Rare Childhood Disease Research Service Provider
One-Stop Preclinical R&D Services for Rare Childhood Diseases
Welcome to Protheragen, a research service provider immersed in the realm of rare childhood disease research, specializing in providing research services on rare disease pathogenesis, preclinical drug discovery and therapy development. We offer a full range of research services including, but not limited to, biomarker discovery, in vitro and in vivo model development, custom assay design, pharmacokinetic analysis, and safety assessment.
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Current Research on Rare Diseases in Children
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Haemophilia
Bleeding disorders due to clotting factor deficiencies may result in bleeding in joints, muscles, internal organs, and other areas. -
Albinism
A congenital disorder of melanin synthesis in which the patient lacks melanin in the skin, hair and eyes. -
Phenylketonuria
A disorder of amino acid metabolism that requires special dietary treatment. -
Duchenne muscular dystrophy (DMD)
DMD causes weakness and muscle atrophy that spreads throughout the child's body, and the ability to walk independently will be lost. -
Osteogenesis imperfecta (OI)
A genetic disorder that affects the strength of bones. Children with OI may have soft bones that break easily and may not develop normally. -
Krabbe disease
A rare genetic disorder that affects the myelin sheath that covers and protects nerve cells, leading to neurological problems. -
Jeune syndrome
A rare genetic condition that causes chest wall deformities in children. -
Epidermolysis bullosa (EB)
A group of rare genetic diseases that cause very fragile skin. -
Thymidine kinase 2 deficiency (TK2d)
Early-onset TK2d develops before the age of 1-4 years and affects the parts of the body that need the most energy - the muscles, heart and brain. -
Alpha-thalassemia (A-THAL)
An inherited blood disorder that affects the body's ability to produce enough hemoglobin. -
Purpura fulminans (PF)
An acute purpuric rash characterized by bleeding and gangrenous necrosis of the skin. -
Pitt-Hopkins syndrome (PTHS)
A rare genetic disorder that causes developmental, intellectual and physical changes in children. -
Severe combined immune deficiency (SCID)
A severe primary immunodeficiency disease characterized by concurrent loss of T and B cell function resulting in high susceptibility to bacterial, viral, fungal and opportunistic pathogens. -
Tourette syndrome (TS)
A neurodevelopmental disorder characterized by unconscious repetitive motor and vocal tics. -
Alpha-1 antitrypsin deficiency (AATD)
A rare genetic disorder caused primarily by mutations in the SERPINA1 gene that result in decreased levels or abnormal function of alpha-1 antitrypsin (AAT) in the body. -
CANDLE syndrome
A rare inherited autoinflammatory disease characterized by recurrent episodes of autoinflammation manifested by fever, skin lesions, arthralgia and muscle weakness. -
Chronic granulomatous disease (CGD)
A rare genetic disorder that prevents patients from effectively eliminating bacterial and fungal infections, resulting in frequent severe infections and granulomatous inflammation. -
Primary ciliary dyskinesia (PCD)
A rare genetic disorder that affects the movement of cilia in the epithelial cells of the respiratory tract, resulting in impaired mucus clearance. -
Urea cycle disorders (UCD)
A rare genetic disorder characterized by defects in enzymes or transport proteins involved in the urea cycle.Read more
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Bare lymphocyte syndrome (BLS)
A rare inherited immunodeficiency disorder characterized by a lack of expression of major histocompatibility complex (MHC) class I or II molecules on the surface of T and B cells.Read more
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Vici syndrome
A rare congenital multisystem disorder characterized by abnormalities in the brain, immune system, heart, skin and eyes.Read more
Comprehensive Research Solutions for Rare Childhood Disease Therapy
Our team has extensive research experience in rare disease and pediatric therapeutic development, and leveraging our expertise allows you to proactively identify and resolve issues before your study is compromised. As a global provider of rare disease research services with a cross-functional collaborative model and extensive experience, our team can support your preclinical development in the following ways.
Pharmacokinetics & Toxicology Evaluation for Rare Childhood Diseases
In Vitro
ADME Services
In Vivo
Pharmacokinetics Services
Drug Safety Evaluation Services
Drug Repurposing Services for Rare Childhood Diseases
Target Identification of Drug Candidates
Screening of Drug Candidates
Preclinical Study
Advanced Research Solutions for Rare Childhood Disease Diagnosis
We have a complete and mature diagnostic reagent development platform, including next-generation sequencing (NGS) platforms, microfluidic single-cell sorting systems, microarray platforms, fluorescence-activated cell sorters, mass spectrometers, big data analytical tools and machine learning algorithms. We provide one-stop diagnostic product development services to help you investigate new strategies for pediatric rare disease diagnosis.
Service Workflow
Prothragen provides experimental services across the early drug discovery and preclinical research process, from early drug discovery, drug to lead compound, lead compound optimization to IND support studies. Working closely with our clients, our multidisciplinary team of experts can provide you with research services tailored to your experimental needs.
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One-on-one client consultation
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Preparation of proposals that clearly define project scope, schedule, and cost
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Experiment execution and data analysis
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Preparation of final report
Our Featured Platforms
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Adeno-Associated Viral Vector Development Platform
We have three major AAV technology platforms that simplify the development process of AAV vectors and enhance their functions.
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Adeno-Associated Viral Vector Development Platform
GeniusAb™: Fully Human Single Domain Antibody Platform
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Why Choose Protheragen for Your Nonclinical Development Program?
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Experienced
Our team consists of experienced professionals with multi-disciplinary expertise to provide a full range of technical support and guidance to our clients.
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Advanced Technical Support
We offer mass spectrometry (MS), nuclear magnetic resonance (NMR), gene sequencing, proteomics and other technologies to help you discover new targets.
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Personalized Services
We design customized basic research or therapeutic development programs for our clients based on specific objectives. We will assign dedicated project teams and ensure that they adhere to detailed study specifications to deliver high-quality data and reliable analysis.
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Economical pricing and fast turnaround times
Our service process is designed to help you efficiently save time and reduce research costs while ensuring data accuracy and reliability.
Frequently Asked Questions (FAQs) About Our Preclinical Research Services
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What types of studies and services do we offer?
Therapeutic study types:
- Small molecule drug development
- Cell therapy development
- Therapeutic antibody development
- Therapeutic peptide development
- Therapeutic protein development
Services types:
- Drug repurposing services
- Rare childhood disease target identification
- Rare childhood disease model development
- drug safety evaluation
- Pharmacokinetic analysis
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What makes we different from our competitors?
Our company specializes in rare childhood diseases and has a team of multi-scientific experts. These specialists have expertise and extensive preclinical research experience in the study of the following diseases:
- Hemophilia
- Albinism
- Phenylketonuria
- Thalassemia
- Glycogen accumulation disorder
- Osteogenesis imperfecta
- Mitochondrial disease
- And more
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What animal models are available for preclinical studies?
Small animal models:
- Rodents – mice, rats, guinea pigs, hamsters
- Nonrodents – ferrets, rabbits
Large animal models:
- Minipigs and pigs
- Canine
- Nonhuman primates
We also provide genetically engineered models (GEM), non-genetically engineered models (NON-GEM), homozygous models, xenotransplantation models, and humanized animal models.
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What ex vivo models are available for preclinical studies?
Cell models: cell lines, primary cells, induced pluripotent stem cells (iPSC) Organoid models: brain, lung, stomach, intestines, liver, kidney and many other organoids -
What can we help if you want to achieve drug repurposing?
- Find or expand indications for your existing drugs
- Identify and rank disease-modifying drug targets
- Propose prognostic and predictive biomarkers
- Provide specific background info on a drug effect/side effect
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Who do you call if you have technical questions about our services?
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.