Clinical Research


Research: Clinical Research

Another critical component of the SMA Foundation's portfolio is the clinical research infrastructure required for clinical trials. The SMA Foundation has invested over $15M in key clinical studies such as the Biomarkers for SMA study and the SMA Natural History Study. To provide the infrastructure for conducting these types of studies and for upcoming therapeutic trials, the SMA Foundation supported the establishment of the Pediatric Neuromuscular Clinical Research (PNCR) Network. The SMA Foundation has also supported national and international coordination and development of clinical trial resources through the International Coordinating Committee (ICC) for Clinical Trials in SMA.

The Pediatric Neuromuscular Clinical Research Network
The Pediatric Neuromuscular Clinical Research Network (PNCR) was founded by the SMA Foundation to establish a team of SMA clinical experts in the Northeast. It is a network of three clinical sites: Columbia University Medical Center, Boston Children's Hospital (BCH), Children's Hospital of Philadelphia (CHOP), Stanford Health Care, and Nemours Children's Health System and a data coordinating center at the University of Rochester. These clinics integrate clinical research, education, and care to build a patient base and a pool of SMA families interested in participating in clinical studies with the goal of achieving the best possible health outcomes and preparing for upcoming clinical trials. PNCR clinics offer patients access to clinicians in a range of specialties involved in medical care for SMA, including: neurology, pediatrics, genetics, psychiatry, pulmonology, nutrition, pediatric nursing, orthotics, respiratory therapy, physical therapy, occupational therapy, orthopedics, and neurosurgery.

The SMA Foundation has funded the PNCR since its inception. Through the PNCR, the Foundation has supported key clinical research studies such as the SMA Natural History Study, the BforSMA study, and the associated PNCR Tissue Repository.

Outcome Measure Development
The PNCR Network, along with the ICC, is actively working to develop and validate new outcome measures for SMA. Outcome measures are tests that can be used to quantitatively demonstrate the effect of a particular treatment or therapeutic intervention in patients with a specific disease.

PNCR clinical sites have made important contributions to the development of the following outcome measures:

  • Expanded Hammersmith Functional Motor Scale
  • 6-Minute Walk Test protocol for ambulatory SMA patients
  • MRI, DEXA in SMA
  • In-Home Pulmonary and Motor Function Monitoring
  • Gravity Neutral Orthotic design and evaluation for SMA
  • Electrical Impedance Myography (EIM) in SMA

SMA Natural History Study
The PNCR Network helped to characterize the SMA patient population and increase understanding of the stages of disease progression through the ongoing greater than 24 month SMA Natural History Study (NHS). Results of this study will assist in clinical trial planning. Learning more about a disease like SMA through such a study also enables clinicians to more easily evaluate the effectiveness of potential therapeutics. During the NHS, patients were evaluated regularly at one of the clinical sites - every two months for the first six months, every 3 months for the next 6 months, and every 6 months thereafter. Each visit was free of charge for the research participants. Patients underwent a number of evaluations to assess muscle strength, motor function, muscle mass, respiratory function, motor unit number, and quality of life. In addition, biological specimens like blood, urine, and skin biopsies were collected from some patients. Initial results of this study have been published by Kaufmann and colleagues, and additional analyses are underway. For more information about the NHS, please contact [email protected].