Rocket Pharmaceuticals, Inc. products

LAD-I is a rare genetic disorder affecting the immune system and is caused by a defect in the ITGB2 gene, leading to a deficiency in CD18. Due to this deficiency, white blood cells (primarily neutrophils) are unable to leave the bloodstream to go to the site of infection.  As a result, patients with severe LAD-I can develop life-threatening infections which they are unable to fight. Without a successful bone marrow transplant, severe LAD-I is frequently fatal during the first 2 years of life.

PKD is a rare, genetic blood disorder. PKD is caused by a defect in the PKLR gene which is responsible for energy production in red blood cells (RBCs). RBCs carry oxygen to the rest of the body. When the PKLR gene has a defect, RBCs are limited in their ability to produce energy and remain intact. As a result, patients with PKD frequently have anemia, chronic fatigue, yellowing of the skin and eyes (jaundice) and enlarged spleens.

FA is a rare, genetic disorder affecting DNA repair. Approximately two-thirds of FA cases are caused by genetic defects in the FANCA gene, which results in the FA subtype known as FA Complementation Group A (FA-A). FA patients may develop bone marrow failure (very low blood counts), cancers of the blood or other cancers.

Danon Disease (DD) is a rare genetic disorder that is characterized by severe and primarily hypertrophic cardiomyopathy. Skeletal muscle weakness and mild cognitive impairment are also common.  The causative mutation has been identified in the gene encoding for lysosome-associated membrane protein (LAMP2), and in particular the LAMP2B version of the gene which is primarily expressed in heart, skeletal muscle and brain tissue.  Affected cells can no longer efficiently digest and recycle protein and other materials, leading to dysfunction in heart, muscle and brain cells.