This will be a study to describe patients with each of 5 very rare lysosomal diseases; Fabry, Gaucher, mucopolysaccharidosis 1 (MPS I), also known as Hurler's syndrome, Pompe, and Niemann-Pick. Lysosomal disease are all inherited diseases that affect lysosomal or enzyme function. Without necessary enzymes, lipids and proteins can build up in the body and lead to organ dysfunction or failure and ultimately, premature death. There are no cures for these diseases but there are some drugs to treat the symptoms. However, additional treatments are needed to improve quality of life and life span. This study will provide up-to-date, population-based data to inform the literature regarding the demographics and comorbidities of patients with these diseases so that newer drugs can be developed for those in need and so we can describe the impact of treatments currently available in clinical practice.
We will identify all patients with a Read code for each of the 5 study diseases (Fabry, Gaucher, mucopolysaccharidosis 1 (MPS I), also known as Hurler's syndrome, Pompe, and Niemann-Pick), and will conduct a validation study of all diagnosed patients. We will request hospital and consultant letters, as well as GP notes, where available from GPs to validate the diagnosis and to collect information on treatments and details of the disease course not available in the computer record. We will also review the complete computer record of each patient to identify disease codes, symptoms, and treatments as additional validation. This will be the only validation for patients for whom we do not receive clinical records. We will provide descriptive statistics for each of the 5 diseases which will include distribution of disease by age, sex, year of diagnosis, comorbidities and treatments. We will also calculate incidence rates as the number of cases over person time in the CPRD population.
Health Outcomes to be Measured:
The outcomes of interest will be incident diagnoses of Fabry, Gaucher, MPS I, Pompe, or Niemann-Pick (see description of the study population, and code lists in the appendix). We will identify all patients with any Read codes for any one of these 5 diseases. We will review all computer records for symptoms, treatments and comorbidities to confirm the presence of the disease. We will also request hospital and consultant letters, as well as GP notes, where available from GPs to validate the diagnoses.