Rare Disease News, Perspectives & Resources - Rare Disease Advisor
WEBIMPT-514, an experimental CAR T-cell therapy produced by ImmPACT Bio, has been approved by the US Food and Drug Administration (FDA) for phase 1 multiple sclerosis (MS) trials. By Ed Tobias, MS Contributor. September 9, 2024.
Paroxysmal Nocturnal Hemoglobinuria (PNH) - Rare Disease Advisor
WEBParoxysmal nocturnal hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells that manifests with chronic intravascular hemolysis and bone marrow failure. A mutation in the phosphatidylinositol glycan class A (PIGA) gene causes a deficiency of glycosylphosphatidylinositol (GPI)-anchored complement-regulating proteins, such as CD55 and CD59, on the surface of blood cells ...
Long Chain Fatty Acid Oxidation Disorder (LC-FAOD) - Rare …
WEBLong chain fatty acid oxidation disorders (LCFAOD) are a group of autosomal recessive genetic metabolic disorders characterized by the inability to metabolize fatty acids. 1. There are 6 types of LCFAODs based on the causative genetic mutation, which either affects the ability of long chain fatty acids to enter the mitochondria or their beta oxidation once inside the mitochondria. 2
Hemophilia Testing - Rare Disease Advisor
WEBAug 11, 2021 · Hemophilia is due to a deficiency of coagulation factor VIII (hemophilia A) or coagulation factor IX (hemophilia B). 1 One other type, hemophilia C, which is very rare, is caused by a deficiency of clotting factor XI. 2 A meticulous diagnostic workup is necessary for the proper management of hemophilia, and comprehensive laboratory testing is required. . According to the World Federation of ...
Cystic Fibrosis Pathophysiology - Rare Disease Advisor
WEBCystic fibrosis (CF) is the most frequently occurring rare genetic disease among Caucasians, affecting more than 30,000 individuals in the United States and 80,000 globally. 1,2 Inheritance is autosomal recessive. CF is characterized by the secretion of thick, viscous mucus, which accumulates and causes dysfunction in multiple organs, especially those of the gastrointestinal, pulmonary, and ...
Myasthenia Gravis Signs and Symptoms - Rare Disease Advisor
WEBFeb 9, 2022 · Myasthenia gravis (MG) is the most common neuromuscular junction (NMJ) disorder affecting skeletal muscle. The formation of autoantibodies against post-synaptic NMJ proteins, usually acetylcholine receptors (AChRs), impedes neurotransmission across the NMJ, causing fatigue and muscle weakness. 1 Autoantibodies may also be directed at receptors for muscle-specific kinase (MuSK) and lipoprotein ...
Cystic Fibrosis Epidemiology - Rare Disease Advisor
WEBCystic fibrosis is a progressive, inherited, rare disease in which CF transmembrane conductance regulator (CFTR) gene mutations produce abnormal CFTR protein channels that negatively affect the transportation of sodium and chloride ions across cellular epithelial membranes.This results in the accumulation of thick, sticky mucus, which causes progressive dysfunction in multiple organ systems. 1 ...
Sickle Cell Disease Risk Factors - Rare Disease Advisor
WEBApr 16, 2024 · Sickle cell disease (SCD) is an inherited blood disorder that causes the production of abnormal hemoglobin. Instead of normal red blood cells, which are round and flexible with a lifespan of up to 120 days in the body, SCD is characterized by abnormal red blood cells that are rigid and have a “C” or elongated sickle shape.
Patient Education for Hemophilia - Rare Disease Advisor
WEBAug 11, 2021 · Understanding Hemophilia. Hemophilia is a rare bleeding disorder characterized by a deficiency of specific clotting factors in the blood. Clotting factors are proteins required for blood clots to form after injury to a blood vessel. Hemophilia types A and B are inherited in an X-linked recessive pattern, so that they affect primarily males, who have only one X chromosome. 1
Betaseron/Extavia (interferon beta-1b) - Rare Disease Advisor
WEBInterferon beta-1b is a cytokine used for the treatment of relapsing-remitting multiple sclerosis (RRMS) and secondary-progressive forms of multiple sclerosis (SPMS). It is commercialized as Betaseron ® (by Bayer) and as Extavia ® (by Novartis). 1,2 The US Food and Drug Administration (FDA) approved Betaseron in 1993 1 and Extavia in 2009. 3.