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Resources for Rare Disease Research

Rare Disease research often requires similar resources despite taking place across a range of different diseases. The exemplar resources on this page can be used in rare disease research at NIHR GOSH BRC to create cohesion and support best practice.

Introduction

Research across Rare Disease Cohorts often require and use similar resources despite occurring across a vast range of diseases. In order to create cohesion across rare disease research taking place at NIHR BRC at GOSH, we have created a platform for exemplar resources to be accessed and then used in your rare disease research. 

Guide

The Rare Disease Cohort Cross Cutting Theme has created a range of Standard Operating Procedures (SOPs) used across the research and translational processes. These can be used as guide when starting new research or when updating current studies to be in line with recommendations from the international rare disease research community.

Currently we have informed consent, both information sheets and consent forms for a variety of age groups in both disease groups and healthy controls. They include all recommended sections for informed consent so some sections may not be applicable to your research. Some sections require further information specific to your research to be added. It is important that informed consent is broad with the emphasis on ongoing updates to allow for flexible research, in which new technologies, platforms and work will not be hindered by outdated consent.

We are in the process of developing further resources such as laboratory SOPs. Please don’t hesitate to request similar materials and we will do our best to see if a solution exists.

FAQ

Do I have to use the informed consent forms?

No, these informed consent forms and information sheets are created to act as examples to help drive progress for rare disease research at GOSH ICH. They can be used as a guide or reference tool. Alternately they can be used as base to which you can build your specific research information too.

If I use the informed consent forms do I have to go through ethics?

Yes, as an exemplar these forms do not have study specific information on them so you need to edit them as appropriate and go through the standards ethics approval system.

Have these informed consent forms been seen by patients and public already.

No, as these resources are extremely generic we have not yet asked for input from patients and the general public. Best practice in research is that patient and the public should be involved in the development of these study specific forms. At GOSH we have Deidre Leyden is the PPIE lead who can help you meet patient, young people and parents in order to get their input on your research.

Contact

For further information and support from GOSH BRC you can contact:

Emily Robinson, emily.robinson@gosh.nhs.uk

Dauda Bappa, d.bappa@ucl.ac.uk 

ICH/GOSH Joint Research Office research.governance@gosh.nhs.uk

GOSH BRC PPI Research Lead Deidre Leyden deidre.leyden@gosh.nhs.uk 

If there are any resources you think would benefit the rare disease research at GOSH BRC please get in touch to discuss.

Consent/assent 

Parent Information Sheet (V1)

For parents of children with a rare disease to read when considering to give informed consent to be part of a research study.

Parent Information Sheet (V1) (24.58 KB)

Child Information Sheet - 8 years and under (V1)

For children with a rare disease aged 8 and under to read or be read to when considering taking part in a study.

Child Information Sheet - 8 years and under (V1) (35.91 KB) 

Child Information Sheet - 9-12 years (V1)

For children with a rare disease eligible for a research study to read and consider when giving assent.

Child Information Sheet - 9-12 years (V1) (17.4 KB)

Young Person Information Sheet - 13-16 years (V1)

For young people aged 13 – 16 years with a rare disease to read when considering to give assent to be part of a research study

Young Person Information Sheet - 13-16 years (V1) (19.04 KB)

Consent form - Parent of Participant (V1)

For parents of children with a rare disease to sign if giving informed consent for their child to be part of research.

Consent form - Parent of Participant (41.87 KB)

Assent form (V1)

For child/young people with the maturity level to understand and sign an assent form as part of the informed consent process when taking part in rare disease research.

Assent form (16.36 KB)

Consent form - 16 years + (V1)

For young people with a rare disease to sign to give their informed consent when taking part in rare disease research. 

Consent form - 16 years + (V1) (42.62 KB)

Consent form - healthy control (V1)

For parents of children to sign if giving informed consent for their child to be part of research as a healthy control. 

Consent form - healthy control (V1) (41.22 KB)

Assent form - healthy control (V1)

For child/young people with the maturity level to understand and sign an assent form as part of the informed consent process when taking part in research as a healthy control 

Assent form - healthy control (V1) (16.4 KB)

Consent form - participating parent (V1)

Consent form for participants to sign when giving informed consent when taking part in research as a parent of child with a rare disease. 

Consent form - participating parent (V1) (43.56 KB)

Lab-based protocols 

Processing of Venous blood for research Plasma SOP (V1)

Standard operating procedure to describe the collection, processing and storage of venous blood for plasma for research in rare diseases research as part of the NIHR GOSH BRC.

Processing of Venous blood for research Plasma SOP (31.38 KB)

Processing of Venous blood for research serum SOP (V1)

PBMC (V1)

Standard operating procedure to describe the collection, processing and storage of venous blood for Peripheral Blood Mononuclear Cells (PBMC) for research in rare diseases research as part of the NIHR GOSH BRC.

Rare Disease Cohorts - Exemplar SOP - PBMC (32.22 KB) 

Provenance Information (V1)

This resource highlights the important aspects of sample provenance.

Rare Disease Cohorts - Exemplar SOP - Provenance Information (43.45 KB)

Processing of urine SOP (V1)

Standard operating procedure to describe the collection, processing and storage of urine for research in rare diseases research as part of the NIHR GOSH BRC. Urine is able to be collected non- invasively and is easily accessible, making it a good candidate for a bio sample in which you can measure potential biomarkers including metabolites, cells, proteins and nucleic acids. Please note this protocol is optimized for NMR analysis of urine metabolomics.

Processing of urine SOP (27.88 KB)