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Danon disease involves a genetic defect (mutation) in a gene called LAMP2, which results in a change to the normal protein structure. While the function of the LAMP2 gene is not well understood, it is known that LAMP2 protein is primarily located in small structures within cells called lysosomes .
Danon Disease, the most common form of AVM, could possibly be cured by adeno-associated virus 9 (AAV9)–mediated gene therapy. [30] Clinical studies on mice with the mutated LAMP2 gene have shown that the injection of the normal human LAMP2B gene into Lamp2 knockout mice actually managed to cure the mice from Danon disease. [7]
The safety and efficacy of Myozyme were assessed in two separate clinical trials in 39 infantile-onset patients with Pompe disease ranging in age from 1 month to 3.5 years at the time of the first infusion. [8] Myozyme treatment prolongs ventilator-free survival and overall survival. Early diagnosis and early treatment lead to much better outcomes.
The DRKS is an open access, free of charge online register for clinical trials and is available both in English and German. DRKS is part of the WHO's ICTRP. The DRKS works with two partner registries in Germany, DeReG (German Registry for Somatic Gene-Transfer Trials) and Clinical Trial Registry of the University Medical Center Freiburg. [4]
Clinical endpoints or clinical outcomes are outcome measures referring to occurrence of disease, symptom, sign or laboratory abnormality constituting a target outcome in clinical research trials. The term may also refer to any disease or sign that strongly motivates withdrawal of an individual or entity from the trial, then often termed a ...
Danon disease, which is a rare genetic disorder, was also observed to complicate TOF. In particular, elongation of the QRS complex and a shortened PR interval . Genetic abnormalities found in TOF may lead to the earlier diagnosis of Danon disease, helping to improve prognostic outcomes.
A new nomenclature based on clinical severity and genetic cause was recently proposed by OMIM. [37] The severity classifications are A (severe), B (intermediate), and C (mild). The subtypes are numbered one to six according to the genetic cause, in the following order: (1) POMT1 , (2) POMT2 , (3) POMGNT1 , (4) FKTN , (5) FKRP , and (6) LARGE .
Primary hyperoxaluria is an autosomal recessive disease, meaning both copies of the gene contain the mutation. Both parents must have one copy of this mutated gene to pass it on to their child, but they do not typically show signs or symptoms of the disease.