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Hemoglobin (human, Hb) protein molecule, chemical structure
Hemoglobin (human, Hb) protein molecule, chemical structure

A corrective therapy for acute intermittent porphyria

Rare genetic disorders are afflicting millions worldwide and often no therapies are available for the patients. Our project team is tacking the challenges of Acute Intermittent Porphyria

Acute intermittent porphyria (AIP) is a dominant hereditary disease. The disease is due to mutations in the gene encoding one of the enzymes involved in the synthesis of heme, hydroksymetyl bilane synthase (HMBS), which is involved in heme synthesis. Heme is vital to humans, as it is necessary for the transportation of oxygen in the blood. AIP can be a very serious disease. Defective HMBS causes the accumulation of heme building blocks (ALA and PBG), which are toxic to the nervous system and can trigger acute, life-threatening neuropsychological attacks.

There is currently a limited range of medical treatment options for AIP patients, and there is therefore an imperative need for new therapeutic alternatives. Pharmacological chaperones (PC) represent an innovative therapeutic approach to the correction of defective enzymes.

Our research team has been noted and recognized for its expertise in the detection and commercial development of PC for a variety of conformational diseases, especially for phenylketonuria (“Føllings sykdom”). We have identified small chemical compounds that increase the level of the HMBS enzyme in cells and in a mouse model of AIP.

In order to develop a PC-based therapy for AIP, we will implement an optimization of these compounds, together with experts, with the goal of producing more potent and better drug candidates. Our team has strong methodological and technological skills in biotechnology and in the discovery and development of new medicines, as well as expertise related to commercialization. Through the Norwegian Porphyria Centre – NAPOS, the research team has a unique and in-depth knowledge of the disease. The project is further strengthened through a direct patient involvement. A new prophylactic medicine for AIP will lead to a significant increase in quality of life for patients and their families. The market for “orphan drugs” will be our primary objective at this stage and will ensure continued financial viability for the project.

The project has received funding from the Norwegian Research Council (NFR) via the BIOTEK2021 program and is now in a hit-to-lead optimization phase. We are now actively developing pharmacological chaperones for the treatment of acute intermittent porphyria and methodological toolkit to screen new molecules.

The team is looking early stage collaborators in the project, such as biotech companies within the drug development field and having strategic interests in protein misfolding disorders, development of pharmacological chaperone and porphyria.

Inserm (France), Assistance Publique – Hôpitaux de Paris (France)
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