New Data Available on RP-L301 for Pyruvate Kinase Deficiency 


Rocket Pharmaceuticals, Inc. (“Rocket”) has dedicated its mission to developing gene therapy solutions for rare childhood conditions. Recently, the company shared the publication of preliminary data from a Phase 1 clinical trial evaluating RP-L301 for pyruvate kinase deficiency.


The first point of discussion: what is RP-L301? According to Rocket, his lentiviral vector (LVV) gene therapy:

is currently being developed for PKD, a rare blood disorder characterized by excessive rupture of red blood cells, resulting in frequent, chronic anemia that may be severe or life-threatening for some patients.

Gene Therapy Net describes LVVs as:

a genus of the Retroviridae family, characterized by a long incubation period. Lentiviruses can deliver a significant amount of genetic information into the DNA of the host cell, so they are one of the most efficient methods of a gene delivery vector.

In the data from the Phase 1 clinical trial, RP-L301 was shown to be beneficial for patients with PKD. 2 patients enrolled. This data also includes 3-6 months of follow-up information. Some findings include:

  • RP-L301 was relatively safe and well-tolerated. No patients experienced any complications related to the transfusion.
  • One patient received 3.9×106 cells/kg RP-L301. Within 6 months, this helped to normalize hemoglobin and reduce excess bilirubin levels.
  • The second patient received 2.4×106 cells/kg RP-L301. During the 3 month follow-up period, this patient’s hemoglobin and bilirubin levels were also normalized.

Interested in learning more about this clinical trial? Click here.

Pyruvate Kinase Deficiency

According to the National Organization of Rare Disorders (NORD), pyruvate kinase deficiency is:

a rare genetic disorder characterized by the premature destruction of red bloods, which is called hemolytic anemia. Anemia is a general term for when there are low levels of red blood cells in the bloodstream, and hemolytic (or hemolysis) means that the red blood cells break down prematurely.

PKLR gene mutations cause PKD. Normally, PKLR encodes for pyruvate kinase, an enzyme which helps turn glucose into energy. Normally, red blood cells rely on this glycolysis process. But when this process is interrupted, it causes red blood cells to be destroyed. Symptoms and severity vary from person to person. However, some symptoms may include:

  • Pallor (pale skin)
  • Jaundice (yellowing of the skin and eyes)
  • Rapid heart rate
  • Extreme fatigue
  • Shortness of breath
  • Spleen enlargement
  • Dark-colored urine
  • Gallstones
  • Slow growth (in children)
  • Dizziness
  • Irritability
Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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