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

Recruiting

• Conditions: Spinal Muscular Atrophy

• Registration Number: NCT05768048
• Lead Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS

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.

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 Timeline

• Study Start: 2022-11-28
• Status Verified: 2023-03
• Study First Submitted: 2023-03-02
• Study First Submitted QC: 2023-03-02
• Last Update Submitted: 2023-03-02
• Study First Posted: 2023-03-14
• Last Update Posted: 2023-03-14
• Primary Completion: 2027-11-27
• Study Completion: 2027-11-27

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 500

Inclusion Criteria

all patients with mutationsin the SMAN1 gene

Exclusion Criteria

unable to proviude consent

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
motor function using the HFMSE (min score 0, max 74 indicating best performance)	5 years	motor scale

Trial Locations

Locations (5)

Istituto Gaslini; 🇮🇹 Genova, Italy

Centro Clinico nemo; 🇮🇹 Milano, Italy

Ospedale Bambino gesu; 🇮🇹 Rome, Italy

Policlinico gemelli; 🇮🇹 Rome, Italy

Nemo Sud; 🇮🇹 Messina, Italy