Long Term Trajectories of SMA Patients Receiving or Not D... | NCT05768048

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

NCT05768048

Sponsor

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Status

Recruiting

Last Update Posted

Mar 14, 2023Actual

Enrollment

500Estimated

Phase

Not provided

Conditions

Spinal Muscular Atrophy

Interventions

Not provided

Countries

Italy

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Mar 2023

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Nov 28, 2022Actual

Primary Completion Date

Nov 27, 2027Estimated

Completion Date

Nov 27, 2027Estimated

First Submitted Date

Mar 2, 2023

First Submission Date that Met QC Criteria

Mar 2, 2023

First Posted Date

Mar 14, 2023Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Mar 2, 2023

Last Update Posted Date

Mar 14, 2023Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Sponsor

Lead Sponsor

Fondazione Policlinico Universitario Agostino Gemelli IRCCSOTHER

Collaborators

Name	Class
University of Milan	OTHER
Bambino Gesù Hospital and Research Institute	OTHER
University of Messina	OTHER
Gaslini Children's Hospital

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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

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

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

500Estimated

Outcomes Module

Primary Outcomes

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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

all patients with mutationsin the SMAN1 gene

Exclusion Criteria:

unable to proviude consent

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

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

Sampling Method

Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Eugenio Mercuri, MD	Contact	063015	5340	eugeniomaria.mercuri@policlinicogemelli.it

Overall Officials

Not provided

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Istituto Gaslini	Recruiting	Genova			Italy

IPD Sharing Statement Module

Plan to Share IPD

Description

only aggregate data are allowed from consent

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D009134	Muscular Atrophy, Spinal

Ancestor Terms

ID	Term
D013118	Spinal Cord Diseases
D002493	Central Nervous System Diseases
D009422	Nervous System Diseases
D016472	Motor Neuron Disease

Browse Leaves

Not provided

Browse Branches

Not provided