While we are dedicated to educating the public about SMA and its effects, we also want to provide healthcare professionals with the necessary tools to enhance their knowledge of the disease. It is our hope that through shared data and information, our research community will enrich the quality of care and support available to SMA families.
Medical Advisory Council members are available to provide continuing medical education to medical providers. Please contact Page Kirkpatrick at firstname.lastname@example.org for further information.
Cure SMA Conference Medical Presentations
- 2017 Conference Presentation: Getting the Most Out of What You Eat! Nutrition for Oral Feeders
- 2017 Conference Presentation: Orthopedic Management
- 2017 Conference Presentation: Standing, Walking, and Mobility - Decision-making and Options
- 2017 Conference Presentation: The Role of PT and OT in Your Child's Life - Being Part of the Team!
- 2017 Conference Presentation: Tube Feeding and SMA - Recommendations and Practices
- 2017 Conference Presentation: Women's Health in SMA
- 2017 Conference Presentation: Genetics and Reproductive Options for SMA Families
- 2017 Conference Presentation: Ethics and Realities in SMA Research and Emerging Therapies
- 2017 Conference Presentation: Medical Management of Adults with SMA
- 2017 Conference Presentation: SMA and Emergencies
- 2017 Conference Presentation: Choices to Optimize Care and Quality of Life
- 2017 Conference Presentation: "I Need to Cough": Ways to Keep Your Airways Clear
- 2017 Conference Presentation: Breathing Strong All Day Long
- 2016 Conference Optimal Care for Type I SMA Presentation
- 2016 Conference Optimal Care for Type II-III SMA Presentation
- 2016 Conference Recognizing and Managing Pain in SMA Presentation
SMA Clinical Care Evidence
Cure SMA-Funded Articles
- Respiratory muscle function in infants with spinal muscular atrophy type I. Finkel RS, Weiner DJ, Mayer OH, McDonough JM, Panitch HB. Pediatr Pulmonol. 2014 Apr 29. doi: 10.1002/ppul.22997.
- Assessing the Needs of the SMA Population: Survey Results of Health Care Providers and Families. Halanski MA, Patterson KG, Sund SA, Makholm LM, Schroth MK. SAGE Open. October-December 2014: 1–5.
- 209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands. Finkel R, Bertini E, Muntoni F, Mercuri E; ENMC SMA Workshop Study Group. Neuromuscul Disord. 2015 Apr 28. pii: S0960-8966(15)00134-0.
- Responses to Fasting and Glucose Loading in a Cohort of Well Children with Spinal Muscular Atrophy Type II. Davis RH, Miller EA, Zhang RZ, Swoboda KJ. J Pediatr. 2015 Oct 7. pii: S0022-3476(15)01027-6.
- Understanding the experiences and needs of individuals with Spinal Muscular Atrophy and their parents: a qualitative study. Qian Y, McGraw S, Henne J, Jarecki J, Hobby K, Yeh WS. BMC Neurol. 2015 Oct 24;15(1):217.
- Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study. Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Iannaccone ST, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Cudkowicz ME, McGovern MM, McNeil DE, Finkel R, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AH, Bartlett A, Kissel JT; NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators. Ann Clin Transl Neurol. 2016 Jan 21;3(2):132-45. doi: 10.1002/acn3.283. eCollection 2016 Feb.
- Nutritional Status and Nutrient Intake Challenges in Children With Spinal Muscular Atrophy. Mehta NM, Newman H, Tarrant S, Graham RJ. Pediatr Neurol. 2016 Apr;57:80-3. doi: 10.1016/j.pediatrneurol.2015.12.015. Epub 2015 Dec 24. PMID: 26803333
- What Matters Most: A Perspective From Adult Spinal Muscular Atrophy Patients. Hunter M, Heatwole C, Luebbe E, Johnson NE. J Neuromuscul Dis. 2016 Aug 30;3(3):425-429.
- Opening the window: The case for carrier and perinatal screening for spinal muscular atrophy. Burns JK, Kothary R, Parks RJ. Neuromuscul Disord. 2016 Sep;26(9):551-9.
- An Evaluation of a Continuing Education Program for Family Caregivers of Ventilator-Dependent Children with Spinal Muscular Atrophy (SMA). Boroughs D. MDIP. Children (Basel. 2017 May; 4(5): 33. doi:10.3390/children4050033.
- The Experience of Families with Children with Spinal Muscular Atrophy Type I Across Health Care Systems. Crawford CA, Farber HJ, Lotze TE, Murrell DV, Weimann CM. J Child Neurology. 2017 Jul. 3.
Other Clinical Care Evidence
- The Lancet Published Data from Phase 2, open-label trial of Spinraza in Infants
- 'Dawn of a New Therapeutic Era for Spinal Muscular Atrophy' - The Lancet
- Correlation Between the Degree of Correction of Neuromuscular Scoliosis and Patient Quality of Life
- Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool
- ACOG Committee Opinion - Carrier Screening for Genetic Conditions
- Noninvasive Respiratory Management of Patients with Neuromuscular Disease
- Infants and children with SMA treated with nusinersen in clinical trials: experience of risk for respiratory or other events with repeat anesthesia/sedation for intrathecal administration
Medical Education Tools
On September 30, 2016, experts in SMA care met to present and discuss the latest discoveries and options for optimizing care. The meeting was organized by The University of Pennsylvania's Penn Medicine and was co-sponsored by AveXis, Inc. and the Orphan Disease Center.
The following information is from the 2016 Spinal Muscular Atrophy (SMA) Symposium on Optimizing Care. Cure SMA has permission from the conference and presenters to share the presentations and audio files below.
SMA Diagnosis/Pathology - John Brandsema, MD, Div. of Neurology, The Children's Hospital of Philadelphia
Novel Disease Modifying Therapeutics - Basil Darras, MD, Div. of Neurology, Boston Children's Hospital
SMA Functional Assessment - Allan Glanzman, PT, DPT, PCS, Dept. of Physical Therapy, The Children's Hospital of Philadelphia
Person-Reported Outcome Measures - Amy Pasternak, PT, DPT, PCS, Dept. of Physical Therapy, Boston Children's Hospital
Decision Making in SMA - Thomas Crawford, MD, Div. of Neurology, Johns Hopkins Children's Center
Airway Clearance - When to Start, What to Use - Richard Shell, MD, Div. of Neurology, Nationwide Children's Hospital
Chronic Respiratory Failure & When to Start Ventilation - Howard Pantich, MD, Div. of Pulmonogly, The Children's Hospital of Philadelphia
Acute Management - Home and Inpatient - Robert Graham, MD, Div. of Critical Care, Boston's Children Hospital
Respiratory Range of Motion - Hank Mayer, MD, Div. of Pulmonogly, The Children's Hospital of Philadelphia
The Role of Exercise in SMA - Jacqueline Montes, PT, EdD, NCS, Dept. of Neurology, Columbia University Medical Center
Calorie Supplementation - When to Initiate & How - Donna DiVito, RD, CNSD, Div. of Gastroenterology and Nutrition, The Children's Hospital of Philadelphia
Gastrostomy Tube Management/Fundoplication - Thane Blinman, MD, Div. of General Surgery, The Children's Hospital of Philadelphia
Management of Contractures of the Upper Limb in SMA Patients - Daniel Zlotolow, MD, Div. of Orthopedics, Shriners Hospital for Children
Options for Management - Lower Extremity - David Spiegel, MD, Div. of Orthopedics, The Children's Hospital of Philadelphia
Novel Approaches for Assessing the Chest Wall & Spine - Robert Campbell, MD, Div. of Orthopedics, The Children's Hospital of Philadelphia
Options for Management - Growing Rods - Paul Sponseller, MD, Div. of Orthopedics, Johns Hopkins Children's Center
Options for Management - VEPTR - Patrick Cahill, MD, Div. of Orthopedics, The Children's Hospital of Philadelphia