International SMA Consortium Spinal Muscular Atrophy Patient Registry (iSMAC SMA Registry)

Trial Name

International SMA Consortium Spinal Muscular Atrophy Patient Registry (iSMAC SMA Registry)

What is the trial about?

SMAC is an ongoing data collection effort for Spinal Muscular Atrophy, or “SMA”. The main purpose of this research study is to learn more about the disease and the response to treatment. We hope that by collecting and analyzing this information will improve care of those with SMA.

Who can participate?

All patients with SMA who receive care at Nemours Children’s Hospital are eligible to participate in this natural history registry. Other patients with SMA at 4 other sites in the United States and at sites in the United Kingdom and Italy will also participate in this Registry.

What is involved?

There are no additional procedures, clinic visits or expectations from you as a result of participation in the iSMAC SMA Patient Registry. By agreeing to be in the Registry, you allow a staff member from our SMA clinic to review your medical records and enter information into an electronic form that is sent to the University of Rochester that is analyzing and storing data. This de-identified data will be sent electronically throughout the year to the sponsor of the registry — Biogen.

A summary of your child’s health (height, weight, genetic test results and physical therapy assessments) and treatments (medications and other therapies) will be submitted electronically through the Electronic Medical Records System. There are no experimental procedures that are part of this study. De-identified information will be collected and shared with the sponsor of the study and other centers. There are two types of visits that your child will have to undergo as a part of standard treatment. Baseline visit (initial visit) and the follow- up visits one to four times a year. All the procedures that are performed at clinic visits are part of the standard treatment that your doctor schedules for you.

Data will be collected as a result of the following standard treatment procedures:

• Interviews: You and possible your child with SMA will be asked questions about your child’s family, medical history, surgical history and medication use. This includes:
  1. Demographic Information (date of birth, sex, country of residence)
  2. Genetic information (SMA related details, genetic testing’s result 5q-SMA)
  3. Therapies received
  4. Medications taken
  5.Any history of taking nusinersen (Spinraza) and if there were any side-effects attributed to the spinal tap or due to the drug itself.
• Physical Exam: Your child will have an exam preformed at each neuromuscular clinic visit, including measurements of weight, height, blood pressure, heart rate and respiratory rate, general physical and a detailed neurological exam and standard motor (movement) assessment performed by physical therapists. This includes:
  1. Growth information, for example, height, weight, head size, chest size
  2. Blood pressure, respiratory rate, pulse rate and temperature
  3. Motor function
• Questionnaires: Your child will be asked to complete questionnaires. These questionnaires will tell us about your child’s quality of life, if there has been any change in how he or she is able to do things, and how your child feels about what he or she can do.
• Physical Therapy testing: This will include evaluation of your child’s strength, joint flexibility and muscle function. SMA-specific motor function scales will be used.
• Blood, Urine, Spinal Fluid and Body Tissue Samples: Leftover blood, urine, spinal fluid, muscle tissue or skin specimens collected during the standard of care visit may be stored for future research purposes only if you agree and sign this consent prior to the specimen collection. These specimens will be send to a laboratory at Columbia University in New York.