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Beta-Thalassemia

Alnylam has a number of other programs in its genetic medicine pipeline, including the development of an RNAi therapeutic for beta-thalassemia and iron overload disorders, as well as an RNAi therapeutic for primary hyperoxaluria (PH1).

Beta-thalassemia is an inherited blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body. In people with beta-thalassemia, insufficient hemoglobin, also known as anemia, leads to a lack of oxygen in many parts of the body.

Reduced hemoglobin production also leads to iron overload, a condition in which the body absorbs excessive amount of iron from the diet. Affected individuals suffer from weakness, fatigue, organ failure, and other more serious complications. People with beta thalassemia are also at an increased risk of developing abnormal blood clots and skeletal deformities.

In general, iron overload is an acquired or inherited disorder where the body absorbs excessive amounts of iron from food and drink. In beta-thalassemia, it is one of the primary causes of disease severity. In beta-thalassemia patients with moderate anemia (Thalassemia Intermedia), iron overload results from excess dietary iron uptake. In beta-thalassemia patients with severe anemia (Thalassemia Major), the need for chronic blood transfusions further exacerbates iron overload and accounts for the majority of excess iron accumulation. Iron overload can damage the liver, heart, pancreas, and other organs, ultimately leading to severe morbidity and increased mortality.

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ALN-TMP for the Treatment of Beta-Thalassemia and Iron Overload Disorders

We are developing ALN-TMP, an RNAi therapeutic targeting targeting transmembrane protease, serine 6 (Tmprss6) for the treatment β-thalassemia and iron overload disorders. Tmprss6, a genetically validated target expressed on liver cells, represses expression of the peptide hormone Hepcidin. Hepcidin is the master regulator of iron and functions by controlling iron availability. Hepcidin elevation reduces dietary iron uptake and restricts iron mobilization throughout the body.
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Alnylam R&D Day 2014 Webcast and Presentations

Alnylam R&D Day 2014 Webcast and Presentations

On December 12, we hosted an R&D Day in New York City. Alnylam management and key opinion leaders discussed the latest progress as well as plans for the future development of our RNAi therapeutics pipeline. At this event, we announced our pipeline growth strategy for development and commercialization of RNAi therapeutics across three Strategic Therapeutic Areas (STArs): Genetic Medicines, Cardio-metabolic Disease, and Hepatic Infectious Disease.



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Clinical and Pre-Clinical Data on RNAi Therapeutics at 10th Oligonucleotide Therapeutics Society Meeting

Clinical and Pre-Clinical Data on RNAi Therapeutics at 10th Oligonucleotide Therapeutics Society Meeting

We presented new data from multiple clinical and pre-clinical studies at the 10th Annual Meeting of the Oligonucleotide Therapeutics Society (OTS), held October 12 – 15, 2014 in San Diego.  Among multiple presentations, we presented additional data from our Phase 1 trial with ALN-TTRsc showing rapid, dose-dependent, stable, and durable knockdown of serum TTR of up to 96.2%.  In addition, we presented pre-clinical data from a new program, ALN-GO1, an investigational RNAi therapeutic targeting glycolate oxidase (GO) in development for the treatment of primary hyperoxaluria type 1 (PH1), showing efficacy in rodent disease models.  Finally, we presented new pre-clinical research demonstrating that delivery of Enhanced Stabilization Chemistry (ESC)-GalNAc-siRNA conjugates to the lung achieves similar plasma exposure, efficacy, and duration of liver gene silencing as achieved by subcutaneous delivery.  This finding opens up the possibility for needle-less administration of RNAi therapeutics via inhalation for knockdown of liver disease genes.





Pre-Clinical Data from “Alnylam 5×15” Programs Presented at ASH 2013

Pre-Clinical Data from “Alnylam 5×15” Programs Presented at ASH 2013

We presented pre-clinical data from three programs within our “Alnylam 5×15” RNAi therapeutic pipeline: ALN-AT3 for the treatment of hemophilia and rare bleeding disorders (RBD), ALN-CC5 for the treatment of complement-mediated diseases, and ALN-TMP for the treatment of β-thalassemia and iron overload disorders. These data were presented at the 55th Annual Meeting of the American Society of Hematology (ASH) held December 7 – 10 in New Orleans.



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