Jeremy D. C.
- Country
- France
- Department
- Pédiatrie
Research Overview
Data & Insights
Has run more than one trial at 0 of 5 partner sites.
Specializations
Hereditary Transthyretin Amyloidosis
Investigation of disease mechanisms and therapeutic strategies for hereditary transthyretin amyloidosis affecting peripheral nerves and the heart.
- ATTRv polyneuropathy
- ATTR cardiomyopathy
- TTR gene silencing therapies
- Stabilizer molecules for transthyretin
Emphasis on early diagnosis and disease‑modifying interventions in adult and pediatric populations.
Genetic Liver Metabolic Disorders
Clinical studies targeting inherited disorders of hepatic metabolism such as alpha‑1 antitrypsin deficiency and glycogen storage disease type II.
- Alpha‑1 antitrypsin deficiency liver disease
- Glycogen storage disease management
- Hereditary angioedema hepatic involvement
- Metabolic liver disease biomarkers
Integration of genotype‑driven treatment pathways within the pediatric setting.
Pediatric Metabolic Liver Disease and Transplantation
Focus on severe metabolic liver conditions in children and outcomes of liver transplantation.
- Neonatal cholestasis
- Metabolic liver failure in infants
- Liver transplant eligibility criteria
- Post‑transplant graft function monitoring
Collaborative care across the two affiliated research sites enhances longitudinal patient tracking.
Rare Neuromuscular and Mitochondrial Disorders
Exploration of neuromuscular diseases linked to metabolic dysfunction, including Friedreich ataxia and mitochondrial DNA mutations.
- Friedreich ataxia cardiac involvement
- Mitochondrial myopathy therapies
- Myotonic dystrophy metabolic aspects
- Peripheral neuropathy in metabolic disorders
Multidisciplinary assessment bridges neurology and hepatology expertise.
Autoimmune and Inflammatory Hepatic Conditions
Clinical evaluation of immune‑mediated liver diseases such as primary biliary cholangitis and autoimmune hepatitis.
- Primary biliary cholangitis treatment response
- Autoimmune hepatitis immunosuppression strategies
- Systemic lupus erythematosus hepatic manifestations
- Inflammatory hepatic vasculitis
Research aligns with broader autoimmune disease programs within the institution.
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