Positive results for patients enrolled in CIRM-funded trial of a rare pediatric disease

Leukocyte Adhesion Deficiency-I (LAD-I) is a rare pediatric disease that prevents patients from combating infections. This leads to recurring bacterial and fungal infections that respond poorly to antibiotics, require frequent hospitalizations, and can be fatal. It is caused by a mutation in a specific gene that causes low levels of a protein called CD18. The low levels of CD18 affect the immune system’s ability to work efficiently and reduces the body’s ability to combat infections.

Rocket Pharmaceuticals is conducting a CIRM-funded ($6.56 M) clinical trial that is testing a treatment that uses a gene therapy called RP-L201. The therapy uses a patient’s own blood stem cells and inserts a corrected version of the mutated gene.  These modified stem cells are then reintroduced back into the patient. The goal is to establish functional immune cells, enabling the body to combat infections. Previous studies have indicated that an increase in CD18 expression to 4-10 percent is associated with survival into adulthood. 

Rocket presented promising results from four patients enrolled in the trial at the Clinical Immunology Society 2021 Annual Meeting.

Patient 1001 was 9 years-of-age at enrollment and had been followed for 18-months after treatment. Patient 1004 was 3 years-of-age at enrollment and had been followed for 9-months. Patients 2006 and 2005 were 7 months- and 2 years-of-age at enrollment and had been followed for 3-months.

Key findings from trial include the following:

  • RP-L201 was well tolerated and no safety issues reported with infusion or treatment.
  • Patient 1001 demonstrated CD18 expression of about 40 percent and resolution of skin lesions with no new lesions reported 18-months post-treatment.
  • Patient 1004 demonstrated CD18 expression of about 28 percent 9-months post-treatment.
  • Patient 2006 demonstrated CD18 expression of about 70 percent 3-months post-treatment.
  • Patient 2005 demonstrated CD18 expression of about 51 percent 3-months post-treatment.

In a news release, Jonathan Schwartz, M.D., Chief Medical Officer and Senior Vice President of Rocket expressed optimism for these findings.

“Today’s positive updates on our LAD-I program add to the growing body of encouraging evidence that RP-L201 may provide durable clinical benefit for patients with severe LAD-I who face recurrent, life-threatening infections from birth.”

To access the poster used for this presentation, visit Rocket’s website linked here.

One thought on “Positive results for patients enrolled in CIRM-funded trial of a rare pediatric disease

  1. Gene therapy is a treatment for any disorder or pathophysiologic state bases upon the transfer of a normal copy of a single defective gene would revert the disease pathogenesis or even prevent the development of disease. The genetic intervention tool is highly recommended to the patients with inherited metabolic genetic disorders, when protein based replacement strategies have proved therapeutically suboptimal. However, evidence proved that introducing of foreign DNA into cell can trigger transformation event into developing of neoplastic and cancer cell. Thus, altering the genetic organization and structure of cell are potential cancer causing factors. Both factors produce greater impacts on regulation and functional of nucleus cell. The alterations of nucleus function may elicit the process of mutation in genetic level of cell. Therefore, long-term follow up to the patients with gene therapy is recommended to avoid the patients from developing unexpected deteriorate condition in future.

    Gene therapy requires gene transfer vectors to deliver the therapeutic gene to the relevant target cell. Different vectors have different characteristics of DNA-carrying capacity, targeted cell types, duration and defined levels of expression. Humans in different stages of development have different requirement for growth hormones and factors. However, the levels of therapeutic gene expression is consistantly controlled by insertion promoter of viral vector. Those patients may eventually experience various levels of clinical deleterious outcome after several years of recovery.

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