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

NCT ID: NCT05866939

Last Updated: 2023-05-19

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 400 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2023-06-30
• Study Completion Date: 2025-06-30

Brief 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.

Detailed 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.

Conditions

Spinal Muscular Atrophy

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Eligibility Criteria

Inclusion Criteria

• All SMA patients

Exclusion Criteria

• Inability to understand or to provide informed consent.

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Ospedale Pediatrico Bambin Gesù

OTHER

Sponsor Role: collaborator

IRCCS Eugenio Medea

OTHER

Sponsor Role: collaborator

Azienda Ospedaliera Universitaria Policlinico "G. Martino"

OTHER

Sponsor Role: collaborator

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Other Identifiers

5496

Identifier Type: -

Identifier Source: org_study_id