Long Term Trajectories of SMA Patients Receiving or Not Disease-modifying

Status Recruiting

Clinical Trial 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.

Clinical Trial 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 ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT05768048
Study type	Observational
Source	Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Contact	Eugenio Mercuri, MD
Phone	063015
Email	eugeniomaria.mercuri@policlinicogemelli.it
Status	Recruiting
Phase
Start date	November 28, 2022
Completion date	November 27, 2027

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See also
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Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.

Long Term Trajectories of SMA Patients Receiving or Not Disease-modifying Treatments

Clinical Trial Summary

Clinical Trial Description

Study Design

Related Conditions & MeSH terms