Diagnostic journey and treatment disparities for adults with spinal muscular atrophy at MedStar Health

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 project uses a two-phase approach to document diagnostic timelines, genetic testing, treatment history, and demographic factors for adults with SMA treated within the MedStar Health system. Phase 1 is a retrospective chart review of up to 200 patients to identify patterns of diagnosis, genetic confirmation, and treatment uptake. Phase 2 invites eligible adults to one 60-minute telephone interview to discuss their diagnostic experiences, understanding of SMA, access to therapies, and barriers encountered. The combined data will be used to describe disparities in treatment and care coordination within this regional health system.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* SMA diagnosis, age greater than or equal to 18 years

Exclusion Criteria:

* Deceased

Where it's running

• MedStar Health Research Institute
  Washinton, District of Columbia, United States Recruiting

Study contacts

• Study coordinator: Gabrielle Edwards, BS
• Email: gabrielle.edwards@medstar.net
• Phone: 2022219998

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.