PROSPER- 2B
Research type
Research Study
Full title
Prospective Observational Study of Patients with Mitochondrial Depletion Syndrome, RRM2B
IRAS ID
246679
Contact name
Grainne Gorman
Contact email
Sponsor organisation
The Newcastle upon Tyne Hospitals NHS Foundation Trust
Clinicaltrials.gov Identifier
Not Applicable, Not Applicable
Duration of Study in the UK
2 years, 0 months, 1 days
Research summary
Summary of Research
Mitochondrial diseases are an important group of inherited neurometabolic disorders that invariably exhibit multi-organ involvement, are relentlessly progressive and result in high disease burden and premature death.While pharmacological agents are emerging for mitochondrial disease, there is a paucity of effective therapies. Hence there is a significant, unmet clinical need for the development of new therapeutic strategies.
The objective of this study is to interrogate the clinical features of patients with recessive RRM2B-related mitochondrial disease; to devise disease-specific, patient-centric outcome measures that will inform the design of a future drug trial.
Summary of Results
PROSPER 2B Full title: PRospective Observational Study of PatiEnts with mitochondrial depletion syndrome, RRM2B Why was PROSPER 2B needed?
Mitochondrial disease is a genetic condition that can affect anyone at any age. Currently there is no cure and no approved treatments.
Errors (mutations) in the genetic information (genes) within cells cause mitochondrial disease. There are many types of mitochondrial disease. The type depends on which gene has the mutation.
A mutation in a gene called RRM2B causes one type of mitochondrial disease. RRM2B-related mitochondrial disease is a serious condition that can affect children and adults. It is most severe in younger people.
Learning as much as we can about RRM2B-related mitochondrial disease will help us develop new research and treatments. This includes looking at the clinical signs and symptoms and how these change over time.
Who designed, led and funded the trial?
People living with mitochondrial disease helped us design PROSPER 2B.
The Wellcome Centre for Mitochondrial Research at Newcastle University led the study with The Newcastle upon Tyne Hospitals NHS Foundation Trust. The Lily Foundation provided funding.
What did it investigate?
PROSPER 2B was an observational study. We collected information about the people who took part. We did not give them new medicines, or change their treatment. We looked at the clinical signs and symptoms they experienced over an 18-month period. We also asked to them to complete some tests to assess their ability to perform activities of daily living over this time.
Where and when did the study take place?
PROSPER 2B took place at The Newcastle upon Tyne Hospitals NHS Foundation Trust. It started in May 2019 and ended in July 2022.
Who took part and what did it involve?
Adults and children with a diagnosis of RRM2B-related mitochondrial disease took part in this study.
Study visits took place at the Study Centre in Newcastle or at the participant’s home. Participants had two visits, one at the start of the study and another at the end (approx.18 months later). There was also the option for two further visits (at months 4 and 8).
During the visits, a doctor examined the participants. The participants then completed some tests. The number and type of tests depended upon the participant and the location of the visit. Some people also provided blood and stool (poo) samples for further analysis in the lab.
How many people took part?
Ten people aged 15 and over took part in PROSPER 2B.
What were the results?
From the data we collected, we found that:
• People with RRM2B-related mitochondrial disease face significant health challenges.
• These challenges have a big effect on quality of life and wellbeing.
• A key health issue is weakness in many muscles. This includes the eyelids, the muscles that help with breathing, and the arms and legs.
• Most participants got worse over time, especially in tests of their breathing.
Was the study useful?
Information from PROSPER 2B will help doctors and scientists looking at mitochondrial disease. We now understand more about RRM2B-related mitochondrial disease and how it changes over time. This will help doctors spot health problems early and plan future treatments. The data will also help inform people living with RRM2B-related mitochondrial disease about issues they may face in future.
Scientists will be able to use the study data to design drug trials and look at how useful new treatments may be.
What happens next?
It is important that research into mitochondrial disease continues. We have collected much data which we will continue to analyse. We will also use data from PROSPER 2B to develop future research.
Where can I find out more?
More details are available from the Wellcome Centre for Mitochondrial Research (WCMR): https://eur03.safelinks.protection.outlook.com/?url=https%3A%2F%2Fu2790089.ct.sendgrid.net%2Fls%2Fclick%3Fupn%3DXv3JSvJ-2B3M71ppf7N9agbZoGl-2FFzCaLGRBJA0Gk98pXAV542qh-2FDf7PgERzVyviYs8atrdt27OhcoDg5YV5mtQ-3D-3DSNLq_E1aO2-2BZlVOSJJV-2FajQqskegTd6IRomHYTi-2Fbt8SH3YKoKZny1ye0Rw3YU0MXxLkjY25NpXNTaLb0S-2FzkrXKfAOmaJLRyHB8qJG1tTuTT-2F9fUzEyOza1AAJ6DS-2BPdTn-2FnsGxxlTzkJ59i2S3oFvj9DYtuQgvt9u8xXOOpqdjhD3tIA02UngZsHh-2FvK8chTDqMFCtHpOUs42XpXs7iJpiZfQ-3D-3D&data=05%7C01%7Capprovals%40hra.nhs.uk%7Cff7cbc7aa3034e5ceeba08da869fd045%7C8e1f0acad87d4f20939e36243d574267%7C0%7C0%7C637970318193224362%7CUnknown%7CTWFpbGZsb3d8eyJWIjoiMC4wLjAwMDAiLCJQIjoiV2luMzIiLCJBTiI6Ik1haWwiLCJXVCI6Mn0%3D%7C3000%7C%7C%7C&sdata=RtG%2FyIYtP4NJj28MaWC1g2MfYDlAtJO%2FNicX73n6wNs%3D&reserved=0REC name
West Midlands - Solihull Research Ethics Committee
REC reference
18/WM/0354
Date of REC Opinion
3 Jan 2019
REC opinion
Further Information Favourable Opinion