Researchers Documents


Quality of Life

Using the RUDY study platform to capture quality of life of adults with rare diseases of the bone: Preliminary findings

L Zhang, R Pinedo Villanueva, MK Javaid Oxford NIHR Musculoskeletal BRU, NDORMS, University of Oxford

The development of new treatments for rare bone diseases is urgently needed. Assessing a patient’s health-related quality of life is useful for determining if a treatment is beneficial and cost effective. The EQ5D-5L is a questionnaire recommended by the National Institute for Clinical Excellence (NICE) for evaluating quality of life.

The quality of life for adults with rare bone diseases is currently poorly understood. Therefore we compared quality of life for adults with three rare bone diseases- osteogenesis imperfecta (OI), fibrous dysplasia (FD) and X-linked hypophosphatemia (XLH), using the EQ5D-5L questionnaire.

A total of 51 participants from the UK completed the questionnaire. We found overall a wide variation in quality of life scores. The majority of participants reported pain and discomfort to be significant problems in their lives. When comparing the three diseases, those with FD reported more anxiety and depression than participants with OI and XLH. Participants with XLH reported a better overall quality of life score. These initial results suggest a wide range of quality of life amongst adults with OI, XLH and FD. We hope a better understanding of health-related quality of life in this population will help guide the development of new treatments and funding for patient services.

Prepare project

We describe the experience of adults with myeloma during the first two waves of the COVID pandemic in the NHS.

Why did we conduct the PREPARE study?

  • patients with myeloma have been shielded and self-isolated since the start of the COVID-19 pandemic, due to the concern and subsequent reports of higher risk of severe COVID-19 disease and mortality.
  • The protective titre of antibodies required to prevent re-infection is unclear, as is the ability to protect patients from SARS-COV2 virus variants of concern (VOC).
  • Cycles of shielding and self-isolation can also cause considerable physical and psychological distress for myeloma patients.

What did we do?

  • We constructed a national web-based prospective study of adults with MM from December 2020 using patient co-developed measures of COVID symptoms, testing and vaccination.
  • We measured SARS COV-2 immunity acquired by infection or vaccination and quality of life (QoL) impact with standardised generic and disease specific patient reported outcome measures
  • Using the existing platform, informed online dynamic consent was obtained for all participants

What did we find?

  • 109 adults with myeloma completed the COVID-19 questionnaire with a returned blood sample between 5th February and 29th March 2021
  • A minority of participants (6%) reported major symptoms of COVID-19 and only one patient reported a PCR positive result
  • Almost all patients were either partially or fully shielded during both waves of the pandemic with fewer patients fully shielded in the second wave. The primary reason for shielding was due to current or recent immunosuppressive therapy.
  • Almost a third of respondents identified with making less healthy diet choices during the pandemic but few reported increases in alcohol, smoking or medical treatment for anxiety or depression.
  • One in 5 respondents scored ‘at risk of social isolation’, with no differences by age but men significantly more likely to be at risk than women.
  • 23.1% of patients reported symptoms of mild to moderate anxiety or mild to moderate depression during this period.
  • Out of the 107 patients suitable for serological analysis at the time of reporting, 5 were found to have positive levels of N protein antibodies, indicating that they had suffered a natural infection. Only one of these patients had history of a PCR positive result known at study entry with the remaining patients having had asymptomatic infections.
  • Of the 23 participants who were sampled at least 3 weeks after their 1st dose, 40% - 50% already had a probably satisfactory antibody response.

What does this mean?

  • Many participants had significant issues around mental wellbeing and measures should be taken to provide psychological support for these patients.
  • Further work is needed to understand the immune system responses after the 2nd dose of the COVID AZT/ Oxford and Pfizer vaccines.
Where can I find a copy of the published paper? Please follow the link to access our first paper