The Glasgow Rare Disease Showcase

Dr Ewout Groen is a Postdoctoral Researcher at the University of Edinburgh, focusing on motor neuron diseases. He came to our Showcase to discuss the research taking place in spinal muscular atrophy (SMA) – the most common genetic cause of infant mortality. After outlining the different types and genetic cause of SMA, Ewout discussed how a collaborative effort between patient communities, clinicians, and researchers, led to the approval of spinraza – the first drug for SMA.

In clinical trials, it was shown that spinraza significantly increased the overall survival rate of SMA patients, and for some older patients their motor skills vastly improved. Despite this breakthrough, there are still a number of challenges for SMA patients. In particular, Ewout highlighted how, due to the high cost of the drug, access to the treatment varies greatly between countries. In England, for example, access to spinraza on the NHS was rejected by NICE. In Scotland, however, the drug was approved by the Scottish Medicines Consortium, but only for very young patients with SMA.

Finally, Ewout discussed the lessons other rare diseases could learn from the SMA example. This included the benefits of selectively choosing patients to take part in research studies, which although may lead to a limited number of people involved in clinical trials, might result in higher chance of a successful trial outcome, resulting in treatments being approved for all patients.

In 2008, Tracy’s youngest son Alfie was diagnosed with lymphangiomatosis, following a referral to a specialist hospital in London. At their appointment, the Doctor informed Tracy and her husband that there was little known about the disease, no cure and few treatment options available. The Doctor made them a follow up appointment for a year’s time, and told them to go home and wait and see what happened. Tracy felt powerless, not knowing how to help her son, what was happening to him, and with no support network to turn to.

Over the next year, Tracy and her son navigated through the healthcare system, seeing numerous clinicians and having multiple tests – without ever being told the results – all while Alfie’s condition continued to worsen. After spending 12 months feeling ignored and frustrated, it was not until they returned to London that Alfie was admitted as an inpatient, hooked up to monitors, and Doctor’s began talking about treatment options. Having finally been taken seriously, Alfie spent two years undergoing chemotherapy and slowly started making improvements.

After her frustrating experience, Tracy decided she wanted to ‘take back control’, and set up the Alfie Milne Lymphangiomatosis Trust so that no other patients or parents would have to go through the same journey she had.

After our morning tea break, Tom Watson, Executive Vice President at Bionical, began his presentation on early access programs. Early access programs – also known as compassionate use, expanded access, and managed access – can allow rare disease patients to access treatment for their condition before it is officially approved.

Tom discussed the milestones that have led to today’s position on early access, beginning with the 1980’s AIDS crisis. During the crisis, there were few treatments in the US for AIDS, despite these being available in other countries, and patients were left facing a ‘death sentence’. Many, therefore, took it upon themselves to go abroad and visit the countries where treatments existed and bring these back home. This eventually led to the FDA putting in place regulations to allow access to investigational treatments for patients in need.

As these treatments are still being investigated, early access and similar programmes have to be designed carefully and regularly monitored, as the benefits and risks to patients have not always been fully established. However, having patients on these schemes allow pharmaceutical companies to generate real-world evidence of a drug’s success, that can support clinical trial data, and lead to it being approved.

Finally, Tom finished his talk with a call to action, stressing the importance of including patients’ and patient carers’ voices in the discussions and setting up process of early access programmes.

Morven-May shared the story of her lengthy and arduous battle with Lyme disease. She described how in her teenage years she was an outgoing and energetic young woman who loved hanging out with her friends, volunteering for a local animal rescue centre, and exploring the great outdoors. However, at 14, Morven-May developed a severe summer cold and when she returned to school in September had prominent stiffness in her neck, back pain, tiredness, and frequent headaches. Due to the lack of awareness about Lyme disease, Morven-May and her family thought these symptoms were nothing more than a young girl who was pushing herself too hard.

As time went on, Morven-May’s condition worsened, to the point where she could no longer remember her friends, or understand her surroundings, she struggled to speak, and would collapse when she returned home from school. By  16, Morven-May had already been misdiagnosed with glandular fever, a viral infection, and then a post-viral infection. At this point, due to constant exhaustion, she had to drop out of school, and her plans to attend university were cancelled. Morven-May was again misdiagnosed with ME and chronic fatigue syndrome, but luckily, her mother was a Nurse and she refused to accept these diagnoses were correct. Through her own perseverance, she discovered Lyme disease was the only condition which ticked all the boxes. Following another battle to be believed and taken seriously by medical professionals, she was eventually diagnosed with Lyme disease and related co-infections.

Although this was a breakthrough, she then had to begin treatment, which Morven-May described as being as cruel and brutal as the actual disease itself. The treatment caused her body to become essentially poisoned and she could no longer recognise her mother, or feed herself. This treatment took three months to complete, three months to recover from the side effects, and another three months to regain her ability to function. Over the past seven years, Morven-May has been through three rounds of this treatment. Lyme disease still dominates Morven-May’s life, but within the last year she has become a volunteer member of Lyme Disease UK, worked as a campaigner alongside MSP’s, presented talks on her experience, and published her debut novel, Finding Joy.

Dr Martina Rodie joined us from the Royal Hospital for Children in Glasgow, where she works as a Consultant Neonatologist. She works closely alongside The Office for Rare Conditions, a charity based at the hospital that aims to raise awareness of rare conditions, improve the quality of care provide to rare disease patients, and encourage participation in research. Martina presented an overview of the charity’s work, focusing on their projects in patient support, education, and research and clinical care.

Of particular interest was the work taking place in neonatal care pathways. Currently, there aren’t many care pathways, if any, for babies with rare conditions, but The Office for Rare Conditions has designed a tool which looks at rare conditions and assesses what care pathways do exist, so that they can signpost parents in the right direction.