Personalized Medicine for SMA: a Translational Project

NCT05779956 | Unknown

• 1 other identifier: 3730
• Study Type: observational
• Target: 90
• Locations: 1 country
• Sites: 2

Brief Summary

Major breakthroughs in the treatment for Spinal muscular atrophy (SMA) have been recently achieved with various therapeutic approaches that increase full-length SMN protein levels. The variability observed following the advent of commercial availability of Nusinersen for all types of SMA has highlighted the need to identify tools that may allow to predict possible therapeutic responses. The aim of this project is to establish whether an integrated approach using clinical, imaging (muscle MRI) and circulating biomarkers, can provide the possibility to develop a predictive model of therapeutic response to novel therapies for SMA patients. More specifically we wish to establish the correlation between clinical response, different biomarkers indicative of central nervous system efficacy (e.g. determination of neurofilaments levels), and markers that provide evidence of the skeletal muscle response (e.g. serum myostatin and muscle imaging) in different types of SMA

Conditions

Spinal Muscular Atrophy

Keywords

biomarkers,; spional muscular atrophy;; outcome

Outcome Measures

Primary Outcomes (3)

• neurofilament levels

  serum and CSF neurofilament levels to be determined n relation to age and severity

  3 years

• miostatin levels

  Serum levels to be determined in relation to age and severity

  3 years

• Hammesrmith Functional motor Scale expanded

  motor functional scale, minimum score 0, maximum score 74 indicating best performance

  3 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

all pèatients withj a genetically confirmed diagnosis of 5Q spinal muscular atrophy who receive a treatment as part of standards of care

You may qualify if:

• \* All patients with SMA undergoing one of the treatments provided as standards of care

You may not qualify if:

• untreated patients
• patients/crarers unwilling to sign consent

Sponsors & Collaborators

• Fondazione Policlinico Universitario Agostino Gemelli IRCCS: lead
• University of Milan: collaborator
• Ospedale Pediatrico Bambino Gesu: collaborator

Study Sites (2)

Ospedale Bambino gesu

Rome, Italy

RECRUITING

Policlinico gemelli

Rome, Italy

RECRUITING

Biospecimen

Retention: SAMPLES WITHOUT DNA

serum and cerebrospinal fluid (CSF)

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Study Officials

• Eugenio Mercuri, MD

  F Policlinico Gemelli IRCCS

  PRINCIPAL INVESTIGATOR

Central Study Contacts

eugenio Mercuri, MD

CONTACT

063015; eugeniomaria.mercuri@policlinicogemelli.it

Marika Pane

CONTACT

063015; marika.pane@policlinicogemelli.it

Study Design

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

Study Record Dates

• First Submitted: February 27, 2023
• First Posted: March 22, 2023
• Study Start: September 1, 2021
• Primary Completion: August 31, 2024
• Study Completion: August 31, 2024
• Last Updated: March 22, 2023

Record last verified: 2023-02

Data Sharing

• IPD Sharing: Will not share

Locations

IT (2)