Weekly Spotlight - 03.10.24

In the News

MSOT Outperforms MRI in Visualising Pompe Muscle Disease

A recent study has found that multispectral optoacoustic tomography (MSOT) may be more effective than MRI or ultrasound in visualising muscle degeneration in late-onset Pompe disease (LOPD). This noninvasive technique uses light and sound waves to image deeper muscle layers, potentially reducing the need for more invasive procedures. The study, published in Nature Communications, demonstrated that MSOT could detect muscle degeneration and glycogen accumulation more precisely than traditional methods, offering a promising new tool for monitoring LOPD.

Interestingly, MSOT scans were quicker and less cumbersome than MRI, taking only about 13 minutes per bicep scan. While the study had a small sample size and noted limitations regarding skin tone suitability, the results are encouraging. Researchers are optimistic about further studies, including those involving paediatric patients, to validate and optimise this innovative imaging technique.

Pompe Disease Patients Face Elevated Mental Health Risks, Study Reveals

Recent research reveals that individuals with Pompe disease face a mental health risk 2.5 times higher than the general population, with 57% diagnosed with mental health issues. Despite this, only 19% receive referrals for mental health support, highlighting a significant gap in care. Heather Shorten, Executive Director of the Pompe Alliance, emphasises the intertwined physical and emotional burdens faced by this community, noting that nearly one-third of patients experience suicidal ideation.

The survey by Mental Health for Rare also found that 74% of those not seeing a mental health professional wish to do so, but face barriers such as lack of local resources and stigma. By presenting these findings at the Week in Rare, the initiative aims to raise awareness and inspire changes to improve mental health care access for rare disease patients and their caregivers.

Early ERT and Immune Tolerance Induction Benefit Pompe Twins

A recent case report highlights the promising outcomes of early high-dose enzyme replacement therapy (ERT) combined with immune tolerance induction in twins with infantile-onset Pompe disease (IOPD). The twins, both CRIM-negative, received a cocktail of rituximab, methotrexate, and intravenous immunoglobulin alongside Lumizyme, an ERT. This early intervention appears to have prevented the development of inhibitor antibodies, which can otherwise render ERT less effective. The twins showed significant improvements in heart function and motor skills, with the boy starting treatment at 28 days and his sister at 44 days.

By 39 months, both twins had normal heart function and were making strides in their motor abilities, although some challenges remained. The researchers suggest that early initiation of ERT, coupled with immune tolerance induction, could be a game-changer for CRIM-negative IOPD patients. However, they call for further studies to assess long-term outcomes in a larger cohort. This case underscores the potential of early, aggressive treatment strategies in managing rare genetic disorders, offering a glimmer of hope for affected families.

AskBio and Belief BioMed Partner for Gene Therapy Innovations

AskBio, a gene therapy company under Bayer, has teamed up with China's Belief BioMed (BBM) to develop new gene therapies targeting liver diseases. This partnership aims to leverage BBM's advanced viral vector technology and AskBio's extensive clinical programmes to address high unmet medical needs. Both companies bring a wealth of expertise, with BBM's innovative capsid technology and AskBio's diverse therapeutic pipeline, including treatments for conditions like Parkinson's and muscular dystrophy.

The collaboration is built on a shared vision and mutual trust, with both companies eager to explore the potential of next-generation gene therapies. AskBio's CEO, Gustavo Pesquin, emphasised the importance of working with like-minded partners to advance their pipeline assets. Meanwhile, BBM's co-founder, Xiao Xiao, highlighted their achievements in gene therapy research and production. This partnership promises to be a significant step forward in the quest for effective treatments for severe genetic and chronic diseases.

South Carolina Celebrates Newborn Screening Successes During Awareness Month

September marks Newborn Screening Awareness Month, and the South Carolina Department of Public Health (DPH) is celebrating the life-saving successes of its Newborn Screening Program. This initiative tests every newborn for potentially fatal disorders that aren't apparent at birth. Early detection, as in the case of Nora Eysen, who was diagnosed with Pompe Disease, allows for timely treatment, significantly improving health outcomes. Nora, now three, is thriving thanks to early intervention.

The DPH continues to expand its screening panel, now covering 58 disorders, including cystic fibrosis and sickle cell traits. Dr. Edward Simmer, DPH interim director, emphasises the importance of these screenings, which have benefitted over 53,000 children in South Carolina in recent years. The upcoming Public Health and Environmental Laboratory, set to open in 2026, will further enhance the state's capacity to provide these crucial screenings, ensuring a healthier future for all newborns.

Diaphragm Pacing Enhances Breathing in Severe Pompe Disease Patients

In the fascinating world of Pompe disease, a rare genetic disorder, researchers have been exploring the potential of diaphragm pacing (DP) to improve respiratory outcomes. Pompe disease, characterised by a deficiency in the enzyme acid alpha-glucosidase (GAA), leads to glycogen accumulation in various tissues, causing severe muscle weakness and respiratory failure. Despite enzyme replacement therapy, many patients remain ventilator-dependent. Enter DP, a technique that stimulates the phrenic nerves to contract the diaphragm, potentially offering a breath of fresh air—quite literally—to those affected.

In a study involving six patients, including three children, DP showed promising results. Participants underwent DP implantation and conditioning, gradually increasing their ventilator-free time. Over time, three subjects demonstrated stable or improved minute ventilation without positive-pressure assistance. The study, spanning up to seven years, revealed that DP was feasible, well-tolerated, and led to few adverse events. While DP isn't a cure-all, it offers a glimmer of hope, suggesting that with the right stimulation, even the most compromised diaphragms can find their rhythm again.