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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 .
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]
As a result of pressure from HIV-infected men in the gay community, [citation needed] who demanded better access to clinical trials, the U.S. Congress passed the Health Omnibus Programs Extension Act of 1988 (Public Law 100-607) [2] which mandated the development of a database of AIDS Clinical Trials Information Services (ACTIS). [3]
Gene therapy is another treatment option which is available only for clinical trials. [34] X-linked SCID is a monogenic disorder, the IL2RG gene is mutated, so gene therapy will replace this mutated gene with a normal one. [39] This will result in a normal functioning gamma chain protein of the interleukin receptor. [35]
This database contains 3,730 therapeutic targets (532 successful, 1,442 clinical trial, 239 preclincial/patented and 1,517 research targets) and 39,862 drugs (2,895 approved, 11,796 clinical trial, 5,041 preclincial/patented and 20,130 experimental drugs).
The analogy is that the Janus data repository would enable the FDA and the pharmaceutical industry to both look retrospectively into past clinical trials, and also relative to one or more current clinical trials (or even future clinical trials thru better enablement of clinical trial design). The Janus data model is a relational database model ...
A woman accessing the PDQ database with an early laptop in 1987. Physician Data Query (PDQ) is the US National Cancer Institute's (NCI) comprehensive cancer database. [1] [2] It contains peer-reviewed summaries on cancer treatment, screening, prevention, genetics, and supportive care, and complementary and alternative medicine; a registry of more than 6,000 open and 17,000 closed cancer ...
The RDCRN is designed to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment, and data sharing. Through the RDCRN consortia, physician scientists and their multidisciplinary teams work together with patient advocacy groups to study more than 200 rare diseases at ...