Volunteers Needed for Alpers Syndrome Study

Stemnovate is a biotechnology company working to transform the drug discovery landscape while improving diagnostics. Currently, the company hopes to develop a research platform for rare pediatric mitochondrial diseases such as Alpers Huttenlocher syndrome, or Alpers syndrome.

The company starts by gathering blood, urine, or skin samples from children with rare mitochondrial disorders. Family members can also participate. Once the samples are collected, Stemnovate researches the cells to understand how underlying genetic changes impact how the cells function.

Stemnovate can also differentiate cells in the laboratory setting. Blood and skin cells are prompted to become stem cells – then liver, brain, and heart cells. This means that the lab can reduce reliance on animal models of disease. Instead, possible therapeutics can be tested directly on human cells. On the diagnostic side, researchers can also observe potential biomarkers.

Paul Brackley reports in the Cambridge Independent that Stemnovate is searching for volunteers to help build out this research platform. While Stemnovate is hoping to source samples in the Alpers syndrome space, others with rare pediatric mitochondrial diseases are also welcome to apply. Parents or caregivers of children with Alpers syndrome or rare mitochondrial diseases, and healthy volunteers, are also welcome to apply.

To learn more information, please head the above link (“welcome to apply”) or email [email protected].

What is Alpers Syndrome?

Also known as: Alpers Huttenlocher syndrome; Alpers disease

Alpers syndrome is a rare and progressive neurological disorder characterized by intractable seizures, liver disease, and psychomotor regression (loss of motor movement, coordination, and mental abilities). Considered a POLG-related disorder – as it is caused by POLG mutations – Alpers syndrome begins anywhere between three months to five years of age. Unfortunately, outcomes are poor. Most children do not live past their tenth birthday. Identifying effective treatment options for children with Alpers syndrome could be life changing. At this point, there is no cure. Treatments are supportive, aimed to reduce symptoms.

Outside of seizures, liver disease, and psychomotor regression, children with Alpert syndrome may show signs of:

  • Ataxia (issues with balance and coordination)
  • Neuropathy
  • Involuntary muscle twitching and limb movements
  • Absent or reduced reflexes
  • Hypotonia (low/decreased muscle tone) that can make it hard to sit, stand, or move independently
  • Loss of memory or language skills
  • Migraines
  • Hearing or vision loss
  • Low blood sugar
  • Slowed growth or weight loss
  • Dementia

If your loved one has Alpers syndrome, you are not alone. Please check out these helpful resources from Alpers Awareness.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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