Data collection for adults with Spinal Muscular Atrophy

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

The Adult SMA REACH initiative is an observational study focused on gathering data to better understand the effects of existing treatments and standards of care on adults with Spinal Muscular Atrophy (SMA). This study builds on previous efforts in pediatric SMA research and aims to enhance patient care through collaboration with various organizations, including TREAT-NMD and the UK SMA Patient Registry. By collecting comprehensive data on the natural history of SMA and treatment outcomes, the study seeks to inform clinical decision-making and support future research initiatives. It involves patients aged 16 and older who have a genetically confirmed diagnosis of 5q SMA.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Age ≥16 years (when patients will begin the transition process to adulthood)
* Genetically confirmed diagnosis of 5q SMA
* Signed informed consent to take part in the study

Exclusion Criteria:

* Non-5q SMA
* No genetic confirmation
* \<16 years of age
* No signed informed consent or consent withdrawn

Where it's running

• University Hospitals Birmingham NHS Foundation Trust
  Birmingham, United Kingdom Recruiting
• North Bristol NHS Trust
  Bristol, United Kingdom Recruiting
• Cambridge University Hospitals NHS Foundation Trust
  Cambridge, United Kingdom Recruiting
• Cardiff and Vale University Health Board
  Cardiff, United Kingdom Recruiting
• NHS Greater Glasgow and Clyde
  Glasgow, United Kingdom Recruiting
• Bradford Teaching Hospitals NHS Foundation Trust
  Leeds, United Kingdom Recruiting

Study contacts

• Principal investigator: Prof Chiara Marini-Bettolo, MD, PhD — Newcastle-upon-Tyne Hospitals NHS Trust
• Study coordinator: Adult SMA REACH Team
• Email: nuth.adultsmareach@nhs.net
• Phone: +4401912418610

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

• Biomarker search in SMA using advanced multi-omics

  Researchers are trying to see if new biomarkers can help diagnose and monitor spinal muscular atrophy in patients and newborns.

  Recruiting at 3 sites Istituto Giannina Gaslini · Genova and 2 other locations · NCT07883655

• 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.

  Recruiting Peking University Third Hospital · Beijing · NCT07822711

• 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

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.