Ignite Creation Date:
2024-05-06 @ 2:22 PM
Last Modification Date:
2024-10-26 @ 1:29 PM
Study NCT ID:
NCT04292574
Status:
RECRUITING
Last Update Posted:
2022-10-17
First Post:
2020-02-28
Brief Title:
UK SMA Patient Registry
Sponsor:
Newcastle University
Organization:
Newcastle University
Study Overview
Official Title:
Spinal Muscular Atrophy Patient Registry of the United Kingdom and Ireland
Status:
RECRUITING
Status Verified Date:
2024-07
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Spinal muscular atrophy SMA is a form of motor neuron disease most commonly caused by a mutation in the survival motor neuron 1 gene SMN1 which results in a wide disease spectrum affecting children and adults It is an autosomal recessive disorder and is therefore caused by inheritance of a mutated gene from each parent All forms of SMA have an estimated combined incidence of 1 in 6000 to 1 in 10000 live births with a carrier frequency of 140 to 160
The patient registry aims to facilitate a questionnaire-based research study in order to better characterise and understand the disease in the UK and in Ireland Entry is via self-registration over a secure internet connection httpswwwsma-registryorguk Online patients are asked to read an information sheet about the research project and then indicate their consent to demonstrate willingness to participate Following online consent subjects will be entered into the registry This is an on-going database and all participants are invited to update their information on a biannual basis
The patient registry aims to facilitate a questionnaire-based research study in order to better characterise and understand the disease in the UK and in Ireland Entry is via self-registration over a secure internet connection httpswwwsma-registryorguk Online patients are asked to read an information sheet about the research project and then indicate their consent to demonstrate willingness to participate Following online consent subjects will be entered into the registry This is an on-going database and all participants are invited to update their information on a biannual basis
Detailed Description:
Participants are asked to provide information by completing online questionnaires The medical questionnaire asks specific questions about their SMA diagnosis and their condition including their motor function requirement of assistance for feeding or breathing scoliosis contractures hospitalisations other illnesses medications and participation in clinical trials Additional short questionnaires collect information about patients experience of daily life their activities and quality of life also known as patient-reported outcome measures or PROMs Participants are asked to forward a copy of their genetic results to the registry
The registry collaborates closely with the clinical networks SMA REACH UK paediatric and Adult SMA REACH and with TREAT-NMD Alliance
The SMA REACH networks collect clinician-reported medical and functional assessment data from consented SMA patients who attend participating neuromuscular clinics in the UK Links between the SMA REACH clinical databases and the UK SMA Patient Registry have been developed to enable the consented sharing of limited and specific data Currently linkage enables the sharing of patient-level PROMs data collected by the registry with each patients SMA REACH clinic and with the SMA REACH coordination teams At clinic level the data informs patient care At project coordination level the data is aligned with clinical data collected by SMA REACH It is then anonymised analysed and reported to regulatory authorities as part of managed access agreements MAA for SMA therapies Future linkage will enable patient registry participants to view elements of their own clinical data entered into the SMA REACH database by their doctor
The registry collaborates closely with the clinical networks SMA REACH UK paediatric and Adult SMA REACH and with TREAT-NMD Alliance
The SMA REACH networks collect clinician-reported medical and functional assessment data from consented SMA patients who attend participating neuromuscular clinics in the UK Links between the SMA REACH clinical databases and the UK SMA Patient Registry have been developed to enable the consented sharing of limited and specific data Currently linkage enables the sharing of patient-level PROMs data collected by the registry with each patients SMA REACH clinic and with the SMA REACH coordination teams At clinic level the data informs patient care At project coordination level the data is aligned with clinical data collected by SMA REACH It is then anonymised analysed and reported to regulatory authorities as part of managed access agreements MAA for SMA therapies Future linkage will enable patient registry participants to view elements of their own clinical data entered into the SMA REACH database by their doctor
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None