Patient participation

Your Voice Matters: Participatory Priority Setting for HNRNPU Gene Therapy 

The "Your Voice Matters" project is a participatory research initiative designed to capture the lived experiences of families affected by HNRNPU-related neurodevelopmental disorder. By involving families early in the research process, the team aims to ensure that future medical interventions (such as gene therapies) are developed with the priorities, needs, and well-being of the patient community at their core.

Project Objectives

The goal of this project is to understand more about daily life with this condition and how new treatments can make a meaningful difference to patients and their families. Key areas of focus include:

• Defining Success: Understanding what a "successful" treatment looks like for families.

• Evaluating Risks: Discussing tolerance for side effects and how families weigh risks against benefits.

• Identifying Unmet Needs: Highlighting gaps in current care and support.

• Developing PROMs: Using family insights to create Patient-Reported Outcome Measures that reflect real-world priorities.

Workshop Structure & Participation

The research team will host small, facilitated discussion groups (up to six families each) led by experts from Lab4Living, alongside Dr Emily Cottrell and other members of the HNRNPU team. 

• Who can attend: Parents, carers, family members, and individuals living with HNRNPU-NDD. Children are welcome to participate through adapted creative activities or engage in quiet play during the session.

• Formats: 

  • In-person: Held in an accessible venue in central Sheffield, UK (travel costs reimbursed).

  • Online: Conducted via Microsoft Teams for broader accessibility.

• Duration: Each session lasts approximately 2–3 hours.

• Incentive: Participating families receive a £30 thank-you amazon voucher.

Register your interest here!  

Your Voice Matters! Help shape the future for HNRNPU therapy  – Fill in form 

Frequently asked questions

What is the purpose of the workshop?

We are inviting families affected by HNRNPU-related neurodevelopmental disorder (HNRNPU-NDD) to take part in a series of workshops — either online or face-to-face — to share their experiences and perspectives. These sessions will bring together parents, carers, and, where possible, individuals living with HNRNPU-NDD.

The aim of the workshops is to help our research team better understand what life with HNRNPU-NDD is really like and what families hope future treatments, such as gene therapy, might achieve. We would especially like to hear your views on:

• Daily life with HNRNPU-NDD, including the biggest challenges.

• Attitudes towards gene therapy and other treatments for the condition - how you feel about these treatments and what questions or concerns you may have.

• What a “successful” treatment would look like — what kinds of changes or improvements would make the biggest difference for your child and family.

• Tolerance for possible side effects — how families weigh potential risks and benefits.

• Unmet needs — the areas where current care or support could be improved.

Your insights will directly shape how we design and measure the success of our future studies. The key themes that emerge from these workshops will guide the development of outcomes that truly reflect the priorities of patients and families.

We know from research that involving patients and families early in the research process leads to better, more meaningful results. Listening to lived experience helps ensure that new treatments are judged not only by medical tests, but also by how much they improve everyday life, comfort, independence, and wellbeing. Including patient-reported outcome measures (PROMs) in early-stage gene therapy development is now recognised internationally as best practice. This approach helps capture longer-term and more subtle benefits that might otherwise be missed and increases the relevance, acceptability, and ultimate success of new therapies.

By taking part, you will help make sure that future HNRNPU-NDD research focuses on what really matters most to the people who live with it every day.

What will the workshops involve? 

The workshops will be small, friendly discussion sessions where up to six families can share their experiences and ideas. You can join online or in person at our workshop held in Sheffield, UK.

Each session will last 2-3 hours. The session will be led by a facilitator from Lab4Living (Home - Lab4Living | Design for Health & Wellbeing | Sheffield Hallam University) experienced in working with families and children with rare conditions. Dr Emily Cottrell from the HNRNPU team will also be present throughout the sessions.

During the workshop, we’ll:

• Talk about what everyday life is like for your child and family.

• Explore what you think a successful gene therapy would mean for your child — what kinds of improvements would make the biggest difference.

• Discuss any hopes or worries you may have about gene therapy.

• Talk about side effects or risks and what you would consider acceptable.

• Identify areas where families feel there are still unmet needs — things that could make care and support better.

You’ll have plenty of opportunity to speak, listen, and ask questions. There are no right or wrong answers. We simply want to learn from your experiences.

Ahead of the sessions, we will be sending out a resource pack to participants with a few activities to work through in advance to help get the most out of the session.

What will be done with the information collected in the session?

We plan to record the sessions and will later transcribe the discussion to capture the key themes the emerge.

All video recordings and transcripts from the sessions will be stored in a secure University Google Drive that only the research team has access to. Any identifiable data will be removed from the transcripts. Personal information will be stored in a secure University Google folder that only the research team has access to.

Are children invited to attend?

Whilst the discussions within the workshops are mainly for parents and carers, if your child or young person would like to be involved, we would really welcome their contribution.  We can adapt part of the session and use creative activities to help them share their views in a comfortable way.

 They are also welcome to attend and play, relax or engage in quiet activities whilst you take part in the discussion.  If you’d like, you can bring another adult (such as a partner, relative, or friend) to help look after your child during the session so you can participate fully. Our team will make every effort to create a friendly and inclusive environment for everyone.

Who is eligible to attend? 

The workshops are open to parents, carers, and family members of children or adults with HNRNPU-NDD.
Where possible, we also welcome individuals living with HNRNPU-NDD who would like to share their own experiences or views.

How do the face to face and online workshops differ?

We know that every family’s situation is different, so we’re offering both face-to-face and online workshops to make it easier for everyone to take part.  We are really keen to hear from as many families as possible so an online option makes things more accessible to all.  

Face-to-Face Workshops

• Held at an accessible venue in central Sheffield with good transport links.

• A relaxed, small-group setting with members of the research team, other families and support staff.

• Sessions will be recorded and the transcription anonymised.

• Children are welcome to come along. There will be space for them to play or relax, and you’re welcome to bring another adult to help with childcare.

• Refreshments will be provided, and we’ll reimburse reasonable travel costs from within the UK.

• These sessions offer a chance to connect directly with other families and the research team in person.

Online Workshops                   

• Will take place via Teams video call.

• Sessions will be video recorded and the transcription will be anonymised.

• Suitable for families who live further away or prefer to join from home.

• The discussion topics are the same as in the face-to-face sessions — your views are just as important and will be included in the analysis.

• You’ll receive clear joining instructions before the session.

Both formats are equally valuable to our research. What matters most is that you feel comfortable taking part in a way that works best for your family.

What commitment are you looking for?

Families are invited to attend one of the main workshops. We will ask you to indicate on the interest form whether you would prefer to attend online or in person.

In addition, we are looking for 3 families to take part in initial scoping sessions to ensure the main sessions are pitched at the right level and as useful as they can be.

When are workshops likely to take place?

We plan to host an initial scoping session with a small number of families in March 2026 to help design the activities we’ll use in later workshops. 

Thereafter, we will schedule three separate workshops; one face to face session and two online sessions.  We hope these can all be scheduled for April/May 2026, and we will try to work with the availability you provide when you complete the interest form. Families can choose to join whichever session best suits them — either in person or online.

What kind of feedback will participants receive?

Once the sessions have all been completed and analysed, we will arrange an online meeting where we can feed back to you the key themes and findings from the work. If you are not able to attend this session, we can feedback to you via email.

Will we be paid for taking part?

We truly value the time and insight that families bring to this research. To recognise your contribution, each participating family will receive a £30 thank-you Amazon voucher after taking part in a workshop. This voucher is a token of appreciation for your time and effort, whether you join online or face-to-face session.