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

Spinal Muscular Atrophy Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05768048
• Other study ID #: 4863
• Status: Recruiting
• Start date: November 28, 2022
• Est. completion date: November 27, 2027

Study information

• Verified date: March 2023
• Source: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
• Contact: Eugenio Mercuri, MD
• Phone: 063015
• Email: eugeniomaria.mercuri[@]policlinicogemelli.it
• Is FDA regulated: No
• Study type: Observational

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.

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

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 500
• Est. completion date: November 27, 2027
• Est. primary completion date: November 27, 2027
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

all patients with mutationsin the SMAN1 gene

Exclusion Criteria:

unable to proviude consent

Related Conditions & MeSH terms

• Muscular Atrophy
• Muscular Atrophy, Spinal
• Spinal Muscular Atrophy

Locations

Country	Name	City	State
Italy	Istituto Gaslini	Genova
Italy	Nemo Sud	Messina
Italy	Centro Clinico nemo	Milano
Italy	Ospedale Bambino gesu	Rome
Italy	Policlinico gemelli	Rome

Sponsors (5)

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

Country where clinical trial is conducted

Italy, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	motor function using the HFMSE (min score 0, max 74 indicating best performance)	motor scale	5 years