Biomarker search in SMA using advanced multi-omics

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study uses multi-omics and translational methods to identify novel biomarkers for SMA. It will analyze biological samples from individuals with SMA to improve diagnostic accuracy, prognosis, and treatment monitoring. The study does not involve an intervention and will compare biomarker profiles across SMA patients and relevant controls when available. Inclusion covers genetically confirmed SMA patients and newborns diagnosed by screening, with consent obtained from guardians. Exclusion criteria rule out other neuromuscular diseases and recent participation in SMA trials to avoid confounding results.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Genetically confirmed diagnosis of SMA, with homozygous deletion or mutation of the SMN1 gene, for symptomatic patients.
* Diagnosis of SMA through newborn screening, with genetic confirmation, for newborns.
* Ability of parents/legal guardians to provide informed consent for minor patients.
* Willingness to undergo the study procedures, including blood sampling and collection of biological specimens.

Exclusion Criteria:

* Presence of other neuromuscular or neurological diseases that could influence the clinical phenotype and biomarker profile.
* Participation in other clinical trials involving investigational medicinal products for SMA within the 6 months prior to enrolment.
* Presence of medical or psychological conditions that could compromise patient compliance or study safety.
* Refusal to participate in the study or to provide informed consent.

Where it's running

• IRCCS Istituto Giannina Gaslini
  Genova, Italy Recruiting
• Fondazione Ca' Granda Ospedale Maggiore Policlinico
  Milan, Italy Recruiting
• Istituto di Bioscienze e Biorisorse IBBR
  Naples, Italy Recruiting

Study contacts

• Study coordinator: Claudio Bruno, MD
• Email: claudiobruno@gaslini.org
• Phone: +3901056362756

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Newborn SMA Screening Service Evaluation

  This project tests newborn SMA screening to see if it works well and is acceptable to families in the UK.

  Recruiting at 2 sites University of Oxford · London and 2 other locations · NCT07888868

• Effects of Different Stiffness Settings During Robotic Isokinetic Training in Children With SMA

  This study tests whether a portable knee-training robot with a compliant vs. rigid stiffness setting improves knee strength in children with spinal muscular atrophy, using each child’s other leg as a comparison.

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• Wearable monitoring of motor development in babies and young children with spinal muscular atrophy detected at birth

  This project will try wearing small motion sensors at home to see if they can track how babies and young children diagnosed with spinal muscular atrophy at birth move and develop, compared with healthy children.

  Recruiting University of Oxford · Oxford · NCT07543003

• HABIT-ILE plus Functional Strength Training for Children with SMA

  This study will try an intensive HABIT-ILE program combined with functional strength training for children aged 5–17 with SMA who are on stable disease-modifying therapy to see if it improves motor skills.

  Recruiting Teachers College, Columbia University · New York, New York · NCT07488338

• Long-read genetic analysis for Spinal Muscular Atrophy (LOREASI)

  This project tries a long-read DNA technique on adults with known SMN1 copy-number patterns to find hidden '2+0' carrier genotypes that standard tests miss.

  Recruiting University Hospital, Rouen · Rouen · NCT07332702

• Portable markerless video system to measure walking in adults with neuromuscular conditions or healthy volunteers.

  This project will test a portable video device that measures walking patterns to see if it can track gait changes in adults with neuromuscular diseases and in healthy volunteers.

  Recruiting Institut de Myologie, France · Paris · NCT07321977

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.