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

SMA Natural History Study Evaluating Long Term Trajectories of SMA Patients Receiving or Not Disease-modifying Treatments

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.

Study Overview

• Status: Recruiting
• Conditions: Spinal Muscular Atrophy

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 Type: Observational
• Enrollment (Anticipated): 500

Contacts and Locations

• Study Contact: Name: eugenio Mercuri, MD; Phone Number: 5340 063015; Email: eugeniomaria.mercuri@policlinicogemelli.it

Study Locations

• Italy
  • Genova, Italy
    • Recruiting
    • Istituto Gaslini
    • Contact: Claudio Bruno
  • Messina, Italy
    • Recruiting
    • Nemo Sud
    • Contact: Sonia Messina
  • Milano, Italy
    • Recruiting
    • Centro Clinico Nemo
    • Contact: Valeria Sansone
  • Rome, Italy
    • Recruiting
    • Ospedale Bambino Gesu
    • Contact: Adele D'Amico
  • Rome, Italy
    • Recruiting
    • Policlinico Gemelli
    • Contact: Eugenio Mercuri; Phone Number: 5340 063015; Email: eugeniomaria.mercuri@policlinicogemelli.it

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

All patients affected by Spinal Muscular Atrophy 5q, irrespective of genotype, phenotype, age, treatment status or gender

Description

Inclusion Criteria:

all patients with mutationsin the SMAN1 gene

Exclusion Criteria:

unable to proviude consent

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
motor function using the HFMSE (min score 0, max 74 indicating best performance)	motor scale	5 years

Collaborators and Investigators

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

Study record dates

Study Major Dates

• Study Start (Actual): November 28, 2022
• Primary Completion (Anticipated): November 27, 2027
• Study Completion (Anticipated): November 27, 2027

Study Registration Dates

• First Submitted: March 2, 2023
• First Submitted That Met QC Criteria: March 2, 2023
• First Posted (Actual): March 14, 2023

Study Record Updates

• Last Update Posted (Actual): March 14, 2023
• Last Update Submitted That Met QC Criteria: March 2, 2023
• Last Verified: March 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Neuromuscular Diseases; Neurodegenerative Diseases; Neuromuscular Manifestations; Pathological Conditions, Anatomical; Spinal Cord Diseases; Atrophy; Motor Neuron Disease; Muscular Atrophy; Muscular Atrophy, Spinal
• Other Study ID Numbers: 4863

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: only aggregate data are allowed from consent

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No