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Contact the study team using the details below to take part. If there are no contact details below please ask your doctor in the first instance.
Dr
Diana
Baralle
d.baralle@soton.ac.uk
Dr
Diana
Baralle
d.baralle@soton.ac.uk
More information about this study, what is involved and how to take part can be found on the study website.
Chromosomal abnormalities, not elsewhere classified
This information is provided directly by researchers, and we recognise that it isn't always easy to understand. We are working with researchers to improve the accessibility of this information. In some summaries, you may come across links to external websites. These websites will have more information to help you better understand the study.
PURA Syndrome was first described in 2014 in a small cohort of children, and since then just over 250 individuals have been identified to have the condition internationally. PURA syndrome typically causes severe developmental delay and intellectual disability. Many also suffer with hypotonia (severe floppiness), feeding difficulties and breathing abnormalities in infancy, and many develop seizures in early childhood. We are designing a longitudinal natural history study, with the aim to collect medical data on individuals with PURA Syndrome. We have designed a series of medical questionnaires that will be accessible internationally via the internet for families and clinicians of individuals with PURA Syndrome to complete. We hope this will improve our understanding of the effects of PURA Syndrome.
This study is eligible for inclusion into the Musketeers Memorandum.
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:
Observational type: Cohort study;
You can take part if:
You may not be able to take part if:
Any child or adult who is currently residing in a Country subject to UK sanctions or a Country on the USA State Sponsors of Terrorism list are excluded. The Countries currently excluded from the study are; Afghanistan, Belarus, Burma, Burundi, Central African Republic, Democratic Republic of Congo, Egypt, Eritrea, Republic of Guinea, Republic of Guinea-Bissau, Iran, Iraq, Lebanon, Syria, Libya, Mali, North Korea, Somalis, South Sudan, Sudan, The republic of Maldives, Tunisia, Ukraine, Venezuela, Yemen and Zimbabwe. It is likely the list of sanctioned Countries will change, if the participant was already involved in the study before sanctions were put in place, they can continue to be involved in the study. This list will be checked and updated annually and is the responsibility of the study administrative team. Data will only be analysed on patients who have a confirmed pathogenic mutation, duplication or deletion. Evidence of this must be from a genetic report, clinician letter or laboratory confirmation letter.
Below are the locations for where you can take part in the trial. Please note that not all sites may be open.
Dr
Diana
Baralle
d.baralle@soton.ac.uk
Dr
Diana
Baralle
d.baralle@soton.ac.uk
More information about this study, what is involved and how to take part can be found on the study website.
The study is sponsored by University of Southampton and funded by PURA SYNDROME FOUNDATION .
Your feedback is important to us. It will help us improve the quality of the study information on this site. Please answer both questions.
Read full details
for Trial ID: CPMS 42039
You can print or share the study information with your GP/healthcare provider or contact the research team directly.
