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Accelerating Rare Disease Drug Development Through Translational Research
Generating Translational Data to Advance Rare and Orphan Disease Development
Franklin Biolabs is a preclinical CRO supporting biotechnology and pharmaceutical companies developing therapies for rare and orphan diseases. Our scientific team provides translational research services across genetic disorders, lysosomal storage diseases, neuromuscular disorders, metabolic diseases, rare neurodevelopmental conditions, and other underserved patient populations. By integrating disease-relevant animal models, advanced bioanalysis, biomarker strategies, pharmacokinetics/pharmacodynamics (PK/PD), imaging, pathology, and functional assessments, we help sponsors generate the data needed to move rare disease programs confidently through development.
Advancing Therapies for Rare and Orphan Diseases
Rare disease development presents unique challenges, including limited patient populations, complex genetics, reduced clinical data availability, and the need for highly translational preclinical endpoints. Franklin Biolabs partners with sponsors to design and execute customized studies that generate robust efficacy, mechanistic, and biomarker data to support critical development decisions.
From early proof-of-concept through candidate selection and IND-enabling studies, we provide the scientific expertise and flexibility required to advance therapies targeting rare and orphan diseases.
In Vivo Pharmacology
Assessing Activity in Rare Disease Models
Preclinical studies for rare and orphan diseases often require model systems that reflect a specific genetic, biochemical, or physiological condition. Franklin Biolabs designs in vivo pharmacology studies to evaluate treatment effects, explore dose relationships, and examine target engagement in models selected for their relevance to the disease being studied.
Study design is adapted to the program, with attention to endpoints that can support interpretation of efficacy and disease progression. These studies may be used to inform early development decisions, compare candidate compounds, or support preparation for later-stage nonclinical work.
Our capabilities include:
- Proof-of-concept efficacy studies
- Dose-ranging and dose-response studies
- Assessment of disease progression or change over time
- Study design and protocol development
- Rare disease-relevant rodent models
- Genetically modified or transgenic models
- Longitudinal study formats
Drug Delivery & Administration
Administering Therapies in Specialized Models
Rare disease programs may involve delivery routes chosen to match the target tissue, therapeutic modality, or model system. Franklin Biolabs supports administration procedures for studies involving small molecules, biologics, gene-based therapies, and other advanced platforms.
Our capabilities include:
- Systemic administration
- Local administration approaches where appropriate
- Intraparenchymal administration
- Intracerebroventricular administration
- Intra-cisterna magna administration
- Intrathecal administration
- High throughput intracerebroventricular dosing in rodents
- Support for viral and non-viral delivery systems
Behavioral & Functional Assessment
Evaluating Functional Outcomes
Functional readouts can be important in rare disease research, particularly when the condition affects movement, cognition, sensation, or daily function. Franklin Biolabs provides behavioral and functional assessment services to evaluate treatment-related changes in disease models where these measures are relevant.
These assessments can be interpreted alongside biomarker, imaging, and tissue-based findings to provide a broader view of study outcomes and support internal decision-making.
Our capabilities include:
- Learning and memory testing
- Cognitive assessment
- Motor function testing
- Sensory and pain-related measures
- Neuromuscular or coordination-based testing
- Disease-specific functional endpoints
Bioanalysis, Biomarkers & PK/PD
Relating Exposure to Biological Response
Many rare disease studies depend on limited sample volumes and carefully selected translational endpoints. Franklin Biolabs provides bioanalysis, biomarker work, and PK/PD evaluation to help clarify drug exposure, target engagement, and biological response.
This work can include assay support, exposure-response analysis, and biomarker selection for studies intended to describe how a therapy behaves in vivo.
Our capabilities include:
Pharmacokinetics & Pharmacodynamics
- PK analysis
- PD assessment
- Exposure-response analysis
- Target engagement evaluation
Biomarker Analysis
- Translational biomarker selection
- Plasma and tissue biomarkers
- CSF biomarkers, where relevant
- Disease-pathway biomarker analysis
Bioanalysis
- Plasma and tissue bioanalysis
- LC-MS/MS drug quantification
- Biodistribution studies
Immunogenicity
- ADA testing
- Humoral immune response
- Cellular immune response
- Titer assays
- Shedding studies
Preclinical Imaging
Supporting In Vivo Assessment
Imaging can provide a non-invasive way to follow therapeutic distribution, anatomical change, or treatment response in selected rare disease models. Franklin Biolabs offers preclinical imaging services that can be used with efficacy, biodistribution, and procedural studies.
Imaging data may also be used to monitor the same subject over time, which can be useful when sample sizes are limited or longitudinal assessment is important.
Our capabilities include:
- MRI
- Fluoroscopy
- Longitudinal imaging assessments
- Imaging biomarker evaluation
- Image-guided procedures
Toxicology & Safety Pharmacology
Evaluating Safety Findings
Safety studies remain an important part of nonclinical development, including programs for rare and orphan diseases. Franklin Biolabs supports toxicology and safety pharmacology studies designed to assess potential effects on physiology, behavior, and organ systems.
Our capabilities include:
- Safety pharmacology studies
- General toxicology studies
- Organ- or system-specific safety assessments
- Study support for nonclinical development packages
Neuropathology & Tissue Analysis
Characterizing Tissue-Level Effects
Tissue analysis can help define disease features and evaluate treatment-related changes in rare disease models. Franklin Biolabs provides histology-based services that support review of morphology, pathology, inflammation, degeneration, and biomarker expression.
These studies can be used to better understand treatment effects at the tissue and cellular level and to place other data findings in context.
Our capabilities include:
- Histopathology
- Immunohistochemistry (IHC)
- Tissue biomarker analysis
- Disease pathology assessment
- Quantitative pathology
- Cellular characterization
- Tissue analysis across relevant organs
In Vivo Pharmacology
Assessing Activity in Rare Disease Models
Preclinical studies for rare and orphan diseases often require model systems that reflect a specific genetic, biochemical, or physiological condition. Franklin Biolabs designs in vivo pharmacology studies to evaluate treatment effects, explore dose relationships, and examine target engagement in models selected for their relevance to the disease being studied.
Study design is adapted to the program, with attention to endpoints that can support interpretation of efficacy and disease progression. These studies may be used to inform early development decisions, compare candidate compounds, or support preparation for later-stage nonclinical work.
Our capabilities include:
- Proof-of-concept efficacy studies
- Dose-ranging and dose-response studies
- Assessment of disease progression or change over time
- Study design and protocol development
- Rare disease-relevant rodent models
- Genetically modified or transgenic models
- Longitudinal study formats
Drug Delivery & Administration
Administering Therapies in Specialized Models
Rare disease programs may involve delivery routes chosen to match the target tissue, therapeutic modality, or model system. Franklin Biolabs supports administration procedures for studies involving small molecules, biologics, gene-based therapies, and other advanced platforms.
Our capabilities include:
- Systemic administration
- Local administration approaches where appropriate
- Intraparenchymal administration
- Intracerebroventricular administration
- Intra-cisterna magna administration
- Intrathecal administration
- High throughput intracerebroventricular dosing in rodents
- Support for viral and non-viral delivery systems
Behavioral & Functional Assessment
Evaluating Functional Outcomes
Functional readouts can be important in rare disease research, particularly when the condition affects movement, cognition, sensation, or daily function. Franklin Biolabs provides behavioral and functional assessment services to evaluate treatment-related changes in disease models where these measures are relevant.
These assessments can be interpreted alongside biomarker, imaging, and tissue-based findings to provide a broader view of study outcomes and support internal decision-making.
Our capabilities include:
- Learning and memory testing
- Cognitive assessment
- Motor function testing
- Sensory and pain-related measures
- Neuromuscular or coordination-based testing
- Disease-specific functional endpoints
Bioanalysis, Biomarkers & PK/PD
Relating Exposure to Biological Response
Many rare disease studies depend on limited sample volumes and carefully selected translational endpoints. Franklin Biolabs provides bioanalysis, biomarker work, and PK/PD evaluation to help clarify drug exposure, target engagement, and biological response.
This work can include assay support, exposure-response analysis, and biomarker selection for studies intended to describe how a therapy behaves in vivo.
Our capabilities include:
Pharmacokinetics & Pharmacodynamics
- PK analysis
- PD assessment
- Exposure-response analysis
- Target engagement evaluation
Biomarker Analysis
- Translational biomarker selection
- Plasma and tissue biomarkers
- CSF biomarkers, where relevant
- Disease-pathway biomarker analysis
Bioanalysis
- Plasma and tissue bioanalysis
- LC-MS/MS drug quantification
- Biodistribution studies
Immunogenicity
- ADA testing
- Humoral immune response
- Cellular immune response
- Titer assays
- Shedding studies
Preclinical Imaging
Supporting In Vivo Assessment
Imaging can provide a non-invasive way to follow therapeutic distribution, anatomical change, or treatment response in selected rare disease models. Franklin Biolabs offers preclinical imaging services that can be used with efficacy, biodistribution, and procedural studies.
Imaging data may also be used to monitor the same subject over time, which can be useful when sample sizes are limited or longitudinal assessment is important.
Our capabilities include:
- MRI
- Fluoroscopy
- Longitudinal imaging assessments
- Imaging biomarker evaluation
- Image-guided procedures
Toxicology & Safety Pharmacology
Evaluating Safety Findings
Safety studies remain an important part of nonclinical development, including programs for rare and orphan diseases. Franklin Biolabs supports toxicology and safety pharmacology studies designed to assess potential effects on physiology, behavior, and organ systems.
Our capabilities include:
- Safety pharmacology studies
- General toxicology studies
- Organ- or system-specific safety assessments
- Study support for nonclinical development packages
Neuropathology & Tissue Analysis
Characterizing Tissue-Level Effects
Tissue analysis can help define disease features and evaluate treatment-related changes in rare disease models. Franklin Biolabs provides histology-based services that support review of morphology, pathology, inflammation, degeneration, and biomarker expression.
These studies can be used to better understand treatment effects at the tissue and cellular level and to place other data findings in context.
Our capabilities include:
- Histopathology
- Immunohistochemistry (IHC)
- Tissue biomarker analysis
- Disease pathology assessment
- Quantitative pathology
- Cellular characterization
- Tissue analysis across relevant organs
Franklin Biolabs supports drug discovery and development programs across a broad spectrum of Rare and Orphan Disease indications, including:
- Gene replacement therapies
- Gene editing approaches
- RNA-targeted therapeutics
- Inherited genetic diseases
- Batten disease
- Rett syndrome
- Angelman syndrome
- Dravet syndrome
- Fragile X syndrome
- Rare epilepsies
- Duchenne muscular dystrophy (DMD)
- Becker muscular dystrophy
- Spinal muscular atrophy (SMA)
- Congenital myopathies
- Pompe disease
- Gaucher disease
- Fabry disease
- Tay-Sachs disease
- Sandhoff disease
- Mucopolysaccharidoses (MPS)
- Inborn errors of metabolism
- Rare mitochondrial diseases
- Rare endocrine disorders
- Multi-organ genetic diseases
- AAV gene therapies
- Viral vector-based therapeutics
- Oligonucleotide therapies
- mRNA therapeutics
- Enzyme replacement therapies
- Cell-based therapies
Why Franklin Biolabs?
Rare Disease Expertise
- We understand the scientific and operational challenges associated with orphan and ultra-rare disease development.
Customized Study Design
- Every study is tailored to the biology, mechanism of action, and development objectives of your program.
Translational Focus
- We prioritize data that improves confidence in development decisions and helps bridge preclinical findings to clinical outcomes.
Scientific Partnership
- Work directly with experienced scientists committed to helping advance therapies for patients with limited treatment options.
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The cell and gene therapy industry in the Philadelphia area is vibrant and exciting, bolstered by a robust ecosystem. Join the Franklin Biolabs team for a fulfilling career in a leading life sciences hub.
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