Leading the way for patients with rare diseases

Research has the power to change the future – and that’s especially true for patients with rare diseases.

In some cases, research interventions are the only available treatment options for patients with ultra rare inherited metabolic disorders. For others with these progressive, life-limiting diseases there are some treatment options but the search continues to find more effective treatments and therapies.

The UK is a recognised leader in research, treatment and care for rare diseases and Salford Royal’s Mark Holland Metabolic Unit is a key part of that.

The unit, one of just five adult specialist Adult Inherited Metabolic Disorder centres in England, sees patients from as far afield as Scotland, Wales, Newcastle and the Isle of Man. It currently has six active research studies and contributes to 11 registries capturing data about patients with different disorders.

The team is about to start its fifth Phase I study. This ‘first in man’ drug trial will investigate a new enzyme replacement therapy for patients with Niemann Pick disease Type C, a devastating inherited neurodegenerative disorder in which harmful quantities of a fatty substance build up in the body’s cells and organs. Only about 12 patients will be recruited to the study worldwide and it has taken considerable work by the metabolic medicine team and colleagues in other departments of the Trust and at the Manchester Clinical Research Facility to be able to offer this potentially life-changing research.

Previous Phase I trials conducted at Salford Royal have helped to make a real difference to patients’ lives, says Senior Research Nurse Marie Meehan. One example is a study of an enzyme replacement therapy for Morquio A syndrome, a form of mucopolysaccharidosis (MPS), which can cause serious problems, including heart disease, skeletal abnormalities, vision and hearing loss, difficulty breathing, and early death. The study was so successful that the therapy has now been licensed as a treatment.

Marie said: “We ask our patients to make a big commitment when they take part in these studies – sometimes they are travelling long distances for visits here and they could be having a nine-hour infusion every two weeks. But it’s wonderful when we see positive results that really do change lives, for instance when a patient is able to walk after never being able to before. Having that independence and dignity makes a huge difference.”

Metabolic medicine consultants Professor Chris Hendriksz, Dr Mark Roberts, Dr Reena Sharma, Dr Gisela Wilcox and Dr Ana Jovanovic are all active in research. The unit’s expertise includes:

  • Cholesteryl Ester Storage Disorder (Lysosomal Acid Lipase (LAL) Deficiency
  • Pompe disease
  • Fabry disease
  • Gaucher disease
  • PKU