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

Sponsor
Fondazione Policlinico Universitario Agostino Gemelli IRCCS (Other)
Overall Status
Recruiting
CT.gov ID
NCT05768048
Collaborator
University of Milan (Other), Bambino Gesù Hospital and Research Institute (Other), University of Messina (Other), Gaslini Children's Hospital (Other)
500
Enrollment
5
Locations
60
Anticipated Duration (Months)
100
Patients Per Site
1.7
Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease Intervention/Treatment Phase

    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

    Study Design

    Study Type:
    Observational
    Anticipated Enrollment :
    500 participants
    Observational Model:
    Cohort
    Time Perspective:
    Prospective
    Official Title:
    SMA Natural History Study Evaluating Long Term Trajectories of SMA Patients Receiving or Not Disease-modifying Treatments
    Actual Study Start Date :
    Nov 28, 2022
    Anticipated Primary Completion Date :
    Nov 27, 2027
    Anticipated Study Completion Date :
    Nov 27, 2027

    Outcome Measures

    Primary Outcome Measures

    1. motor function using the HFMSE (min score 0, max 74 indicating best performance) [5 years]

      motor scale

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    Inclusion Criteria:

    all patients with mutationsin the SMAN1 gene

    Exclusion Criteria:

    unable to proviude consent

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Istituto Gaslini Genova Italy
    2 Nemo Sud Messina Italy
    3 Centro Clinico nemo Milano Italy
    4 Ospedale Bambino gesu Rome Italy
    5 Policlinico gemelli Rome Italy

    Sponsors and Collaborators

    • Fondazione Policlinico Universitario Agostino Gemelli IRCCS
    • University of Milan
    • Bambino Gesù Hospital and Research Institute
    • University of Messina
    • Gaslini Children's Hospital

    Investigators

    None specified.

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Fondazione Policlinico Universitario Agostino Gemelli IRCCS
    ClinicalTrials.gov Identifier:
    NCT05768048
    Other Study ID Numbers:
    • 4863
    First Posted:
    Mar 14, 2023
    Last Update Posted:
    Mar 14, 2023
    Last Verified:
    Mar 1, 2023
    Individual Participant Data (IPD) Sharing Statement:
    No
    Plan to Share IPD:
    No
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Additional relevant MeSH terms:
    Muscular Atrophy
    Muscular Atrophy, Spinal

    Study Results

    No Results Posted as of Mar 14, 2023