2021 – Page 6 – Patient Worthy

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Patients with Chronic Kidney Disease and Hyperkalemia Associated with Major Adverse Cardiovascular Events

Post author:Alyssa Stevens
Post published:December 2, 2021
Post category:Chronic Kidney Disease Hyperkalemia

According to a recent article, a study shows patients with nondialysis-dependent chronic kidney disease and transient or chronic hyperkalemia, correspond with major adverse cardiovascular events (MACE) and even death. Chronic…

New Gene Silencing Treatment Could Target The Root Cause of Porphyria

Post author:Trudy Horsting
Post published:December 2, 2021
Post category:Acute hepatic porphyria hepatic porphyria

The National Institute for Health and Care Excellence (NICE) has just recommended a gene silencing treatment for acute hepatic porphyria (AHP), a rare disease. AHP AHP is a term for…

“Save Our Medicine:” NPC Families Fight to Save Experimental Medication Access (Pt. 2)

Post author:Jessica Lynn
Post published:December 1, 2021
Post category:Niemann-Pick Disease Niemann-Pick Type C Disease

For Part 2 of "Save Our Medicine," we continue talking with Tiffany, DeAnna, and Sara about their families' NPC journeys, as well as the push for medication access. If you…

Study for Vision Loss from NF1 Optic Pathway Glioma Funded By Gilbert Family Foundation

Post author:Alyssa Stevens
Post published:December 1, 2021
Post category:Neurofibromatosis Neurofibromatosis Type 1 Neurofibromatosis Type 2

According to a recent article, the nonprofit Gilbert Family Foundation has offered to fund the $5.4 million clinical study to better understand vision loss from NF1-associated optic pathway gliomas (NF1-OPGs).…

Courtesy of Debbie Kaflowitz

Remembering Rachael Kaflowitz: One Mother’s Fight to Support NPC Research and Awareness (Pt. 3)

Post author:Jessica Lynn
Post published:December 1, 2021
Post category:Niemann-Pick Disease Niemann-Pick Type C Disease

To learn more about Rachael's story, Niemann-Pick type C (NPC) symptoms, the diagnostic process, and how her mother Debbie found and offered support to other families, take a look at Parts…

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RGX-202 for DMD Earns Orphan Drug Designation

Post author:Jessica Lynn
Post published:December 1, 2021
Post category:Duchenne Muscular Dystrophy

According to a November 23 article from Muscular Dystrophy News, the FDA recently granted Orphan Drug designation to clinical-stage biotechnology company Regenxbio's experimental gene therapy candidate, RGX-202. The gene therapy,…

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A Five Year $2.25M Grant Has Been Awarded for the Study of Alport Syndrome

Post author:Rose Duesterwald
Post published:December 1, 2021
Post category:Alport syndrome

Jeffrey Miner, Ph.D., Director of Basic Research in Washington University’s Division of Nephrology, has received a $2.25M five-year grant from the National Institute of Diabetes and Digestive and Kidney…

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Study: Telotristat Ethyl Improves Symptoms in Carcinoid Syndrome Patients

Post author:Kendall Mason
Post published:December 1, 2021
Post category:Carcinoid Syndrome

A recent poster presentation at the 2021 NANETS Annual Meeting focused on the RELAX study, which evaluated patient-reported outcomes from carcinoid syndrome (CS) patients being treated with telotristat ethyl. According…

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Jo’s Story: Receiving a Late Diagnosis of von Willebrand Disease

Post author:Kendall Mason
Post published:December 1, 2021
Post category:Von Willebrand's Disease

Jo Traunter was told that she was "a bleeder" throughout her life, whether it was by family, doctors, or others. She earned this title after living through decades of heavy…

“Save Our Medicine:” NPC Families Fight to Save Experimental Medication Access (Pt. 1)

Post author:Jessica Lynn
Post published:November 30, 2021
Post category:Niemann-Pick Disease Niemann-Pick Type C Disease

If your child was sick and there was a real, viable treatment option, the next step seems pretty straightforward: pursuing that option. But what if it wasn’t that easy? What…

Photo by Robina Weermeijer on Unsplash

ICYMI: Trial Begins to Evaluate Savolitinib and IMFINZI for Renal Cell Carcinoma

Post author:Jessica Lynn
Post published:November 30, 2021
Post category:Papillary renal cell carcinoma Renal Cell Carcinoma

According to a news release, researchers from biopharmaceutical company HUTCHMED and pharmaceutical company AstraZeneca launched, at the onset of November 2021, the Phase 3 SAMETA clinical trial. During the trial,…

Courtesy of Debbie Kaflowitz

Remembering Rachael Kaflowitz: One Mother’s Fight to Support NPC Research and Awareness (Pt. 2)

Post author:Jessica Lynn
Post published:November 30, 2021
Post category:Niemann-Pick Disease Niemann-Pick Type C Disease

In Part 1 of Rachael's story, I spoke with her mother Debbie about what Niemann-Pick type C (NPC) is, the beginning of the diagnostic journey, and how Dr. Behar helped…

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Centenary College is Hosting a National Marrow Drive for an MDS Patient

Post author:Kendall Mason
Post published:November 30, 2021
Post category:Myelodysplastic syndromes

Over the past few weeks, Centenary College has partnered with Be The Match to host a stem cell donor drive. The first two drives were on November 18th and 19th,…

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Multiple Myeloma Increases Risk of Breakthrough COVID-19 Infection

Post author:Jessica Lynn
Post published:November 30, 2021
Post category:COVID-19 Multiple Myeloma

Since the onset of COVID-19, there have been approximately 262M cases, and 5.2M deaths, on a worldwide scale. However, the introduction of various COVID-19 vaccines, such as those from Pfizer…

The TSC Navigator: A New Resource to Guide Families through the TSC Journey (Pt. 2)

Post author:Jessica Lynn
Post published:November 30, 2021
Post category:Tuberous Sclerosis Complex

In Part 1 of "The TSC Navigator: A New Resource to Guide Families through the TSC Journey," I sat down with Ashley Pounders to discuss the TSC Navigator, its purpose,…

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Study: What is the Association Between Asthma and Narcolepsy?

Post author:Kendall Mason
Post published:November 30, 2021
Post category:Narcolepsy

A recent study published in Nature and Science of Sleep looked at asthma and its possible connection to narcolepsy, actually finding indications that an asthma diagnosis raises the risk of…

Ari’s Bears Provides $30,000 for Rhabdomyosarcoma Research

Post author:Kendall Mason
Post published:November 29, 2021
Post category:Rhabdomyosarcoma- embryonal

Childhood cancer is an area that requires research and innovation, as there are currently many unmet medical needs within these patient populations. Fortunately, one non-profit has been working on raising…

New Treatment For Alpha-1 Antitrypsin Deficiency Lung Disease Has Been Granted Orphan Drug Designation

Post author:Trudy Horsting
Post published:November 29, 2021
Post category:Alpha-1 Antitrypsin Deficiency

Mereo BioPharma Group has just announced that they have received Orphan Drug Designation from the FDA for their new treatment for alpha-1 antitrypsin deficiency (A1AD) called alvelestat. This therapy is…

Courtesy of Debbie Kaflowitz

Remembering Rachael Kaflowitz: One Mother’s Fight to Support NPC Research and Awareness (Pt. 1)

Post author:Jessica Lynn
Post published:November 29, 2021
Post category:Niemann-Pick Disease Niemann-Pick Type C Disease

“Hi, I’m Rachael, and I’m forever 33.” When Debbie Kaflowitz remembers her daughter, she thinks about everything that Rachael loved to do. Rachael enjoyed dancing and performing in ballet recitals,…

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Study: Cabozantinib for Renal Cell Carcinoma Brain Metastases

Post author:Kendall Mason
Post published:November 29, 2021
Post category:Renal Cell Carcinoma

A recent study was published in JAMA Oncology outlining a retrospective cohort study analyzing cabozantinib as a treatment for renal cell carcinoma that has metastasized to the brain. According to the data,…

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First Patient Dosed in China Portion of Efgartigimod Trial for CIDP

Post author:Jessica Lynn
Post published:November 29, 2021
Post category:Chronic Inflammatory Demyelinating Polyneuropathy

In mid-November 2021, global biopharmaceutical company Zai Lab Limited ("Zai Lab") shared via news release that the first patient was dosed in the Greater China portion of the ADHERE study.…

The TSC Navigator: A New Resource to Guide Families through the TSC Journey (Pt. 1)

Post author:Jessica Lynn
Post published:November 29, 2021
Post category:Tuberous Sclerosis Complex

The TSC Alliance® first began as a grassroots organization, founded by motivated mothers whose children had been diagnosed with tuberous sclerosis complex (TSC), a rare genetic disease. Since its founding,…

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Teacher Raises Awareness of Multiple System Atrophy

Post author:Jessica Lynn
Post published:November 29, 2021
Post category:Multiple system atrophy Multiple system atrophy (MSA)

Nancy Green and Judi Beckerleg first met nearly 22 years ago in 1999. After Judi moved to Arizona, she began working as an aide in Nancy's classroom, where Nancy taught…

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The Porphyria Symposium: Claire’s Experience, and How Conferences Can Better Incorporate The Patient Perspective

Post author:Trudy Horsting
Post published:November 26, 2021
Post category:hepatic porphyria

Claire Richmond lives with acute hepatic porphyria (AHP). She searched for 19 years to find answers to her unexplained pain. She wasn't diagnosed until she was 32. She recently had…

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Study Finds Systemic Mastocytosis Patients Without CMIHR History Don’t Need Premedication Prior to Imaging

Post author:Trudy Horsting
Post published:November 26, 2021
Post category:Systemic mastocytosis

Results from a study on systemic mastocytosis (SM) have recently been published. This investigation aimed to understand the prevalence of contrast media induced hypersensitivity reactions (CMIHR) in different subtypes of…

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Patients with Chronic Kidney Disease and Hyperkalemia Associated with Major Adverse Cardiovascular Events

New Gene Silencing Treatment Could Target The Root Cause of Porphyria

“Save Our Medicine:” NPC Families Fight to Save Experimental Medication Access (Pt. 2)

Study for Vision Loss from NF1 Optic Pathway Glioma Funded By Gilbert Family Foundation

Remembering Rachael Kaflowitz: One Mother’s Fight to Support NPC Research and Awareness (Pt. 3)

RGX-202 for DMD Earns Orphan Drug Designation

A Five Year $2.25M Grant Has Been Awarded for the Study of Alport Syndrome

Study: Telotristat Ethyl Improves Symptoms in Carcinoid Syndrome Patients

Jo’s Story: Receiving a Late Diagnosis of von Willebrand Disease

“Save Our Medicine:” NPC Families Fight to Save Experimental Medication Access (Pt. 1)

ICYMI: Trial Begins to Evaluate Savolitinib and IMFINZI for Renal Cell Carcinoma

Remembering Rachael Kaflowitz: One Mother’s Fight to Support NPC Research and Awareness (Pt. 2)

Centenary College is Hosting a National Marrow Drive for an MDS Patient

Multiple Myeloma Increases Risk of Breakthrough COVID-19 Infection

The TSC Navigator: A New Resource to Guide Families through the TSC Journey (Pt. 2)

Study: What is the Association Between Asthma and Narcolepsy?

Ari’s Bears Provides $30,000 for Rhabdomyosarcoma Research

New Treatment For Alpha-1 Antitrypsin Deficiency Lung Disease Has Been Granted Orphan Drug Designation

Remembering Rachael Kaflowitz: One Mother’s Fight to Support NPC Research and Awareness (Pt. 1)

Study: Cabozantinib for Renal Cell Carcinoma Brain Metastases

First Patient Dosed in China Portion of Efgartigimod Trial for CIDP

The TSC Navigator: A New Resource to Guide Families through the TSC Journey (Pt. 1)

Teacher Raises Awareness of Multiple System Atrophy

The Porphyria Symposium: Claire’s Experience, and How Conferences Can Better Incorporate The Patient Perspective

Study Finds Systemic Mastocytosis Patients Without CMIHR History Don’t Need Premedication Prior to Imaging

Metastatic Breast Cancer: Navigating Grief

Rethinking What It Means to Live With Acromegaly

The Let’s Chat CAR T One-on-One Mentor Program: Speaking with Someone Who Understands What You Are Going Through

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