Cell & Gene Therapy

Aromatic l-amino acid decarboxylase (AADC) deficiency is a very rare genetic disorder affecting the formation of important neurotransmitters, including epinephrine, norepinephrine, dopamine, and serotonin. Typically becoming apparent in the early months after birth, patients with AADC exhibit a wide range of neurological and non-neurological symptoms. These can lead to a series of complications, and most patients sadly do not reach adulthood. While the disease remains thankfully incredibly rare, with fewer than 350 cases recorded in the medical literature, the development of treatments targeting AADC remains high on the priority list due to its catastrophic consequences.

Quantics have been involved in the development and validation of bioassays designed to support the production and release of a gene therapy targeting AADC. This included supporting the design of a potency assay to determine dopamine release resulting from treatment. This assay was then validated for regulatory use.

Sickle-cell disease is a genetic disorder which most frequently affects those of sub-Saharan African, Indian, Arabian, and Mediterranean ancestry. More than 500,000 infants are born with the disorder annually, with the majority on the African continent. Sickle-cell disease affects the oxygen-carrying molecule haemoglobin, found in red blood cells, causing it to clump together. This results in cells which are rigid and eponymously crescent-shaped, causing a range of unpleasant and often painful symptoms. The disease’s prevalance and life-altering effects have led to the development of several cell therapies aiming to treat the disorder by editing a patient’s stem cells to remove the affected gene.

QuBAS, the bioassay statistics software package developed and maintained by Quantics, has been deployed to analyse bioassays in support of several of these therapies. The all-in-one package is uniquely suited to providing rapid, robust results throughout the bioassay development cycle, from the earliest stages of development through to validation and production.

CAR-T Cell therapy is a method of modifying immune cells to target a specifically chosen protein – known as an antigen – on the surface of a cell. While CAR-T therapy can be deployed to target several conditions, the technique is particularly useful for attacking certain cancers which are difficult or impossible to treat surgically, such as leukemia and multiple myeloma.

Quantics’ bioassay statistics team have been involved in several projects developing CAR-T cell therapies. Bioassays form a crucial part of developing and testing a CAR-T therapy as a method of testing important properties, such as vector potency and cytotoxicity. The team have been instrumental to supporting several CAR-T bioassays throughout the bioassay development lifecycle.

Stargardt disease is a rare genetic eye disease which causes the build up of fatty materials on the retina due to a defect in how the body uses vitamin A in retinal cell production. This results in progressive vision loss, which often begins in childhood.

Quantics has been involved in the development of a leading treatment for Stargardt disease, specifically in examining statistically the effectiveness of two different methods of determing vector titres. This method comparison included sample size calculations, determination of acceptance criteria and equivalence limits, protocol review, and the analysis required for the final result.