disease

The Assistance Fund Opens New Program for Mucopolysaccharidosis Type 1 – MPS Disease

Financial Assistance from The Assistance Fund Now Available for Eligible People Living with Mucopolysaccharidosis Type 1
Press Release – updated: Jan 21, 2020 13:00 EST

ORLANDO, Fla., January 21, 2020 (Newswire.com) – The Assistance Fund (TAF), an independent, charitable patient assistance foundation that helps patients and families facing high medical out-of-pocket costs, today announced the launch of a new financial assistance program for people living with mucopolysaccharidosis type 1 (MPS 1). The program is designed to help eligible individuals pay for their out-of-pocket medical expenses resulting from the condition.
MPS 1 is a rare lysosomal disease affecting multiple parts of the body. The lack of a specific enzyme leads to a growth of glycosaminoglycans and growth in the size in lysosomes, causing an enlargement in tissues and organs. MPS 1 includes Hurler syndrome, Scheie syndrome and Hurler-Scheie syndrome, each differing in their severity. MPS 1 typically begins six months after birth, affecting one out of every 500,000 newborns.[1] ​
“While the search for a cure continues, TAF’s new Mucopolysaccharidosis Type 1 Financial Assistance Program aims to eliminate the burden of out-of-pocket costs for families dealing with an MPS 1 diagnosis so they can focus on managing their treatment,” said Mark McGreevy, President and CEO of The Assistance Fund.
“Individuals with MPS 1 face a lifetime of medical interventions to improve their quality of life and slow the progression of the disease,” said Terri Klein, President and CEO at the National MPS Society. “Treatment is vital to help prevent irreversible organ and tissue damage, but the high costs associated with care can make it out of reach for many families. With support from The Assistance Fund, more patients with MPS 1 will undergo the treatment regimens that can best preserve their health. We are grateful for organizations like the Assistance Fund who are willing to help with the heavy financial burden felt by our patients.”
To learn more or determine eligibility for financial support, visit tafcares.org or call (855) 267-2054 to speak with a Patient Advocate.
A list of all the programs available from The Assistance Fund is available at tafcares.org.
About The Assistance Fund
The Assistance Fund is an independent, charitable patient assistance foundation that helps patients and families facing high medical out-of-pocket costs by providing financial assistance for their copayments, coinsurance, deductibles and other health-related expenses. The Assistance Fund currently manages more than 60 programs – each of which covers the FDA-approved medications that treat a specific disease. Since its founding in 2009, The Assistance Fund has helped more than 78,000 adults and children access the medicines they need to stay healthy or manage a chronic condition. To learn more about The Assistance Fund, or for information on how to donate, please visit tafcares.org.
Media Contact
Margaret Figley
Director of Communications
margaret.figley@tafcares.org

Source: The Assistance Fund

Global Team Enables Child With a Fatal Genetic Disease to Recover

NEW YORK (PRWEB) January 17, 2020
A young boy with a rare genetic disease that typically kills within weeks of birth is now 3 years old and in remission thanks to a collaborative effort that included physicians at King Saud University Department of Pediatrics in Riyadh, Saudi Arabia, and immunologists at the Icahn School of Medicine at Mount Sinai in New York.
A report published in The New England Journal of Medicine today describes how the global team combined exceptional supportive clinical therapy, genetic diagnosis and a novel immunotherapeutic drug known as a protein kinase inhibitor to bring the Saudi Arabian boy into full remission from his deadly disease, known as “USP18 deficiency” because it is caused by a mutation of the USP18 gene.
“The teamwork between our two institutions and others around the world is a textbook case of science without borders,” says Dusan Bogunovic, PhD, Associate Professor of Microbiology, and Pediatrics, at the Icahn School of Medicine at Mount Sinai and co-corresponding author of the study. “We showed that even with a disease like USP18 deficiency, sound clinical care and timely drug administration can rescue patients from what was previously considered a death sentence.”
USP18 (ubiquitin-specific peptidase 18) is a protein coding gene involved in immune system. It is important to regulate inflammation driven by a substance that our body normally secretes to fight off viruses, type 1 interferons. Mutations of USP18 result in an uncontrolled response to type 1 interferons, triggering IFN-I-mediated inflammation that’s lethal in utero or shortly after birth. JAK1 inhibitor drugs, like ruxolitinib, the protein kinase inhibitor given to the Saudi Arabian boy, take over the intended role of USP18, and thus have the potential for a prompt and sustained recovery by patients.
Dr. Bogunovic and his lab, widely known for their work in the field of rare inflammatory diseases in children, first described USP18 deficiency in 2016. The following year, physicians at King Saud University reached out to Mount Sinai via Paris Descartes University in France about a gravely ill young patient in their intensive care unit who appeared to have a variant of the USP18 gene. Thus began a clinical/research collaboration—which included Paris Descartes University as well as Rockefeller University in New York—in which scientists characterized in detail the molecular basis of the disease through a battery of whole exome sequencing, expression assays, protein analysis, and antibody detection. “After seeing a potential variation in the USP18 gene, we conducted a complete set of tests to determine what it meant in terms of protein function,” explains Marta Martin-Fernandez, PhD, a postdoctoral fellow at the Icahn School of Medicine and a first author of the published study, who performed many of its biochemical and genetic analyses. “Those findings confirmed for us that ruxolitinib was the appropriate treatment.”
The young patient, who had been kept alive for months through the extraordinary care of physicians led by Fahad Alsohime, MD, Assistant Professor at the College of Medicine, King Saud University, was promptly put on oral, twice-daily doses of ruxolitinib. The dosage was increased after insufficient changes were seen, and within two weeks his symptoms began to rapidly improve, allowing doctors to wean him from respiratory support. Subsequent CT and MRI imaging showed a resolution of hemorrhaging, ischemia, cellulitis of the right forearm, and hydrocephalus, a condition in which cerebrospinal fluid accumulates in the brain. After two years of follow-up in an outpatient clinic in Riyadh, and continued administration of the JAK1 inhibitor, the child remains free of clinical problems and has been given an encouraging prognosis by his physicians. He will likely have to take ruxolitinib for the rest of his life.
The success of this case has provided a further springboard for Mount Sinai scientists to investigate the genomics and molecular/cellular biology behind conditions less severe than the boy’s. This ongoing work links to other studies that have shown that JAK inhibitors—which were initially developed as anti-cancer drugs but proved to be largely ineffective—can improve symptoms and control disease activity in patients with other type 1 interferon abnormalities.
“We were able to demonstrate the benefits of rapid genetic diagnosis of an inherited disorder for which an immunosuppressant drug like ruxolitinib can provide effective and sustained treatment,” says Dr. Bogunovic of Mount Sinai, a senior author on the publication. “That kind of discovery and drug repurposing must continue to be pursued by the scientific community without interruption.”
About the Mount Sinai Health SystemThe Mount Sinai Health System is New York City’s largest integrated delivery system, encompassing eight hospitals, a leading medical school, and a vast network of ambulatory practices throughout the greater New York region. Mount Sinai’s vision is to produce the safest care, the highest quality, the highest satisfaction, the best access and the best value of any health system in the nation. The Health System includes approximately 7,480 primary and specialty care physicians; 11 joint-venture ambulatory surgery centers; more than 410 ambulatory practices throughout the five boroughs of New York City, Westchester, Long Island, and Florida; and 31 affiliated community health centers. The Icahn School of Medicine is one of three medical schools that have earned distinction by multiple indicators: ranked in the top 20 by U.S. News & World Report’s “Best Medical Schools”, aligned with a U.S. News & World Report’s “Honor Roll” Hospital, No. 12 in the nation for National Institutes of Health funding, and among the top 10 most innovative research institutions as ranked by the journal Nature in its Nature Innovation Index. This reflects a special level of excellence in education, clinical practice, and research. The Mount Sinai Hospital is ranked No. 14 on U.S. News & World Report’s “Honor Roll” of top U.S. hospitals; it is one of the nation’s top 20 hospitals in Cardiology/Heart Surgery, Diabetes/Endocrinology, Gastroenterology/GI Surgery, Geriatrics, Gynecology, Nephrology, Neurology/Neurosurgery, and Orthopedics in the 2019-2020 “Best Hospitals” issue. Mount Sinai’s Kravis Children’s Hospital also is ranked nationally in five out of ten pediatric specialties by U.S. News & World Report. The New York Eye and Ear Infirmary of Mount Sinai is ranked 12th nationally for Ophthalmology, Mount Sinai St. Luke’s and Mount Sinai West are ranked 23rd nationally for Nephrology and 25th for Diabetes/Endocrinology, and Mount Sinai South Nassau is ranked 35th nationally for Urology. Mount Sinai Beth Israel, Mount Sinai St. Luke’s, Mount Sinai West, and Mount Sinai South Nassau are ranked regionally.For more information, visit https://www.mountsinai.org or find Mount Sinai on Facebook, Twitter and YouTube.

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New Small Molecule to Treat Alzheimer's Disease and Dravet Syndrome

New study shows potentiating a subset of NMDA receptors may be beneficial in Alzheimer’s disease and Dravet syndrome.
Press Release – updated: Jan 14, 2020 12:57 PST

SAN FRANCISCO, January 14, 2020 (Newswire.com) – Gladstone researchers, in collaboration with Genentech, a member of the Roche group, have shown therapeutic efficacy of a new experimental drug in mouse models of Alzheimer’s disease and a rare genetic form of epilepsy known as Dravet syndrome. The small molecule increases the activity of a subset of neurotransmitter (NMDA) receptors that are found at synapses, the connection points between neurons. These receptors are known to support cognition and memory by enhancing communication between neurons. The new research shows that enhancing the activity of synaptic NMDA receptors helps restore the brain’s rhythms to normal patterns, and improves memory.
“Before now, we haven’t had ideal tools to enhance synaptic NMDA receptors,” said Gladstone Associate Investigator Jorge Palop, Ph.D., senior author of the study, which was published in the journal Cell Reports. “Now, the ability to specifically target these receptors opens up a lot of new possibilities for treating cognitive disorders.”
“This is the first time we’ve explored what this type of experimental drug does in animal models,” said Jesse Hanson, a scientist at Genentech and lead author of the new paper. “It was very gratifying to see an effect on both the brain’s electrical activity and the animals’ behavior.”
Abnormal activity of NMDA receptors has been long implicated in neuropsychiatric, epileptic, and neurodegenerative disorders. But previous compounds for altering NMDA receptor function worked by binding to all subtypes of NMDA receptors, and either completely blocked the receptors or put them in a permanently active state. Researchers have theorized that modulating the receptors only at active synapses may help diverse cognitive diseases by potentiating synaptic function and increasing neuronal communication.
In 2016, Genentech researchers first reported the development of a new class of experimental drugs that selectively bound to one subtype of NMDA receptors—those found only at the synapses. The new drug was also unique because rather than directly activating the receptors, it amplified the receptors’ signals primarily when engaged by neurotransmitters, the chemicals neurons use to communicate with each other.
“These compounds enhance naturally occurring activity at the synapses, rather than turning the receptors on all the time,” said Keran Ma, a staff scientist at Gladstone and a co-first author of the paper. “Thus, active synapses are potentiated in a more physiologically relevant way.”
Gladstone and Genentech researchers teamed up to test the effect of one of the new experimental drugs, GNE-0723, on mouse models of Alzheimer’s disease and Dravet syndrome. In the new paper, they report that GNE-0723 reduced a type of brain activity called low-frequency oscillations. These oscillations occur naturally even in healthy people, but are more prominent in Alzheimer’s disease and Dravet syndrome, and can be associated with epileptic brain activity, which can contribute to impaired cognition and memory loss. When the researchers treated mice simulating Alzheimer’s disease or Dravet syndrome with GNE-0723, low-frequency oscillations returned to levels seen in healthy control mice, and epileptic activity ceased.
“What we saw after the treatment were brain-wide changes in neural activity that shift the brain to a more active state that facilitates learning and memory,” said Palop, who is also an associate professor of neurology at UC San Francisco.
Indeed, after diseased mice were treated with the experimental drug for several weeks, they performed better in learning and memory tests than untreated animals—they both learned faster and retained memories longer.
Two different types of brain cells—interneurons and excitatory cells—have NMDA receptors, and future studies will address which cell type is responsible for the beneficial effects of GNE-0723.
At Genentech, Hanson also explained that more research is needed to understand how this class of experimental drugs affects brain function. “For now, we’re focused on using GNE-0723 as a research tool to learn what happens when you enhance NMDA receptors,” Hanson said. “This is a powerful tool to understand both basic biology and disease mechanisms.”
Media ContactMegan McDevitt, Vice President of CommunicationsDirect line: 415.734.2019​
Source: Gladstone Institutes

The Assistance Fund Opens New Program for Chronic Granulomatous Disease

Financial Assistance from The Assistance Fund Now Available for Eligible People Living with Chronic Granulomatous Disease
Press Release – updated: Jan 9, 2020 13:00 EST

ORLANDO, Fla., January 9, 2020 (Newswire.com) – The Assistance Fund (TAF), an independent charitable patient assistance foundation that helps patients and families facing high medical out-of-pocket costs, today announced the launch of a new financial assistance program for people living with chronic granulomatous disease. The program is designed to help eligible individuals pay for their out-of-pocket costs for treatment, such as copayments, health insurance premiums, and incidental medical expenses, resulting from the condition.
Chronic granulomatous disease, or CGD, is a condition characterized by recurrent, life-threatening bacterial and fungal infections that will differ for each patient. People living with CGD struggle with weakened immune systems. Occurring in roughly one out of every 200,000 people worldwide, this serious and rare disease can lead to liver difficulties and frequent infections.[1]
“We know a CGD diagnosis is life-changing for families,” said Mark P. McGreevy, President and CEO of The Assistance Fund. “Lung and skin infections require treatments that are often difficult to access. Thanks to the generous support of our donors, we are able to launch the Chronic Granulomatous Disease Financial Assistance Program and ease the financial burden faced by those seeking treatment.”
“For those diagnosed with Chronic Granulomatous Disease (CGD), medical expenses can be unpredictable and expensive,” said John G. Boyle, President and CEO of the Immune Deficiency Foundation. “Support from The Assistance Fund can help ease the financial burden for patients and improve access to life-saving medical care.”
To learn more or determine eligibility for financial support, visit tafcares.org or call (855) 951-2672 to speak with a Patient Advocate.
A list of all the programs available from The Assistance Fund can be found on the website tafcares.org.
About The Assistance Fund
The Assistance Fund is an independent charitable patient assistance foundation that helps patients and families facing high medical out-of-pocket costs by providing financial assistance for their copayments, coinsurance, deductibles and other health-related expenses. The Assistance Fund currently manages more than 60 programs – each of which covers the FDA-approved medications that treat a specific disease. Since its founding in 2009, The Assistance Fund has helped more than 78,000 adults and children access the medicines they need to stay healthy or manage a chronic condition. To learn more about The Assistance Fund, or for information on how to donate, please visit tafcares.org.
Media ContactMargaret Figley​​Director of Communicationsmargaret.figley@tafcares.org

Source: The Assistance Fund

The Assistance Fund Opens New Program for Pompe Disease

Financial Assistance from The Assistance Fund Now Available for Eligible People Living with Pompe Disease
Press Release – updated: Jan 7, 2020 13:00 EST

ORLANDO, Fla., January 7, 2020 (Newswire.com) – The Assistance Fund (TAF), an independent, charitable patient assistance foundation that helps patients and families facing high medical out-of-pocket costs, today announced the launch of a new financial assistance program for people living with Pompe disease. The program is designed to help eligible individuals pay for their out-of-pocket medical costs for treatment, such as copayments, health insurance premiums, and incidental medical expenses related to the condition.
Pompe disease is an inherited disorder caused by glycogen buildup in cells. The disease affects about one in every 40,000 people in the United States. A mutation in the GAA gene causes glycogen breakdown, leading to Pompe disease. Infants who experience Pompe disease experience muscle weakness, heart defects and a lower than expected weight gain. The disease may not become apparent for some until adolescence or even adulthood, where symptoms are typically milder than those experienced by classic, infantile-onset Pompe disease.[1]
“Pompe disease is a challenging condition that requires costly treatment from an early age,” said Mark P. McGreevy, President and CEO of The Assistance Fund. “The launch of TAF’s Pompe Disease Financial Assistance Program will allow people living with this disease to access the treatment they need as soon as possible, regardless of their ability to pay.”
To learn more or determine eligibility for financial support, visit tafcares.org or call (855) 267-2082 to speak with a Patient Advocate.
A list of all the programs available from The Assistance Fund is available at tafcares.org.
About The Assistance Fund
The Assistance Fund is an independent, charitable patient assistance foundation that helps patients and families facing high medical out-of-pocket costs by providing financial assistance for their copayments, coinsurance, deductibles and other health-related expenses. The Assistance Fund currently manages more than 60 programs – each of which covers the FDA-approved medications that treat a specific disease. Since its founding in 2009, The Assistance Fund has helped more than 78,000 adults and children access the medicines they need to stay healthy or manage a chronic condition. To learn more about The Assistance Fund, or for information on how to donate, please visit tafcares.org.
Media Contact
Margaret Figley​​
Director of Communications
margaret.figley@tafcares.org

Source: The Assistance Fund