Open GEM study - Prevalence of genetic diseases in ME/CFS patients, 2022, Esther Crawley, Bristol University

"Start dates may differ between countries and research sites. The research team are responsible for keeping the information up-to-date.
The recruitment start and end dates are as follows:
01 Sep 202230 Sep 2024

Participants are asked to complete one questionnaire and provide a saliva sample via an Oragene kit
Patients aged 8 - 70 years with ME/CFS who live in the UK."

I am interested to know what will be done with the genetic information.

I'm feeling pretty concerned about this. Participants may be talked into giving their DNA sample to Bristol University, to do whatever they want with. It also sounds as though there will be online forms about "you and how you are feeling". It sounds as though there is phone screening of participants.

With Bristol's history, and Crawley's (previous?) involvement in this study, I can't help but be suspicious. Is this a sleight of hand to get the DNA of 1000 children and 1000 adults with ME/CFS, along with information about "you and how you are feeling"?

At the very least, promoters like the MEA need to be making it abundantly clear that part of Bristol's plan is essentially to make a genetic databank.

I will be interested to hear about the experiences of people who start the process of participating.

 

Looks as if they get your medical records as well as genetic data and the 20 minutes of questionnaires.

It might all be legitimate, but it's just that Crawley was such a key part of MEGA.

I wonder if all the medical records and questionnaire data goes along with the DNA into the Bristol data bank, for later use by whoever.

 

Yes, if Crawley is not involved, that makes me feel better about this.

But, prospective participants need to be aware that, if they agree, their DNA/DNA information, medical records and answers to the questionnaires are being stored, and they have no control over who has access to that information. They might want to ask some questions about who is making decisions about how the data is used. Is there patient involvement?

I wouldn't discount the utility of a 2000 person genetic data sample, linked to questionnaire data and medical records, in the hands of researchers with a BPS outlook, looking to put a psychosomatic overlay on a suggestion of a biological cause of ME/CFS from the DecodeME results. E.g. "70% of people in the Bristol sample with a relevant variant identified in DecodeME met the criteria for at least mild depression..."ME/CFS and Depression may share the same genetic basis"

Finding out the content of the questionnaires would be useful.

 

Information from the Trial registry

Study type: screening

Current interventions
All data will be collected via REDCap, which is an online secure and safe platform. Participants will complete online forms to provide the following:
1. Consent to the study
2. Personal details such as gender and ethnicity
3. Symptom data, including fatigue severity
4. Quality of life data
5. Pain data
6. Well-being data

Previous interventions:

Data collection:
Data collection using REDCap: The Paediatric service uses online systems to collect assessment and outcome data online in CYP. The research team at the service have developed, tested and use online consent to enable participants to take part in trials. Therefore, all participants will use REDCap to record their answers. Only members of the research team will have access to the participant’s data recorded in REDCap.

Demographic Data: we will collect the following demographic data: date of birth, gender, ethnicity, NHS number.

Symptom data: We will collect the following data at assessment (yes=frequently present): cognitive problems, headaches, muscle aches, joint aches, sore throats, tender lymph nodes, nausea, dizziness, palpitations, respiratory problems.

Patient Reported Outcome Measures (PROMs): We will collect the following Patient Reported Outcomes Measures which are routinely collected at assessment in the ME/CFS clinics: Fatigue (Chalder fatigue scale, 11 items; Physical Function (SF-36 physical function subscale); pain (visual analogue scale); Anxiety and Depression (Adults: Hospital Anxiety and Depression Scale, Children and young people: Revised Childrens Anxiety and Depression Scale).

At Royal United Hospital Bath, demographic data and the PROMs are collected using REDCap and we will therefore obtain consent to use this data, rather than ask the CYP to complete these questionnaires again. We will therefore only collect symptom data on REDCap for CYP. At North Bristol Trust, participants will be asked to provide all the data using REDCap.

Sample collection: Saliva samples will be collected from all consenting participants. They will be labelled with barcode ID numbers and personal information will not be passed to researchers/technicians processing or analysing the samples. Participants can choose to collect saliva at home or in clinic. If participants chose to collect saliva at home, we would send them an Oragene Saliva collection kits with a returned address envelope, sample pot and instructions.

The instructions include a link to a video describing how to collect the saliva. Previous feasibility work has demonstrated that adults with ME/CFS have found these easy to use at home and have produced saliva from which good quality DNA can be extracted. If participants prefer, samples can be collected in the specialist ME/CFS service with help from the research nurse (or the recruiting clinician). All samples will be posted to the Bristol Bioresource Laboratories (BBL), Oakfield House, University of Bristol. If there is indication of Pompe disease and/or LGMD2A, these participants will undergo further testing to confirm the diagnosis of Pompe disease/LGMD2A. This is likely to include providing a second saliva sample for testing or a blood sample for DBS testing in a certified NHS clinical setting.

Intervention type
Other

Primary outcome measure
1. Symptoms are measured via a 4-point Likert scale from 1 (all of the time) to 4 (none of the time) at baseline.
2. Fatigue is measured by the Chalder Fatigue Questionnaire which is 11 items. Participants answer these items on a 4-point Likert scale from 1 (less than usual) to 4 (much more than usual) at baseline.
3. Pain is measured using a visual analogue scale (VAS) at baseline.
4. Anxiety and depression for adults is measured by the Hospital Anxiety and Depression Scale which is 14 items. Participants answer these items on a 4-point Likert scale at baseline.
5. Anxiety and depression for children and young people is measured by the Revised Children’s Anxiety and Depression Scale which is 47 items. Participants answer these items on a 4-point Likert scale from 1 (never) to 4 (always) at baseline.

 

crossposted with Yann

The PROMs don't look too bad. But I question why it is necessary to collect anxiety and depression data with specific tools (47 items for children) for a study attempting to find a disease with a genetic biomarker. Why not just include anxiety and depression as line items in the symptom survey? e.g. Anxiety 1 (none of the time) to 4 (all of the time). (by the way, the directions on their likert scales are muddled up)

I think you could make a stronger case for having a detailed PEM survey than a detailed anxiety and depression survey, if you are trying to differentiate any people found to have the rare diseases from people with ME/CFS.

 

For more discussion of Esther Crawley's possible retirement, see here:
Esther Crawley