Let's get MINPP1 clinical trial ready!

MINPP1 research has already started and will bring more attention in the years to come. 

Thanks to 2 research groups from Europe, the gene effects have been identified. In addition, the link between MINPP1 and pontocerebellar hypoplasia has been made. Now that this gene is identified as responsible for neuro-developmental issues worldwide, new families will get a quicker diagnosis. 

The road is still long until we identify the right pathway to start gene therapy or using RNA messengers. Advanced gene sequencing, lab work and data analysis have to be made. After discussing with members of the MINPP1 research group, the best strategy will be: 

1. Connect all families together worldwide 

This way we create a strong clinical study database for doctors. Each child will have different genetic variants and phenotypes. Gathering and studying them all together will give better functional understanding of the gene defect and better support for the children. Doctors will connect between them. 

Also each family will share its own findings and tips to give the best quality of life. 

Lastly, the more we are, the more we will be able to raise funds.

Imagine Institute in Paris is recruiting (PDH student and/or post-doctorate engineers) to take on the existing MINPP1 research and also to investigate across pontocerebellar hypoplasia. Not all is fully understood today and we cannot yet go the cure stage. As an example, some research will be beneficial to many pontocerebellar hypoplasia children. Indeed, it seems that IP6 affects RNA maturation and may explain pons, brain stem and cerebellum atrophies. 

Even if pontocerebellar hypoplasia are a complex rare disease family, the positive side is that MINPP1 metabolism has been identified. It works on several levels. Not only gene therapy would be a solution, but also some support/replacement therapies can have a positive effect: phytase enzyme therapy, chelation therapy, oxidative stress apoptosis reduction... There are several doors to open.

After bridging the remaining research gaps, we will be ready restore the defect through gene therapy or using messengers (RNA therapy). We have to be ready with an organized patient advocacy group to do the clinical trials once the cure is available.