Rare Diseases CRO Services

There is a number of considerations when developing an assay to monitor a class of biomarkers for orphan or rare diseases. KCAS Bio has validated an assay for 20 amino acids (20-plex) that has been applied to support studies in metabolism and rare disease. KCAS Bio is interested in increasing our suite of biomarker assays. We are happy to develop and qualify custom methods or collaborate on more general assays for rare/orphan diseases.

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Rare disease research, a highly-specialised science

The study of drug development for orphan and rare diseases is a very important, but highly specialized part of our industry. When you get into the cell and gene therapy areas, for instance, you’re dealing with rare diseases and immuno-oncology – those types of therapies have a more specific set of needs, from helping with clinical supply kits, through the whole chain of sample management, to testing the activity of your precious samples to testing the activity of your precious samples – it takes a very specific set of skills and levels of experience. KCAS Bio has the history and expertise to handle your orphan and rare disease studies.

Rare diseases research, by leading scientists

Rare diseases - as the name implies - are diseases that are uncommon and very low in number; affecting maybe one in 30,000, or one in 50,000, or even one in a hundred thousand people. While rare, these are often very debilitating and even life-threatening, typically of genetic nature. Because of their relative obscurity, these are often understudied and/or misunderstood. At KCAS, we understand and often have had experience with therapeutics associated with rare disease.

We understand the immunogenicity space. We understand and can quickly identify what regulatory needs you will face - whether it's in the nonclinical or clinical setting. We can efficiently and with a high quality help you navigate the immunogenicity complexities of rare diseases. Additionally, having been supporting PK assays for 40 plus years, we've got a lot of depth to support the PK. And last but not least, one of our biggest strengths is we can help in the pharmacodynamic and biomarker space.

We employ rigorous quality practices that go beyond our competition. Processes are continuously improved to ensure we consistently deliver a complete outsourcing experience to clients.

KCAS Bio provides high quality science and data services that have benefits for the entire drug development journey.

Understand our approach

Agile, responsive, and easy to work with

We prepare and adapt our rare diseases based on a deep understanding of your drug development ambitions and wider business objectives.

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Affinity Capture Elution
Affinity capture elution (ACE) is a method used in detecting ADA to increase the assay drug tolerance. The method uses acid disassociation of ADA-therapeutic interaction. This allows for preferential capture of ADA by an immobilized version of the dosed therapeutic. A second disassociation step used to enable selective transfer of treated sample to an MSD bridging assay. Following the ACE procedure this assay utilizes biotinylated and ruthenium labeled drug to detect antidrug antibodies.
Bioavailability / Bioequivalence Studies
Bioavailability (BA) is the percentage of a drug (or its pro-drug form) which is absorbed into the general circulation. BA is calculated by comparing the blood concentration profile of test article given intravenously to that given orally or by another administration routes (i.e, transdermal, pulmonary, subcutaneous).
Cell Sorting Services
Cell sorting services are performed with Fluorescence-activated cell sorting (FACS cell sorting) which is a powerful tool used in both basic and clinical research that enables individual cells to be separated from a heterogeneous sample for downstream analysis or therapeutic applications. FACS sorting can be used to separate live cell populations into subpopulations based upon the fluorochrome associated with a detection antibody.
Cellular Phosphoflow Services
Phosphoflow is a specialized application of flow cytometry that enables researchers to examine the phosphorylation status of specific proteins that govern cellular responses through signaling pathways. It has been demonstrated that dysfunction of these cell signaling pathways can play a significant role in the advancement of disease across many areas of medicine, from the disruption of immune responses to microbial infection, to the development of autoimmune diseases and cancer.
Chiral Assay Development, Qualification & Validation
More than half of the drugs currently marketed contain a chiral center. The inclusion of a chiral center can permit a drug molecule to properly fit into a receptor for optimum therapeutic effect. Therefore, stereospecific assays are essential for (1) racemate drug mixtures to document any pharmacokinetic differences between the isomers and (2) an isomericly pure drug to confirm if racemization might occur in vivo.
Flow Cytometry
Flow cytometry is a technique used to detect and measure physical and physiological characteristics of a population of cells or particles. Tens of thousands of cells can be quickly examined and the data gathered is processed by a computer. Uses of flow cytometry can included determination of Cellular characteristics and function, biomarker detection, proliferation, toxicology and diagnosis of health disorders.
Hybrid LC-MS/MS
Hybrid LCMS is a technique which combines an enrichment step (typically an antibody enrichment on beads or columns) with the selectivity and sensitivity provided by LC-MS/MS. Hybrid LC-MS is a complimentary technique to LBA utilized in cases where availability of adequate or optimal reagents are limited. However, there are definite times when this technique has advantages over the traditional LBA, for example when you are translating between species that have different primary sequences.
Immunogenicity Analysis
All biotherapeutics will need to undergo identification of antidrug antibodies sometime in their drug development life cycle. Immunogenicity is analyzed in a tiered approach where samples are first screened, then confirmed, and finally characterized through semi-quantitation (titer). Additional characterization such as domain specificity may also be required.
Method Development
KCAS rapidly develops robust methods for complex matrices.
Method Qualification
A fit-for-purpose approach is used by KCAS in method qualifications. Each method is designed to achieve not only a client’s objectives but budgetary constraints.
Method Transfer
Methods transferred into a new laboratory need to be re-established for regulatory compliance. The extent to which an assay has to be re-validated varies, however, most methods necessitate full validation to demonstrate their reliability.
Method Validation
KCAS has extensive experience in validating methods in a wide range of analytical platforms. Our methods are designed to meet regulatory compliance with FDA and can meet guidelines for other international agencies.
Pharmacodynamic (PD) Analysis
PD Analysis is the assistance with design, regulatory requirements and final data interpretation. Often it can be the difference between the success and failure of a drug. The ever increasing relevance of PD biomarkers is best demonstrated by the 26% success from phase I to acceptance with biomarker Vs 8% without a biomarker.
Pharmacodynamic (PD) Biomarkers
Biomarkers come in many flavors. They can vary from serum/plasma analytes to the measurement of drug pathways. KCAS can assist with your biomarker needs in a variety of ways.
Pharmacokinetic / Toxicokinetic (PK/TK) Analysis
Pharmacokinetics (PK) is the determination of the extent of Absorption, Distribution, Metabolism and Excretion (ADME) of an analyte (ie, small molecule compound, peptide, oligonucleotides, and/or biologics/large molecules). Toxicokinetic (TK) analysis provides bioanalytical support of nonclinical safety and toxicology studies in animals. The goal of TK is to correlate findings of toxicity with a corresponding level of drug exposure.
Preclinical Study Supplies
KCAS’s kit preparation service can provide kits for sample collection for Pre-Clinical/Non-Clinical studies. Kits can include, pre-labeled vacutainer tubes, alcohol swabs, butterfly needles, or sterile syringes and pre-labeled storage cryovials for harvested plasma, serum or other samples. Return shipping containers and other supplies related to sample processing can also be provided.
Tissue bioanalysis
Tissue bioanalysis is an essential area in understanding the extent of drug distribution, metabolism and the regulation of biomarkers. KCAS can develop and validate methods in a wide range of tissues.
Podcast (The Weekly Bioanalysis) Eps #74: “Addressing the Needs of Rare Diseases: Challenges & Trends” Podcasts
Read article Podcast (The Weekly Bioanalysis) Eps #74: “Addressing the Needs of Rare Diseases: Challenges & Trends”

During this episode of “The Weekly Bioanalysis”, Dom and John talk about addressing the needs of rare diseases – some challenges and industry trends they’ve watched take place, and they are joined by guest, Lindsay Rutherford, who has her own personal experience with rare disease and how it can impact…

Considerations for Molecular Bioanalysis in Support of Cell & Gene Therapies Blogs
Read article Considerations for Molecular Bioanalysis in Support of Cell & Gene Therapies

Being that it is a relatively “niche” segment of the industry, there are several key areas that need to be considered in the field of molecular services related to cell and gene therapies. First and foremost, it is important to recognize that regulatory guidelines within this field are…

Is GLP Bioanalysis needed to support your Cell and Gene Therapy GLP Tox Studies? Blogs
Read article Is GLP Bioanalysis needed to support your Cell and Gene Therapy GLP Tox Studies?

Cell and Gene Therapies (CGTs) has an estimated market size value in 2022 of USD 8.22 billion and a revenue forecast in 2030 of USD 24.5 billion. This is a CAGR (compound annual growth rate) of 14.6% from 2022 to 2030. Needless to say, the…

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