Ignite Creation Date:
2024-05-06 @ 8:23 PM
Last Modification Date:
2024-10-26 @ 3:26 PM
Study NCT ID:
NCT06365593
Status:
COMPLETED
Last Update Posted:
2024-04-15
First Post:
2024-03-01
Brief Title:
hATTR Polyneuropathy in Russia
Sponsor:
AstraZeneca
Organization:
AstraZeneca
Study Overview
Official Title:
A Multicenter Observational retrosPective Registry of patIents With Transthyretin aMyloid polynEuropathy hATTR-PN and chRonic Idiopathic Axonal Polyneuropathy CIAP in the Population of the Russian Federation
Status:
COMPLETED
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:
PRIMER
Brief Summary:
A multicenter observational retrosPective Registry of patIents with transthyretin aMyloid polynEuropathy hATTR-PN and chRonic idiopathic axonal polyneuropathy CIAP in the population of the Russian Federation PRIMER There are no comprehensive epidemiological data on patients with hereditary ATTR-PN hATTR-PN and CIAP in the Russian Federation Therefore there is a need to conduct a large-scale observational study in the Russian population to obtain information on clinical electrophysiological and demographic characteristics of patients with hATTR-PN and CIAP Obtaining the study data will help to identify the patients with axonal polyneuropathy who deserve TTR gene sequencing and therefore to allow early treatment and potentially modify disease progression in patients
Detailed Description:
Since the increasing number of treatments available to help slow the progression of neuropathy it is critical to timely identify and diagnose the ATTR-PN Early identification and intervention are also crucial to improve patient outcomes because newly available treatments have been shown to have maximum therapeutic benefit when started in the early stages of the disease
Identification of ATTRv amyloidosis with PN can be challenging particularly in non-endemic regions and a high level of suspicion is required to diagnose patients as early as possible
Previously proposed suspicion index of ATTRv amyloidosis was based on diseases red flags that is on the presence of a progressive polyneuropathy in addition to at least one red flag symptom suggestive of multi-systemic involvement However sometimes the demonstration of a progressive neuropathy requires follow-up evaluations risking wasting time Moreover some red flags eg cardiomyopathy or vitreous opacities need specialist evaluations that could be often lacking during the first neurological evaluation
Patients can present with heterogeneous symptoms and variable levels of disease severity which often leads to a misdiagnosis Early and accurate diagnosis may also be confounded by a lack of family history and the presence of various phenotypes common to multiple disease conditions such as GI disorders In fact CIAP still represents a common misdiagnosis for ATTRv patients
Study is planned to determine the principal differences between the hATTR-PN and CIAP patients and valorize them in a compound score which can help clinician through a specific cut-off to recognize patients deserving TTR genetic analysis The application of the compound score in patients with sensory-motor neuropathy may have a major role representing a screening tool to avoiding wasting time and therefore shortening the time to reach a correct diagnosis
Previously reported compound score included presence of muscle weakness and CTS history as clinical parameters and amplitude of Sensory action potential SAP Compound muscular action potential CMAP of the median and ulnar nerves CMAP of the tibial nerve as electrophysiological parameters Electrophysiological findings in this study showed that ATTRv patients although they had the same disease duration of CIAP patients had a greater reduction of amplitude of potentials in all nerves with a more frequently absence of potential at lower limbs and reduction at upper limbs
At the same time the landscape of mutations and phenotypes of ATTR amyloidosis are very different between countries which does not allow extrapolating the results from Italian study and there are no comprehensive epidemiological data on patients with hATTR-PN and CIAP in the Russian Federation
Therefore there is a need to conduct a large-scale observational study in the Russian population to obtain information on clinical electrophysiological and demographic characteristics of patients with hATTR-PN and CIAP Obtaining the study data will help to identify the patients with axonal polyneuropathy who deserve TTR gene sequencing and therefore to allow early treatment and potentially modify disease progression in patients
Identification of ATTRv amyloidosis with PN can be challenging particularly in non-endemic regions and a high level of suspicion is required to diagnose patients as early as possible
Previously proposed suspicion index of ATTRv amyloidosis was based on diseases red flags that is on the presence of a progressive polyneuropathy in addition to at least one red flag symptom suggestive of multi-systemic involvement However sometimes the demonstration of a progressive neuropathy requires follow-up evaluations risking wasting time Moreover some red flags eg cardiomyopathy or vitreous opacities need specialist evaluations that could be often lacking during the first neurological evaluation
Patients can present with heterogeneous symptoms and variable levels of disease severity which often leads to a misdiagnosis Early and accurate diagnosis may also be confounded by a lack of family history and the presence of various phenotypes common to multiple disease conditions such as GI disorders In fact CIAP still represents a common misdiagnosis for ATTRv patients
Study is planned to determine the principal differences between the hATTR-PN and CIAP patients and valorize them in a compound score which can help clinician through a specific cut-off to recognize patients deserving TTR genetic analysis The application of the compound score in patients with sensory-motor neuropathy may have a major role representing a screening tool to avoiding wasting time and therefore shortening the time to reach a correct diagnosis
Previously reported compound score included presence of muscle weakness and CTS history as clinical parameters and amplitude of Sensory action potential SAP Compound muscular action potential CMAP of the median and ulnar nerves CMAP of the tibial nerve as electrophysiological parameters Electrophysiological findings in this study showed that ATTRv patients although they had the same disease duration of CIAP patients had a greater reduction of amplitude of potentials in all nerves with a more frequently absence of potential at lower limbs and reduction at upper limbs
At the same time the landscape of mutations and phenotypes of ATTR amyloidosis are very different between countries which does not allow extrapolating the results from Italian study and there are no comprehensive epidemiological data on patients with hATTR-PN and CIAP in the Russian Federation
Therefore there is a need to conduct a large-scale observational study in the Russian population to obtain information on clinical electrophysiological and demographic characteristics of patients with hATTR-PN and CIAP Obtaining the study data will help to identify the patients with axonal polyneuropathy who deserve TTR gene sequencing and therefore to allow early treatment and potentially modify disease progression in patients
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None