Development of a Multidisciplinary Network for Clinical and Laboratory Research for SMA

Spinal Muscular Atrophy Clinical Trial

Official title:

Development of a Multidisciplinary Network for Clinical and Laboratory Research for Spinal Muscular Atrophy and Other Rare Motoneuron Diseases

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT05866939
• Other study ID #: 5496
• Status: Not yet recruiting
• Start date: June 30, 2023
• Est. completion date: June 30, 2025

Study information

• Verified date: April 2023
• Source: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

The goal of this observational study is to to establish profiles of clinical progression in patients affected by the different types of SMA (type I, II and III) treated with the currently approved drugs using a structured battery of clinical tests.

Another goal of the study is to assess the progression of the disease in patients identified through neonatal screening.

Description:

The collection of 2-year longitudinal clinical data will be conducted in newly treated patients at baseline, 6-, 12-, 14- and 22-months post-treatment. Parameters will include motor function, fatigability, respiratory function, event-free survival and death, and swallowing and feeding modalities. It is anticipated that at least 30 new patients will be enrolled in the study.

Importantly, information will also be collected on patients who may decide to switch treatment during the duration of our study, trying to establish if the switch to a new drug (or as an add-on should patients take a new treatment after being treated with gene therapy) may be associated with changes in clinical phenotype.

The aim is to apply a newly established clinical protocol that allows identifying minor signs of disease that are easily missed in the absence of an NBS-detected diagnosis. Indeed, not all infants identified as SMA-positive through the NBS are truly asymptomatic, as a proportion of them may appear paucisymptomatic and their minor signs could be possibly not detected in the absence of a positive screening test.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 400
• Est. completion date: June 30, 2025
• Est. primary completion date: June 30, 2024
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• All SMA patients

Exclusion Criteria:

• Inability to understand or to provide informed consent.

Related Conditions & MeSH terms

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

Locations

Country	Name	City	State
n/a

Sponsors (4)

Lead Sponsor	Collaborator
Fondazione Policlinico Universitario Agostino Gemelli IRCCS	Azienda Ospedaliera Universitaria Policlinico "G. Martino", IRCCS Eugenio Medea, Ospedale Pediatrico Bambin Gesù

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Establish profiles of clinical progression in patients affected by the different types of SMA (type I, II and III) treated with the currently approved drugs using a structured battery of clinical tests.		2-year
Primary	Assess the progression of the disease in patients identified through neonatal screening		2-year
Primary	Identification of molecular biomarkers that associate with disease course and response to therapies		2-year