Acute intermittent porphyria is a rare systemic metabolic disorder that can affect various regions of the body. The most frequent gastrointestinal symptom is abdominal pain, which occurs in more than 80% of individuals. Protheragen is a leading innovation in the research of acute intermittent porphyria and other rare gastrointestinal disorders. Our firm specializes as a preclinical research service provider that strives to facilitate pharmaceutical research and development by providing an extensive range of preclinical services covering the entire research phase.

Overview of Acute Intermittent Porphyria

Acute intermittent porphyria is a disorder that is inherited in an autosomal dominant fashion and has a very low chance of penetrance and a wide range of features. The prevalence rate of this disease is estimated to be 5 to 10 per 100,000 individuals with only 1% of the population at risk suffering from acute attacks. Symptoms of this condition acute intermittent porphyria, usually present as intermittent acute episodes. The most frequent symptoms during the attacks are abdominal pain, nausea, vomiting, constipation, hypertension, and tachycardia.

Fig.1 The diverse manifestations of acute intermittent porphyria. (Kizilaslan, E. Z., et al., 2023)

Pathogenesis of Acute Intermittent Porphyria

Acute intermittent porphyria is a rare inherited metabolic disorder with an autosomal dominant mode of inheritance that disturbs the normal heme biosynthesis. It is marked by the absence or abnormality of the hepatic enzyme hydroxymethylbilane synthase (HMBS), which is also known as porphobilinogen deaminase (PBGD), the third enzyme of the heme biosynthesis pathway. Any impediment or insufficiency within the context of the heme biosynthesis subsystem will stimulate ALA synthase-1 upregulation such that toxic heme precursors aminolevulinic acid (ALA) and porphobilinogen (PBG) are produced and accumulated within the liver.

Fig.2 Gene therapy for acute intermittent porphyria. (Kizilaslan, E. Z., et al., 2023)

Therapeutics Development for Acute Intermittent Porphyria

Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.

Our Services

An integrated approach of our company opens with the diagnostic study seeking new disease biomarkers and developing effective modern diagnostic systems. We also specialize in therapeutic research where we partner with prominent scientists to investigate new therapy approaches. To ensure our research is up-to-date and precise, we also develop advanced disease models that closely represent real human ailments which offers significant understanding of disease development and response to therapy.

Therapeutic Development Services

• Small Molecule Drug
• Cell Therapy Development
• Gene Therapy Development
• Therapeutic Antibody

• Therapeutic Peptide
• Therapeutic Protein
• Microbiome Therapeutic
• More

Animal Model Development Services for Acute Intermittent Porphyria

Disease models are essential for the studies of rare gastrointestinal diseases. Drug research is driven by the in-depth analysis of the mechanisms, biology, pathobiology, and progression of disease phenomena, so animal models are critical. At our company, we know that every rare gastrointestinal disease has its own complexities and offer bespoke animal model creation services for conditions like acute intermittent porphyria.

Induced Model Development

The administration of phenobarbital can affect the metabolic pathway involved in heme synthesis and mimic the biochemical imbalances observed in acute intermittent porphyria individuals.

Optional models: Phenobarbital-induced model, etc.

Genetically Engineering Model

Constructing genetically engineered animal models for acute intermittent porphyria generally involves mimicking the human condition by targeting the PBGD gene.

Optional models: Hepatic PBGD knockdown model, HMBS knockout model, etc.

As a supplement to core services, Protheragen provides vital preclinical assessments such as pharmacokinetics and drug safety evaluation. From transformative research to therapeutic development, select us as your trusted partner. Our focus is making a difference in the lives of individuals who suffer from these rare diseases by integrating scientific discovery with its practical application. For more granular information about these diseases and the services we offer, do not hesitate to contact us.

Reference

• Kizilaslan, Esma Z et al. "Acute Intermittent Porphyria's Symptoms and Management: A Narrative Review." Cureus 15.3 (2023): e36058.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.