Stemnovate seeks volunteers as it creates children’s rare disease platform in battle against mitochondrial conditions

Biotech company Stemnovate is accelerating its research into rare mitochondrial diseases in children that severely impact the liver, heart and brain.

It is seeking volunteers to help it develop its ethical new children’s platform and aid its work on the diagnosis and treatment of Alpers Huttenlocher Syndrome (AHS).

This rare, severe mitochondrial disease causes seizures and liver failure in children and there are no effective treatments.

Dr Ruchi Sharma, CEO of the Babraham Research Campus-based company, told the Cambridge Independent: “At Stemnovate, we gather samples from willing participants to study genetic causes and their impact on specific cell functions.

“These cells are then directed in the laboratory to become stem cells and further develop into brain, liver, and heart cells. This innovative and ethical approach not only provides an alternative to obtaining cells from living individuals, but also contributes to the development of new treatments without causing harm or pain to patients.

“It significantly reduces the need for animal testing, aligning with our commitment to patient welfare and ethical research practices.

“Stemnovate's mission is to prevent early disability and death in children affected by AHS. By addressing the need for more research funding for rare diseases, we are not just aiming to develop faster, more effective treatments and potential life-saving breakthroughs, but also to bring hope and optimism to the lives of these children and their families.”

AHS impairs energy production in human cells, affecting the brain and liver. Since these organs are challenging to assess, Stemnovate creates brain and liver cells from more easily accessible tissues, such as skin or blood.

“We conduct extensive studies on cells to understand their functions and the changes that lead to diseases, contributing to the development of treatments for various conditions,” continued Dr Sharma.

“Our aim is to create a leading platform for research on children's diseases. But we can't do it alone. We are currently recruiting volunteers and seeking partnerships with top-tier pharmaceutical companies to ensure the rapid translation of our research into new medicines.”

The company has obtained approval from the Health Research Authority’s Research Ethics Committee, ensuring the ethical conduct of the study, which asks volunteers to donate a small blood sample, skin biopsy or urine sample.

Children diagnosed with or suspected of having a mitochondrial disease, including AHS, and parents or family members of children diagnosed with a mitochondrial disease are being asked to participate, along with healthy volunteers.

About one in 100,000 children develop AHS, with males and females equally affected. Iccurs in many ethnic groups, with a slightly higher carrier frequency in people of Northern European descent.

Some 72 per cent of diagnosed rare diseases have a genetic cause.

Stemnovate Children's Rare Disease platform is integrating genetics with cell modelling to gain new insights to help develop new treatments.

To register your interest in the study, email info@stemnovate.co.uk or fill an online form at https://stemnovate.co.uk/campaign/volunteer-for-alpers.