NCT05755451

Brief Summary

This is an investigator initiated observational study with the aim to record several aspects of function, care and adverse events in a large cohort of SMA patients followed longitudinally by using a structured academic disease registry.

Trial Health

77
On Track

Trial Health Score

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

Enrollment
1,200

participants targeted

Target at P75+ for all trials

Timeline
93mo left

Started Jun 2018

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 Progress51%
Jun 2018Dec 2033

Study Start

First participant enrolled

June 21, 2018

Completed
4.6 years until next milestone

First Submitted

Initial submission to the registry

February 8, 2023

Completed
26 days until next milestone

First Posted

Study publicly available on registry

March 6, 2023

Completed
10.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 30, 2033

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 30, 2033

Last Updated

March 6, 2023

Status Verified

February 1, 2023

Enrollment Period

15.5 years

First QC Date

February 8, 2023

Last Update Submit

March 2, 2023

Conditions

Muscular Atrophy, Spinal

Keywords

natural historyspinal muscular atrophy

Outcome Measures

Primary Outcomes (1)

  • motor function

    functional scales Hammersmith Functional motor scale, (minimum score 0, maximum score 74 indicating best performance

    15 years

Secondary Outcomes (2)

  • respiratory function

    15 years

  • nutrition

    15 years

Eligibility Criteria

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

all pèatients with mutations in the SMN1 gene

You may qualify if:

  • all patients

You may not qualify if:

  • if enrolled in clinical trials

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

Study Officials

  • Eugenio Mercuri, MD

    F Policlinico Gemelli IRCCS

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Eugenio Mercuri, MD

CONTACT

06 3015eugeniomaria.mercuri@policlinicogemelli.it

Marika Pane, MD

CONTACT

063015marika.pane@policlinicogemelli.it

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Target Duration
15 Years
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

February 8, 2023

First Posted

March 6, 2023

Study Start

June 21, 2018

Primary Completion (Estimated)

December 30, 2033

Study Completion (Estimated)

December 30, 2033

Last Updated

March 6, 2023

Record last verified: 2023-02

Data Sharing

IPD Sharing
Will not share

aggregate data only

Locations

IT(5)