Clinical trials

Hypertrophic Cardiomyopathy (HCM) is an inherited cardiac condition that affects the heart muscle of adults and children. Historically, doctors have been cautious about encouraging patients with HCM to exercise, as they were worried it could be unsafe due to the risk of heart problems or emergencies. But recent evidence shows that the risks of exercise for a patient with HCM are far lower than previously thought and exercise has many benefits for a child's general health and mental well-being and is an important part of their social development. One way to help children with HCM feel confident to exercise is with an individualised exercise 'prescription'. This is where a team of specialist doctors, nurses, and physiotherapists assess patients and advise them on how to exercise safely and effectively. They then provide an exercise plan or 'prescription' individualised to them. This study aims to establish whether the investigators can deliver an individualised exercise prescription (IEP) service for children with HCM who attend outpatient cardiology. A further aim is to see if children will want to take part and adhere to the IEP. In this study children aged 10 to 18 years old attending outpatient cardiology clinic at Alder Hey Children's Hospital (AHCH) under screening for HCM will be asked if they wish to take part in the study. Those who wish to take part will have extra appointments at AHCH, during which the investigators will measure their height and weight. They will also have other tests done like blood pressure, a cycle test, sit-to-stand test, measurement of their hamstring flexibility and an ultrasound measure of their thigh muscle. The participants will be asked to complete a questionnaire about their quality of life. The participants will then be given an individualised exercise plan. In the first month, they will be given a supervised exercise session and asked to record their activity levels in an exercise log. The participants will have either a monthly telephone call or a face-to-face visit to see how they are getting on. After 6 months, all the initial tests will be repeated. The investigators will look at the data to see if the exercise prescription was helpful, if children could stick to it and if there have been improvements in their fitness and quality of life. Finally, the investigators will see them again six months later to see if the IEP programme has had a lasting impact on their exercise levels, fitness, and well-being.

Babies with Hirschsprung's Disease are born without normal nerves to the end of their bowel which means they cannot poo properly, and are at high risk of infection of the bowel, called enterocolitis. 1 in 4 children with Hirschsprung's Disease develop enterocolitis and, if not treated quickly, it can lead to death. The symptoms include a swollen tummy, temperatures and diarrhoea but it can be hard to spot, especially in the early stages, and there is no test for it. In some diseases, a substance called calprotectin is found in the poo when the bowel is inflamed. The investigators plan to collect poo samples from children with Hirschsprung's Disease and measure the calprotectin, to see if it can help the investigators predict which children are at highest risk of enterocolitis. When the investigators collect the poo we will ask parents some questions about their child's diet and poos over the week before, and how easy it was to collect the sample. This is a pilot study, which means the investigators don't expect to get a definite answer to whether measuring calprotectin levels will change treatment for children with Hirschsprung's disease. However, it will help the investigators find out if calprotectin levels are a useful test for bowel inflammation in these children and will tell us what parents' views are on collecting poo samples regularly. If it does look like measuring calprotectin is a useful test in Hirschsprung's disease, the investigators will do more studies to find out if some children may benefit from more intensive treatment.

Children with Hirschsprung's Disease (HSCR) have no normal nerve cells in the lower end of their bowel. This can cause babies to die if left untreated treated. Currently the part of bowel that doesn't have normal nerves is removed with an operation, but this can have long-term complications including needing a permanent bag on the tummy for poo (stoma). Because of this there is an urgent need for better treatments. The investigators have found that children with HSCR have nerve stem cells throughout their bowel, even in the lower end where the nerves haven't grown normally. We can grow these stem cells in the laboratory to form balls of nerve cells (neurospheres). The investigators want to find out whether these neurospheres grow into the nerves that are needed for the bowel to work normally. First the investigators will see how the nerve stem cells from the lower end of the bowel grow compared to those from the normal bowel. Then the investigators will see if the neurospheres change when the investigators put them with medications that affect growth of bowel nerves. At the end of this project the investigators hope to know whether the nerve stem cells at the lower part of the bowel in children with HSCR can turn into bowel nerve cells that might make the bowel work normally. The investigators also hope to know whether the investigators can use medications to make the stem cells turn into normal nerves, meaning that children with HSCR could avoid an operation and a stoma.

Approximately 340 babies are born with Hirschsprung's disease (HSCR) or an anorectal malformation (ARM) per year in the UK. Most require corrective surgery in the newborn or early infancy period. In both conditions, there is both variability in the severity of the condition and the type of operative technique used. Many children do well following surgery and have good continence in later life. However a significant proportion of children suffer from a lifetime of constipation or incontinence. This has a significant impact on their social and psychological welfare and is a significant burden on healthcare resources. Due to the variation in practice, there are limited data on long-term outcomes following surgery for children with HSCR or ARMs. Where studies have been performed, they often include small numbers, non-standardised outcome measures and short follow-up periods. It is therefore difficult to ascertain the effectiveness of different management strategies. However, a recent Delphi process has been carried out to establish 10 core measures in HSCR to improve outcome reporting. This research group has a long track record in this research area, specifically in the determination of long-term outcomes of children with HSCR, leading to well cited papers within the literature. In the last 2 decades there has been a significant change in the surgical techniques used in HSCR, however the underlying evidence base for this is still lacking. This study seeks to follow-on from previous studies looking specifically at the long-term outcomes in children with HSCR. Furthermore, the aim is to widen the study to encompass all children treated at Alder Hey and also to use the same methodology to assess long-term outcomes for children with ARMs, as both groups of patients experience similar long term morbidity. This will provide qualitative and quantitative data aiding counselling parents of children with HSCR/ARM.