Lentiviral Vector for Adrenoleukodystrophy Gene Therapy

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Solution Overview

Problem

Current treatments for adrenoleukodystrophy, such as allogeneic hematopoietic stem cell transplantation, are risky and inefficient, with high risks of graft failure and graft-versus-host disease, and require lengthy donor matching processes, which are problematic due to the rapid progression of the disease.

Innovation Solution

Development of a lentiviral vector comprising specific components like HIV-1 LTR, Psi packaging signal, cPPT/FLAP, RRE, and a MND promoter operably linked to a cDNA encoding the ABCD1 polypeptide, which is used to transduce hematopoietic stem cells to produce functional ALDP, thereby addressing the disease's underlying metabolic defect.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Reliability

If allogeneic hematopoietic stem cell transplantation is used to treat adrenoleukodystrophy, then functional ALDP can be supplied to replace defective protein, but there is high risk of graft failure and graft-versus-host disease

Engineering Contradiction:
Improvetreatment effectivenessVSAvoidgraft failure and graft-versus-host disease risk
Core Design Contradiction:
ReliabilityVSObject-affected harmful factors

Solution Approach 1:

The patent uses a lentiviral vector as an intermediary carrier to deliver the functional ABCD1 gene into the patient's own hematopoietic stem cells. This viral vector mediates the gene transfer process, allowing the therapeutic gene to be introduced without requiring allogeneic stem cell transplantation, thereby avoiding graft rejection and graft-versus-host disease while still achieving functional ALDP production

Inventive Principle:
Principle #24Intermediary (Mediator)

Solution Approach 2:

The patent employs the patient's own hematopoietic stem cells as the therapeutic vehicle. By genetically modifying the patient's autologous stem cells with the functional ABCD1 gene and then reinfusing them, the treatment uses the patient's own cellular system to produce and secrete functional ALDP, eliminating the need for donor cells and avoiding all complications associated with allogeneic transplantation

Inventive Principle:
Principle #25Self-service

2Reliability

If allogeneic stem cell transplantation is performed to treat adrenoleukodystrophy, then disease progression can be halted, but the process requires 12 to 18 months for stabilization which is too long given the rapid disease progression

Engineering Contradiction:
Improvedisease stabilizationVSAvoidtime to disease stabilization
Core Design Contradiction:
ReliabilityVSLoss of time

Solution Approach 1:

The patent performs preliminary genetic modification of the patient's hematopoietic stem cells ex vivo before transplantation. The functional ABCD1 gene is introduced and expressed in the stem cells prior to reinfusion, so that therapeutic ALDP production begins immediately upon engraftment rather than waiting for donor cell colonization and differentiation, significantly reducing the time to achieve disease stabilization

Inventive Principle:
Principle #10Preliminary action

Solution Approach 2:

The patent replaces the complex biological process of allogeneic stem cell engraftment and donor cell differentiation (which takes 12-18 months) with a more direct approach: genetic modification of patient's own cells ex vivo followed by immediate reinfusion. This substitutes the slow in vivo donor cell colonization process with a faster ex vivo gene transfer and immediate engraftment of pre-modified cells

Inventive Principle:
Principle #28Mechanics substitution (Replace mechanical system)

3Adaptability or versatility

If unrelated donors are used for allogeneic hematopoietic stem cell transplantation, then treatment can be provided when related donors are unavailable, but the risk of graft failure and graft-versus-host disease increases

Engineering Contradiction:
Improvedonor availabilityVSAvoidgraft failure and graft-versus-host disease incidence
Core Design Contradiction:
Adaptability or versatilityVSObject-affected harmful factors

Solution Approach 1:

The patent eliminates the need for any donor (related or unrelated) by using the patient's own autologous hematopoietic stem cells. The patient's cells are harvested, genetically modified with the functional ABCD1 gene, and reinfused back into the patient. This self-service approach provides universal adaptability since every patient has their own compatible cells, while simultaneously eliminating all graft rejection and graft-versus-host disease risks associated with unrelated donors

Inventive Principle:
Principle #25Self-service

Data Source

PatentEP2717922B1Gene therapy vectors for adrenoleukodystrophy and adrenomyeloneuropathy
Publication Date: 2018.09.12 BLUEBIRD BIO INC
  • EP2717922B1 patent drawingFigure 1
  • EP2717922B1 patent drawingFigure 2
  • EP2717922B1 patent drawingFigure 3

AI summary

The present invention provides compositions ccomprising retroviral vectors, transduced cells, and methods of using the same for gene therapy. In particular, the present invention relates to lentiviral vectors and cells transduced with those vectors to provide gene therapy to subjects having an adrenoleukodystrophy and/or adrenomyeloneuropathy.