NCT05768048

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
500

participants targeted

Target at P75+ for all trials

Timeline
18mo left

Started Nov 2022

Longer than P75 for all trials

Geographic Reach
1 country

5 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress71%
Nov 2022Nov 2027

Study Start

First participant enrolled

November 28, 2022

Completed
3 months until next milestone

First Submitted

Initial submission to the registry

March 2, 2023

Completed
12 days until next milestone

First Posted

Study publicly available on registry

March 14, 2023

Completed
4.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

November 27, 2027

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

November 27, 2027

Last Updated

March 14, 2023

Status Verified

March 1, 2023

Enrollment Period

5 years

First QC Date

March 2, 2023

Last Update Submit

March 2, 2023

Conditions

Spinal Muscular Atrophy

Outcome Measures

Primary Outcomes (1)

  • motor function using the HFMSE (min score 0, max 74 indicating best performance)

    motor scale

    5 years

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

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

You may qualify if:

  • all patients with mutationsin the SMAN1 gene

You may not qualify if:

  • unable to proviude consent

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (5)

Istituto Gaslini

Genova, Italy

RECRUITING

Nemo Sud

Messina, Italy

RECRUITING

Centro Clinico nemo

Milan, Italy

RECRUITING

Ospedale Bambino gesu

Rome, Italy

RECRUITING

Policlinico gemelli

Rome, Italy

RECRUITING

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord DiseasesCentral Nervous System DiseasesNervous System DiseasesMotor Neuron DiseaseNeurodegenerative DiseasesNeuromuscular Diseases

Central Study Contacts

Eugenio Mercuri, MD

CONTACT

063015eugeniomaria.mercuri@policlinicogemelli.it

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

March 2, 2023

First Posted

March 14, 2023

Study Start

November 28, 2022

Primary Completion (Estimated)

November 27, 2027

Study Completion (Estimated)

November 27, 2027

Last Updated

March 14, 2023

Record last verified: 2023-03

Data Sharing

IPD Sharing
Will not share

only aggregate data are allowed from consent

Locations

IT(5)