels in Cell Study

News

Compounds similar to the chemical methylene blue, which has been shown to have therapeutic benefits in several diseases, were seen to increase frataxin levels and the production of mitochondria ... Read more

April 19, 2018April 19, 2018

Retrotope Submits Design of Pivotal Trial for Its Friedreich’s Ataxia Therapy to FDA

News

Retrotope has submitted the design of a pivotal clinical trial for its Friedreich’s ataxia therapy RT001 to the U.S. Food and Drug Administration. The submission was prompted by results of a Phase 1/2 trial showing that ... Read more

April 10, 2018April 10, 2018

Investigational Friedreich’s Ataxia Therapy RT001 Found to Be Safe, Well-Tolerated in Early Trial

News

Results from a Phase 1/2 clinical study support the safety and tolerability of RT001, an investigational therapy for Friedreich’s ataxia. Patients treated with RT001 also were seen to improve ... Read more

April 5, 2018April 5, 2018

Mobility Devices Linked to Worse Quality of Life in Pediatric FA Patients, Study Suggests

News

Researchers found that the use of mobility devices is associated with a poorer quality of life in children with Friedreich’s ataxia (FA). The study, “Impact of Mobility Device Use ... Read more

March 1, 2018

EURORDIS, Shire, Microsoft Form Global Commission to End Delayed Diagnoses in Rare Diseases

News

EURORDIS-Rare Diseases Europe teamed up with biotech Shire and software giant Microsoft to establish the Global Commission to End the Diagnostic Odyssey for Children to tackle and end the delay ... Read more

November 30, 2017March 12, 2019

6-Week Rehab Program Improves Overall Health of FA Patients, Small Trial Shows

News

Australian researchers say a short-term rehabilitation program improved the health and well-being of a small group of patients with Friedreich’s ataxia (FA). The study, “Can rehabilitation improve the health ... Read more

September 30, 2017September 30, 2017

#IARC2017 – Small Molecules Mimicking Brain Factors Raise Frataxin Protein Levels in FA Mice in Study

News

Administering small molecules that mimic factors naturally found in the brain to a mouse model of Friedreich’s ataxia increased levels of frataxin expression in both the brain and heart — two organs ... Read more

September 30, 2017September 29, 2017

#IARC2017 – Protein-producing Frataxin Gene Delivered to Brain, Heart of Primates in Gene Therapy Study

Friedreich's Ataxia, News

New viral vectors were found to effectively transfer a normal and protein-producing frataxin gene into major tissues affected by Friedreich’s ataxia — including the brain and the heart — in non-human primates, a ... Read more

September 30, 2017September 29, 2017

#IARC2017 (Exclusive Interview) – Gene Therapy Seen to Reverse Sensory Ataxia in FA Mouse Model

Friedreich's Ataxia, News

Using a gene therapy strategy similar to one previously shown to reverse heart problems in a Friedreich’s ataxia mouse model, researchers also corrected sensory symptoms associated with the disease in another mouse ... Read more

September 30, 2017September 30, 2017

#IARC2017 – Omaveloxolone Can Aid Neurological Function in FA Patients, MOXIe Trial Shows

Friedreich's Ataxia, News

Omaveloxolone (RTA 408), an investigation medicine by Reata Pharmaceuticals, improves neurological function in people with Friedreich’s ataxia, according to results from part one of the MOXIe trial presented today at IARC 2017. David Lynch, a ... Read more

September 30, 2017September 30, 2017

#IARC2017 – Molecule Restores Cardiac Function in FA Mice if Mitochondrial Protein Present, Study Says

Friedreich's Ataxia, News

Giving mice who serve as a model of cardiac defects in Friedreich’s ataxia a molecule known to improve heart function in cardiac mice did help to improve how their hearts worked ... Read more

September 30, 2017September 29, 2017

#IARC2017 – Omega-3 Fatty Acid Supplement May Help Patients with SCA38

News

Patients with spinocerebellar ataxia 38 (SCA38) showed improved scores in two different scales — SARA (Scale for the Assessment and Rating of Ataxia) and ICARS (International Cooperative Ataxia Rating Scale) ... Read more

September 29, 2017September 29, 2017

#IARC2017 – At-home Speech Rehab Program Seen to Significantly Help Ataxia Patients

News

Ataxia patients who took part in a new, at-home program for speech impairment showed significant improvements in their ability both to speak more clearly and retain vocal control, results of a ... Read more

September 29, 2017September 29, 2017

#IARC2017 – Newly Potent Small Molecules Help Frataxin to Build Up in Cells, FA Study Finds

Friedreich's Ataxia, News

A new set of small molecules specifically targeting the ubiquitin degradation system inside cells was found to effectively increase frataxin protein levels in several cell types taken from Friedreich’s ataxia (FA) ... Read more

September 29, 2017September 29, 2017

#IARC2017 – GAA Repeats May Be Cause of Smaller Left Ventricle in Adults with FA

Friedreich's Ataxia, News

The degree of genetic defects in the frataxin gene appears to result in adults with Friedreich’s ataxia having a relatively smaller left ventricle in the heart, a study presented as a ... Read more

September 29, 2017September 29, 2017

#IARC2017 – Synthetic Molecules Seen to Restore Frataxin Protein Levels in Cells from FA Patients

Friedreich's Ataxia, News

Synthetic molecules were able to increase frataxin protein levels in cells taken from Friedreich’s ataxia patients to levels near those found in cells of healthy people, results of an early ... Read more

September 29, 2017September 29, 2017

#IARC2017 – Listening Device Helps SCA Patients Hear and Communicate Better in Small Study

News

Patients with different types of spinocerebellar ataxias showed significant improvement in their ability to hear and perceive complex sounds — essential to participating in everyday conversations — when wearing ... Read more

September 29, 2017September 29, 2017

#IARC2017 – Exercise Stress Tests Can Be Valid Part of FA Studies if Adaptive Equipment Used

Friedreich's Ataxia, News

Clinical trials to assess changes in the motor skills of Friedreich’s ataxia patients can and should include physical tests — specifically, the so-called exercise stress test performed on adaptive equipment, ... Read more

September 29, 2017September 29, 2017

#IARC2017 – Possible FA Biomarkers Seen in Early Sensory Damage Linked to Mutation’s Degree

Friedreich's Ataxia, News

Problems in the somatosensory (sensory nervous) and auditory systems of patients with Friedreich’s ataxia are potential biomarkers of early sensory damage, according to a small study. The research, “Cortical responses ... Read more

September 28, 2017September 28, 2017

#IARC2017 – Decline in Quality of Life Similar Among People with Most Common SCAs, EUROSCA Study Reports

News

Although clinical manifestations of their disease varies widely, patients with most common types of spinocerebellar ataxias (SCA) experience a similar decline in quality of life and daily activities, according to results ... Read more

September 28, 2017September 28, 2017

#IARC2017 (Exclusive Interview) – Walking Ability in FA Shows Decline Until Age 25, When It’s Lost, CCRN Reports

Friedreich's Ataxia, News

People with Friedreich’s ataxia lose the crucial capacity to move freely around age 25, according to a large and ongoing study by an international network of clinical centers devoted to research ... Read more

September 28, 2017September 28, 2017

#IARC2017 – EU Supporting Studies to Better Understand Natural History of SCAs

News

The European Union is supporting a number of  projects focused on the natural history of several spinocerebellar ataxias, projects that look at disease course over time — from onset to resolution — ... Read more

September 28, 2017September 28, 2017

#IARC2017 – Natural History of FA May Help Tailor More Effective Clinical Trials, EFACTS Suggests

Friedreich's Ataxia, News

The European Friedreich Ataxia Consortium for Translational Studies (EFACTS) group suggested specific outcome measures it found to be best suited to clinical trials testing possible treatments for Friedreich’s ataxia, and emphasized that ... Read more

September 28, 2017September 28, 2017

#IARC2017 – MicroRNA Delivered to Brain Seen to Ease Neurological and Motor Problems in Machado-Joseph Mouse Model

News

Delivery of a small RNA molecule (microRNA), called let-7, directly into the brain rescued motor impairments in a mouse model of Machado-Joseph disease, researchers at Center for Neuroscience and ... Read more

September 28, 2017September 28, 2017

#IARC2017 (Exclusive Interview) – Aerobic Exercise Seen to Slow FA Onset in Mice, May Have ‘Huge Impact’ on Disease

Friedreich's Ataxia, News

Regular and long-term aerobic exercise — in this case, running — slowed the start of Friedreich’s ataxia symptoms and prevented metabolic abnormalities in a mouse model of the disease, researchers report, calling their findings ... Read more

September 28, 2017September 28, 2017

#IARC2017 – Mitochondria, Deprived of Frataxin Protein, Fail to Control Free Radicals in Cells, FA Study Finds

Friedreich's Ataxia, News

In Friedreich’s ataxia, insufficient frataxin protein in cells impairs the ability of mitochondria  to control the production of harmful reactive oxygen species, which accumulates and ultimately triggers nerve cell death, research into ... Read more

September 28, 2017September 28, 2017

#IARC2017 – New Mouse Model of Friedreich’s Ataxia Shows Symptoms Similar to Patients

Friedreich's Ataxia, News

A new mouse model of Friedreich’s ataxia, detailed at IARC 2017, exhibits human features of the disease and has the potential to be of ” broad utility” in research into the underlying mechanisms of ... Read more

September 27, 2017September 27, 2017

#IARC2017 – Epigenetic ‘Off Switch’ May Be Reason Frataxin Levels Low in Cells of FA Patients

Friedreich's Ataxia, News

New research, presented at IARC 2017, showed that the frataxin gene in cells taken from Friedreich’s ataxia patients produces very little of the frataxin protein in part due to ... Read more

September 27, 2017September 27, 2017

#IARC2017 – Possible FA Treatment Seen in Blocking Protein Linked to Frataxin Degradation

Friedreich's Ataxia, News

A protein called RNF126 mediates the degradation of the frataxin protein in cells of people with Friedreich’s ataxia, a new study presented at IARC 2017 showed. Its researchers suggest that targeting this ... Read more

September 27, 2017September 27, 2017

#IARC2017 – New Genetic Variants May Explain Childhood-onset Ataxias, Finnish Study Suggests

Friedreich's Ataxia, News

A next-generation sequencing technique known as whole exome sequencing (WES) led to new genetic variants for childhood-onset ataxias being identified — including some in genes not previously linked to ataxia, and some ... Read more

September 27, 2017September 27, 2017

#IARC2017 – New Gene Sequencing Techniques May Lead to Faster Diagnosis, Better Therapies

Friedreich's Ataxia, News

Recent advances in next-generation sequencing techniques are helping to revolutionize genetic testing, potentially ending the “diagnostic odyssey” that ataxia patients can now go through, researchers in Germany said in the opening presentation of ... Read more

September 11, 2017September 11, 2017

#IARC2017 – The Science Behind Several New Strategies for Treating Friedreich’s Ataxia

Friedreich's Ataxia, News

Dozens of scientists from universities and pharmaceutical companies will come together at the 2nd International Ataxia Research Conference in Pisa, Italy, Sept. 27-30 to discuss new strategies for addressing the ... Read more

September 7, 2017September 7, 2017

Friedreich’s Ataxia Patients’ Meeting with FDA Captures Their Reality, Fears and Hopes

News

Missing 184 class periods in a year due to fatigue. Having someone tell the school principal you’re drunk because of your walking problems. Being belittled because of your slurred ... Read more

June 8, 2017

Brain May Alter Cerebral Functions to Compensate for Motor Deficits in Friedreich’s Ataxia

News

Researchers detected alterations in cerebral brain functions of patients with Friedreich’s ataxia and believe they may mitigate the impact of motor impairments of the disease. The study, “Cerebral compensation during motor function in Friedreich ataxia: ... Read more

May 16, 2017May 16, 2017

Ataxia-cause Patterns Emerge in Study but Researchers Unable to Establish Any in a Third of Cases

News

A group of brain diseases known as sporadic late-onset acute cerebellar ataxias have been attributed to lots of causes, so an American research team decided to study 80 patients to try ... Read more

May 4, 2017March 15, 2019

Stem Cell-secreted Molecules Restore Function to Human Friedreich’s Ataxia Cells

News

Molecules released by certain stem cells may promote an increase of frataxin protein and rescue cellular function, researchers have shown in a cell model of Friedreich’s ataxia. The study, “Mesenchymal ... Read more

April 20, 2017April 24, 2017

Low Levels of Friedreich’s Ataxia-linked Protein Don’t Impact Red Blood Cells, Study Suggests

News

Low levels of frataxin protein, the hallmark of Friedreich’s ataxia, do not seem to impact the function of red blood cells, particularly the formation of hemoglobin’s core molecule, heme, ... Read more

February 9, 2017

Liver Growth Factor Partially Restores Motor Coordination in Friedreich’s Ataxia Mice

News

Liver growth factor (LGF) increased the frataxin protein and reduced oxidative stress when administered to mice with Friedreich’s ataxia (FA). This approach leads to a partial restoration of motor ... Read more