Imagine hearing the devastating news that your baby has a life-limiting disease. Now imagine having to leave your home and family and everything that is dear to you, to try to give your baby the best chance you can.

It’s a heart-breaking situation and one Kristina Gelblin, Patient Support Partner at Roche, is all too familiar with. Kristina is the vital link between patients, their families and the research centres at the forefront of the race to find new treatments for spinal muscular atrophy. Here, we tell the story of one baby recently enrolled in one of our research studies.

Spinal muscular atrophy is a rare genetic neuromuscular condition, affecting approximately 1 in 10,000 babies born worldwide each year. It is typically diagnosed in children and causes muscles to weaken and waste away. Depending on its severity, people with the disease will have difficulties moving, eating, and in some cases breathing, making them increasingly dependent on parents and caregivers.

  • SMA is caused by a defect in a gene called SMN1, the main gene responsible for creating SMN protein

  • Depending on the severity, or type of SMA, people with the disease will have difficulties moving, eating, and in some cases breathing, making them increasingly dependent on parents and caregivers

  • People with SMA have reduced levels of the SMN protein, which plays a critical role in the survival of motor neurons, nerve cells found in the spinal cord that are responsible for controlling muscle movement

  • When SMN protein levels are reduced, motor neurons are unable to send signals to the muscles, causing them to become smaller and weaker over time

One of the biggest challenges with research into rare diseases like SMA is the small number of eligible patients available to enter trials. In addition, timelines can be very short because of the patient’s age or current health status. Once contact has been established with the family of a patient, normally through the dedicated work of a patient group, the research team has to work intensively and quickly to assess their suitability and match them with a trial centre – which may not even be in their home country.

“SMA is a rapidly progressive disease. It affects the muscles involved in swallowing, breathing and feeding and therefore it can become life-threatening very quickly, especially for babies affected by SMA Type 1,” said Kristina. “It is essential that babies with SMA Type 1 can join a clinical trial as early as possible. For families who want to participate in a clinical trial but don’t have access in their home country, it means that they might have to relocate to another country.”

In the case of this baby, the timeline from diagnosis to enrolment was just six weeks, challenging by any standards, but all the more impressive given that baby was diagnosed in Asia, which meant an 8,000-mile journey to join a trial in the US.

Patient organisations play a vital role in trying to match people with SMA with ongoing research studies. One of these organisations contacted Kristina who immediately began the process of finding a trial site that could take the baby. This mobilised a large cross-functional team with front-line investigators in the research centres being supported by colleagues in Clinical Operations, Clinical Science, Bio-sampling, Legal, and Transitioning Support Services.

“Before a family can relocate to another country with their child to participate in the clinical trial a lot of different things have to be arranged,” says Kristina. “This includes things like visas and passports, but also their study centre needs to speak to their local treating physician to make sure that this child is really fit for travel and can participate in the clinical trial.

“This is a very challenging situation for the families,’’ she adds. “They have not only just received a diagnosis for the child, but are leaving also their home country, their friends, their jobs and their home to move to another country to participate as quickly and early as possible in a clinical trial.”

Only with this synchronised team effort can we give the families of those diagnosed with SMA like this baby the best chance of receiving treatment. While Kristina coordinates these complex arrangements, she also provides ongoing day-to-day practical information and emotional support for these families who may be leaving jobs and their family and friends that form their usual support network.

Every patient enrolled into a clinical trial makes a difference in advancing research in rare diseases like SMA, and we are committed to supporting these parents, caregivers and patients at every step of their journey as we strive to find better treatments.

At Roche, we know that people affected by SMA urgently need more treatment options which is why we are partnering with patients and patient organisations to investigate multiple approaches to treating this disease.

Our extensive clinical development programme includes two oral molecules, each with a different mechanism of action. We are currently running four global clinical trials in babies, children and adults with SMA.

For more information on SMA and our clinical trial programme, please visit.

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