Ignite Creation Date:
2024-05-06 @ 6:44 PM
Last Modification Date:
2024-10-26 @ 2:53 PM
Study NCT ID:
NCT05768048
Status:
RECRUITING
Last Update Posted:
2023-03-14
First Post:
2023-03-02
Brief Title:
Long Term Trajectories of SMA Patients Receiving or Not Disease-modifying Treatments
Sponsor:
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Organization:
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Study Overview
Official Title:
SMA Natural History Study Evaluating Long Term Trajectories of SMA Patients Receiving or Not Disease-modifying Treatments
Status:
RECRUITING
Status Verified Date:
2023-03
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:
This is an observational multicenter retrospective and prospective study on natural history of SMA also considering the new natural history secondary to the availability of commercially available therapies
All the patients enrolled to date in the Italian registry if not part of clinical trials will be included in the present study
All the patients enrolled to date in the Italian registry if not part of clinical trials will be included in the present study
Detailed Description:
This is an observational multicenter retrospective and prospective study on natural history of SMA also considering the new natural history secondary to the availability of commercially available therapies
All patients affected by Spinal Muscular Atrophy 5q irrespective of genotype phenotype age treatment status or gender will be enrolled in the study
The study aims to i better understand the natural history of the disease in untreated patients in terms of functional aspects concomitant illnesses quality of life ii describe the patterns of disease progression in treated and untreated patients in terms of functional aspects concomitant illnesses quality of life iii Describe all the patients treated with the available therapies in Italy in terms of demographic age location etc and epidemiological data All data from patients included in the study will be collected at each visit following the clinical care protocols of each centre Following care recommendation patients are generally routinely assessed at least every 6 months and in many cases every 4 months
We plan to obtain
Longitudinal changes in untreated patients The possibility to access reliable retrospective data will provide the opportunity to record long term functional data in untreated patients
Yearly analysis of longitudinal changes in treated patients
Two-year results of the validation of new measures SMA HI SMAIS reporting the validation process inter- and intra-observer reliability internal consistency and changes in relation to functional measures
All patients affected by Spinal Muscular Atrophy 5q irrespective of genotype phenotype age treatment status or gender will be enrolled in the study
The study aims to i better understand the natural history of the disease in untreated patients in terms of functional aspects concomitant illnesses quality of life ii describe the patterns of disease progression in treated and untreated patients in terms of functional aspects concomitant illnesses quality of life iii Describe all the patients treated with the available therapies in Italy in terms of demographic age location etc and epidemiological data All data from patients included in the study will be collected at each visit following the clinical care protocols of each centre Following care recommendation patients are generally routinely assessed at least every 6 months and in many cases every 4 months
We plan to obtain
Longitudinal changes in untreated patients The possibility to access reliable retrospective data will provide the opportunity to record long term functional data in untreated patients
Yearly analysis of longitudinal changes in treated patients
Two-year results of the validation of new measures SMA HI SMAIS reporting the validation process inter- and intra-observer reliability internal consistency and changes in relation to functional measures
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