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Common Rare Orthopedic Diseases
- Osteogenesis Imperfecta,OI
- Achondroplasia
- Fibrodysplasia Ossificans Progressiva, FOP
- Marfan Syndrome
- Melorheostosis
- X-linked Hypophosphatemia, XLH
- Paget's Disease of Bone
- amyotrophic lateral sclerosis, ALS
- spinal muscular atrophy, SMA
- Rare Bone Tumors
- Klippel-Trenaunay Syndrome
- Ehlers-Danlos Syndrome, EDS
- Ultimate Guide to Rare Orthopedic Diseases Research Services
- Special Technology Service Platform
Klippel-Trenaunay Syndrome
Klippel-Trenaunay Syndrome (KTS) is a rare congenital disorder affecting blood vessels, soft tissue, and bones, often linked to PIK3CA gene mutations. Protheragen spearheads KTS research by working with leading experts to explore its genetic and molecular foundations, developing therapies that improve patient quality of life.
Characteristics of Klippel-Trenaunay Syndrome
KTS presents a wide range of clinical features that vary significantly among individuals. Key characteristics include port-wine stains, soft tissue and bone hypertrophy, and vascular anomalies, leading to limb size discrepancies and potential mobility challenges. The disorder is primarily linked to mutations in the PIK3CA gene, which are vital in understanding the disease's variability and progression.
Advancements in Diagnosis and Treatment
Diagnostics Progress
- Genetic Testing: Progress in genetic testing enables the accurate identification of PIK3CA mutations, enhancing diagnostic accuracy and potentially allowing for earlier detection and understanding of KTS and related overgrowth syndromes.
Treatment Advances
- Medication and Therapy: Current management strategies focus on alleviating symptoms through medications and physical therapy, aiming to improve mobility and quality of life for patients.
- Gene and Stem Cell Research: Cutting-edge research in gene therapy and regenerative medicine explores innovative treatments targeting the genetic and cellular aspects of KTS, with the goal of correcting vascular and tissue abnormalities caused by PIK3CA mutations.
Fig. 1 Kyphoscoliosis with Klippel-Trenaunay syndrome. (Zhai J, et al., 2019)Our Services
Diagnostic Method Development Services for KTS
- Imaging Technologies: Optimize techniques like high-frequency ultrasound, MRI, and CT scans for improved diagnostic accuracy. Develop novel imaging markers for early detection of KTS-related abnormalities.
- Genetic Testing: Offer detection of PIK3CA mutations using advanced methods like droplet digital PCR. Develop multi-gene panels for broader mutation screening.
- Biomarkers: Research biomarkers in blood and tissue for aiding diagnosis and monitoring disease progression.
Therapy Development Services for KTS
- Drug Development: Develop targeted therapies such as PI3K/mTOR inhibitors for treating vascular malformations and explore anticoagulants and anti-inflammatories for complication prevention.
Model Development Services for KTS
- Animal Models: Develop PIK3CA-mutant mice and large animal models to study KTS pathology and test treatments.
- Cell Models: Establish iPSC models from KTS patients and 3D tissue models for research and drug screening.
- Computational Models: Build simulations to predict disease progression and outcomes, and develop AI tools for diagnostic support and treatment planning.
Protheragen is committed to pioneering innovation and research in Klippel-Trenaunay Syndrome. Contact us today to discover how our comprehensive services can support your research efforts, paving the way for groundbreaking advancements in understanding and treating KTS.
Reference
- Zhai J, et al. Kyphoscoliosis with Klippel-Trenaunay syndrome: a case report and literature review. BMC Musculoskelet Disord. 2019 Jan 5;20(1):10.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.
