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CheckRare
United States
Приєднався 14 сер 2015
Rare Diseases Are Our Focus, Expertise, and Passion.
CheckRare is a learning platform for healthcare professionals and the rare disease community. We provide expert discussions regarding rare diseases, current and emerging therapies, clinical trials, advocacy, and BioPharma companies.
CheckRare is a learning platform for healthcare professionals and the rare disease community. We provide expert discussions regarding rare diseases, current and emerging therapies, clinical trials, advocacy, and BioPharma companies.
Caregivers’ Experiences With Frontotemporal Dementia
Tiffany Chow, MD, Behavioral Neurologist, Vice President of Clinical Development at Alector, discusses a survey conducted to better understand the experiences of caregivers for patients with frontotemporal dementia (FTD).
FTDs are a group of neurodegenerative disorders associated with shrinking of the frontal and temporal anterior lobes of the brain. Symptoms include marked changes in social behavior and personality, and/or problems with language.
Examples of problems with language include difficulty speaking or understanding speech. Some people with FTD also develop neuromuscular disorders such as parkinsonism or motor neuron disease. There is a genetic component to FTDs. It sometimes follows an autosomal dominant inheritance pattern, while in other cases there is a general family history of dementia or psychiatric disorders. The three main genes responsible for familial FTD are MAPT, GRN, and C9orf72. However, the genetic cause of familial FTD cannot always be identified.
A recent caregiver survey was conducted to understand the experiences of caregivers for patients with FTD and identify gaps. Of the 90 caregivers surveyed, 44% stressed the importance of caregiver support programs but noted utilization barriers such as affordability. Services needed the most included respite services, in-home care, adult day care, and caregiver support programs. Additionally, over 33% of caregivers spend over 40 hours a week providing care to their patients, with 28% of these resigning from their jobs, 30% retiring early, and 47% decreasing working hours.
Chapters:
Frontotemporal Dementia Overview
Causes of FTD
Current Management
Caregiver Challenges
Current Research
FTDs are a group of neurodegenerative disorders associated with shrinking of the frontal and temporal anterior lobes of the brain. Symptoms include marked changes in social behavior and personality, and/or problems with language.
Examples of problems with language include difficulty speaking or understanding speech. Some people with FTD also develop neuromuscular disorders such as parkinsonism or motor neuron disease. There is a genetic component to FTDs. It sometimes follows an autosomal dominant inheritance pattern, while in other cases there is a general family history of dementia or psychiatric disorders. The three main genes responsible for familial FTD are MAPT, GRN, and C9orf72. However, the genetic cause of familial FTD cannot always be identified.
A recent caregiver survey was conducted to understand the experiences of caregivers for patients with FTD and identify gaps. Of the 90 caregivers surveyed, 44% stressed the importance of caregiver support programs but noted utilization barriers such as affordability. Services needed the most included respite services, in-home care, adult day care, and caregiver support programs. Additionally, over 33% of caregivers spend over 40 hours a week providing care to their patients, with 28% of these resigning from their jobs, 30% retiring early, and 47% decreasing working hours.
Chapters:
Frontotemporal Dementia Overview
Causes of FTD
Current Management
Caregiver Challenges
Current Research
Переглядів: 29
Відео
Efficacy of Vosoritide in Genetic Skeletal Conditions
Переглядів 11223 години тому
Andrew Dauber, MD, Chief of Endocrinology at Children’s National Hospital, discusses data presented on the efficacy of vosoritide in genetic skeletal conditions. Achondroplasia is a rare skeletal disorder that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range of motion at the elbows, large head size, ...
Results from the HIMALAYA Clinical Trial for Hepatocellular Carcinoma
Переглядів 124День тому
Shubh Goel, VP, Head of Immuno-Oncology and GI Tumors Franchise for US Oncology at AstraZeneca, discusses results from the HIMALAYA clinical trial for hepatocellular carcinoma (HCC). HCC is a rare liver carcinoma characterized by nodules occurring within the liver. These nodules are composed of neoplastic epithelial cells with hepatocellular differentiation. The vast majority of tumors are asso...
Investigational Drug for Fragile X Syndrome Improves Cognition
Переглядів 76День тому
Elizabeth Berry-Kravis, MD, PhD, Pediatric Neurologist at Rush University Medical Center, discusses the development of an investigational drug for Fragile X syndrome (FXS). FXS is a rare genetic condition involving mutations in part of the X chromosome. This condition causes a range of developmental problems including learning disabilities and cognitive impairment. It is the most common form of...
The GRIN2B Foundation
Переглядів 139День тому
Liz Marfia-Ash, President and Founder of GRIN2B Foundation, discusses life as a parent of a GRIN2B patient and resources her foundation offers. GRIN-related neurodevelopmental disorders are a family of rare genetic disorders caused by pathogenic mutations in the GRIN genes. These disorders are characterized by childhood-onset epilepsy, developmental delay, movement disorders, and features of au...
Results from Clinical Trial Testing Investigational Drug for GRIN-Related Disorders
Переглядів 1892 дні тому
Bruce Leuchter, MD, Co-founder and CEO of Neurvati Neurosciences and GRIN Therapeutics, discusses topline results from clinical trial testing investigational radiprodil for GRIN-related disorders. GRIN-related neurodevelopmental disorders are a family of rare genetic conditions caused by pathogenic mutations in the GRIN genes. These disorders are characterized by childhood-onset epilepsy, devel...
Genetic Associations With ALS Reversals
Переглядів 39114 днів тому
Richard Bedlack, MD, PhD, Stewart, Hughes and Wendt Distinguished Professor of ALS at Duke University, discusses a study identifying genetic associations with amyotrophic lateral sclerosis (ALS) reversals. ALS, also referred to as "Lou Gehrig's disease," is a motor neuron disease which leads to problems with muscle control and movement. There are various types of ALS that are distinguished by e...
Investigational Therapy for Dermatomyositis
Переглядів 14014 днів тому
Ben Zimmer, CEO of Priovant Therapeutics, discusses the VALOR clinical trial testing investigational therapy brepocitinib for the treatment of dermatomyositis. Dermatomyositis is a rare autoimmune condition that causes skin changes and muscle weakness. Symptoms can include a red skin rash around the eyelids, red bumps around the joints, and muscle weakness in the arms and legs. Muscle weakness ...
FDA Approves Treatment for Chronic Graft Versus Host Disease
Переглядів 18721 день тому
Corey Cutler, MD, Director of Adult Stem Cell Transplantation Program at Dana-Farber Cancer Institute in Boston and a Professor of Medicine at Harvard Medical School, discusses the approval of Niktimvo (axatilimab) for the treatment of chronic graft versus host disease (GVHD). Chronic GVHD is a rare complication that can occur after a stem cell or bone marrow transplant in which the newly trans...
Global Cancer Burden Among Men: Disparities and Projections
Переглядів 17421 день тому
Ryan Motte, PharmD, Clinical Pharmacist at Shields Health Solutions, discusses recent data concerning the global cancer burden among men and projections for the year 2050. Men are disproportionately affected by modifiable risk factors such as smoking and alcohol consumption, leading to higher cancer incidence and lower survival rates compared to women. Despite this, comprehensive data on global...
Advancements in the Treatment of Myasthenia Gravis
Переглядів 23521 день тому
Henry J. Kaminski, MD, Professor of Medicine at The George Washington University, Lead of the Myasthenia Gravis Rare Disease Network (MGNET), explains “Myasthenia Gravis: The Future Is Here,” an article discussing advancements in the treatment of myasthenia gravis (MG). MG is a chronic autoimmune neuromuscular disease characterized by weakness of the skeletal muscles. The condition results from...
Addressing the Challenges of Hypercortisolism in Cushing’s Syndrome
Переглядів 146Місяць тому
David Katz, PhD, Chief Scientific Officer and Founder of Sparrow Pharmaceuticals, discusses how clofutriben addresses the challenges of hypercortisolism in Cushing’s syndrome. Cushing's syndrome is a rare endocrine disorder caused by prolonged exposure of the body's tissues to high levels of cortisol. Signs and symptoms of Cushing's syndrome include upper body obesity, fatigue, muscle weakness,...
Accelerated Approval for IgA Nephropathy Treatment
Переглядів 530Місяць тому
Dana Rizk, MD, Professor of Medicine at the University of Alabama at Birmingham, discusses the U.S. Food and Drug Administration (FDA) accelerated approval of Fabhalta (iptacopan) for the reduction of proteinuria in adults with IgA nephropathy (IgAN). IgAN is a rare kidney disorder that occurs when immunoglobulin A (IgA), a protein that helps the body fight infections, settles in the kidneys. I...
Pegcetacoplan in Patients With C3G and Primary IC-MPGN
Переглядів 92Місяць тому
Carla Nester, MD, professor at the University of Iowa and lead principal investigator for the VALIANT study, discusses the clinical trial testing pegcetacoplan in patients with C3G and primary IC-MPGN. Complement 3 glomerulopathy (C3G) and immune-complex membranoproliferative glomerulonephritis (IC-MPGN) are rare kidney diseases characterized by damage to the glomeruli in the kidney that filter...
Treatment Effect on Patient Pain and Quality of Life in Neuromyelitis Optica
Переглядів 206Місяць тому
Bruce Cree, MD, PhD, Professor of Clinical Neurology at the University of California San Francisco, discusses a post hoc analysis of patient pain and quality of life data in treatment with Uplizna (inebilizumab-cdon) for neuromyelitis optica. Neuromyelitis optica spectrum disorders (NMOSD) affect the spinal cord and optic nerves. Symptoms include pain, weakness, bowel and bladder problems, and ...
Navigating Diagnosis and Treatment for Primary Biliary Cholangitis: The Role of the Patient Voice
Переглядів 251Місяць тому
Navigating Diagnosis and Treatment for Primary Biliary Cholangitis: The Role of the Patient Voice
Long-Term Data of Trofinetide in Patients With Rett Syndrome
Переглядів 212Місяць тому
Long-Term Data of Trofinetide in Patients With Rett Syndrome
Long-Term Data of Trofinetide in Patients With Rett Syndrome
Переглядів 399Місяць тому
Long-Term Data of Trofinetide in Patients With Rett Syndrome
Expanded Label of Treatment for Primary Immunodeficiencies
Переглядів 190Місяць тому
Expanded Label of Treatment for Primary Immunodeficiencies
Long-Term Data Testing Treatment in Patients With Thyroid Eye Disease
Переглядів 180Місяць тому
Long-Term Data Testing Treatment in Patients With Thyroid Eye Disease
Patient Perspective: Journey to a Myasthenia Gravis Diagnosis
Переглядів 662Місяць тому
Patient Perspective: Journey to a Myasthenia Gravis Diagnosis
Gene Therapy Long-Term Data for Retinal Dystrophy
Переглядів 200Місяць тому
Gene Therapy Long-Term Data for Retinal Dystrophy
CTCL: Shortening the Diagnostic Journey and Starting Treatment Early (Full Interview)
Переглядів 242Місяць тому
CTCL: Shortening the Diagnostic Journey and Starting Treatment Early (Full Interview)
CTCL: The Role of the Dermatologist in Caring for Patients (Chapter 3)
Переглядів 159Місяць тому
CTCL: The Role of the Dermatologist in Caring for Patients (Chapter 3)
Global Care Collaborative Pioneers Consensus for Improving Diagnosis and Care in CTCL (Chapter 4)
Переглядів 122Місяць тому
Global Care Collaborative Pioneers Consensus for Improving Diagnosis and Care in CTCL (Chapter 4)
Breakthrough Therapy for CIDP Treatment
Переглядів 367Місяць тому
Breakthrough Therapy for CIDP Treatment
Phase 2 Trial Evaluating LUM-201 for Treatment of Growth Hormone Deficiency
Переглядів 2582 місяці тому
Phase 2 Trial Evaluating LUM-201 for Treatment of Growth Hormone Deficiency
CTCL: The Role of Dermatologists in Diagnosing and Caring for Patients (Full Interview)
Переглядів 2832 місяці тому
CTCL: The Role of Dermatologists in Diagnosing and Caring for Patients (Full Interview)
Hernandez Christopher Lewis Karen Young Sharon
What virus?
How about you guys find a treatment rather than putting effort in these rare reversals. What happened to all the money put into this disease and right to try back in 2021? It's almost 2025 and I see shit worth of progress on this disease.
Florencio Land
What is the breakthrough treatment? How do we get it?
Bednar Springs
Vesta Freeway
Kraig Bypass
I'm trying to save my life and my children's lives if we have this. I'm pretty sure that we do. I'm 47 and my mom passed away at 49 and I don't smoke but my liver has been injured over and over and I have been really sick the past two years. Can you please tell me what direction to go? I have done all the research in my own to find out what is wrong because the doctors around here really don't know what they are doing and I can't believe that. I always thought that they cared enough to do whatever it took to find out but I can't even get them to believe me. This has been a nightmare and I feel like time is running out for me. I'm not going to give up I'm not going to let this happen to my children. Like I said it is mostly my liver but sometimes I feel like I can't get enough oxygen so I started expanding my lungs with deep breathing so I don't panic because my mom was on steroids and she couldn't breathe. I'm begging you for any information and how to get treatment. I live in Shelbyville Indiana. Thank you for this video 🙏
Abernathy Plains
Emie Crossing
Hoeger Ports
Ayden Brook
Bogisich Cliff
Delphia Neck
Mraz Shoal
Julie Land
Pete Harbor
I am extremely grateful to Dr Ikpoko on UA-cam, this great herbal doctor get me healed from my Genital warts without no side effects. I am bold to say I’m completely free from this virus after using his herbal medicine as prescribed to me.
Rodriguez Matthew Harris John Perez Jason
Fast forward to September 27th 2024 , this drug Oxbryta is being withdrawn from the market worldwide because of safety concerns. The drug maker said the benefits of Oxbryta no longer outweigh the risks. The company's data indicated patients could suffer from severe pain and even death.
When will this drug be available in Europe?
Cole Manors
Giovani Road
Sandra Tunnel
Woodrow Route
Ernesto Courts
Very exciting news! Thank you ❤
Violet Haven
Pansy Mountain
Konopelski Skyway
Lourdes Landing
September 26, 2024: Immediately after the stock market closed yesterday, Pfizer announced that “it’s voluntarily withdrawing all lots of OXBRYTA for the treatment of sickle cell disease at this time, in all markets where it is approved. Pfizer is also discontinuing all active clinical trials for the drug and expanded access programs worldwide.”
Gorczany Parkways
Gaetano Trafficway
660 Owen Causeway
Denesik Roads
Corkery Common
Bahringer Gardens
Eunice Prairie
Estefania Groves
Effertz Harbors
Adelbert Mountains
Keeling Flat
Reynolds Lake
Arely Crest
Yundt Trace
Bruen Ports
Laura Pines
Albin Ferry