Kathryn J. Swoboda, MD, FACMG NBSTRN Meeting

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1 Kathryn J. Swoboda, MD, FACMG NBSTRN Meeting

2 SPOT SMA LPDR resource: overview of clinical research forms and overall database Feasibility and utility of a minimal common set of data elements vs. a more comprehensive set Strategies to encourage broad use of the SPOT SMA LPDR by providing access to a larger natural history database

3 Comprehensive medical evaluation Physical therapy evaluation Newly diagnosed patients with SMA Refer to multidisciplinary neuromuscular clinic Molecular confirmation of SMN1 and SMN2 dosage Genetic counseling Offer opportunity to enroll to the SPOT SMA LPDR

4 Other contributing sites Linked sample biorepository Other contributing sites Physician(s) MGH DCC REDCap Database NBSTRN LPDR REDCap Database Genetic counselor ecrf Other contributing sites Clinical coordinator or support staff Physical therapist

5 Capture of longitudinal follow-up data of individuals with SMA including: Newborns identified via NBS pilot(s) Symptomatic patients presenting at any age Opportunity to re-enroll patients previously in Project Cure SMA studies and trials Use of Globally Unique Identifier (GUID) to link prior and new data for individual sites enrolling patients

6 Confirmation of genetic diagnosis Documentation of informed consent Patient demographic information Parent/patient reported outcomes/quality of life Medical and family history Physical exam/anthropometrics/nutritional status Medications/Supplements Adverse Events Acquisition of gross motor milestones Key endpoints including survival/niv support Formal motor function assessments (PT) Ulnar CMAP amplitude (denervation status) DEXA for bone density/body composition Key metabolic and laboratory data

7 TIMPSI or CHOP INTEND HINE Motor Milestones HINE motor milestones WHO motor milestones BROOKE HFMSE for SMA Revised upper limb module Timed tests of function 10 meter walk, 2 or 6 minute walk, time up stairs, time up from floor, 9- hole peg test

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23 Targeted data collection to maximize efficiency in clinic Helps direct collection of most important items across centers to improve consistency and completeness of datasets Assist in clinical management by allowing easy queries for longitudinal followup

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25 Newborn to 18 months core items for LPDR Demographics/GUID assignment If death occurs, currently entered under demographics Med history module subsections Pregnancy, delivery and family history SMA diagnosis (genetic confirmation and SMN2 dosage) Current level of function Developmental history/acquisition of milestones Elective medical procedures Adverse medical events including acute/urgent visits Respiratory status (aids/therapies) Comorbid medical conditions/ issues Medications and supplements SMA specific medications (nusinersen, oral albuterol, etc) Physical and neurological exam Vitals and growth parameters: RR, chest and head circumference, length, weight Scoliosis and joint contractures Outcome measures (mandatory elements for academic centers) HINE* WHO* and CHOP-INTEND* If strong enough once > 18 months, HFMSE and RULM, etc

26 >18 Months to adult core items for LPDR Demographics/GUID assignment Med history module subsections Pregnancy, delivery and family history SMA diagnosis (genetic confirmation and SMN2 dosage) Current level of function Developmental history/acquisition of milestones/hine Elective medical procedures Adverse medical events and other medical problems Medications and supplements Physical examination/growth parameters Outcome measures WHO + BROOKE*; HFSME, RULM, 2 or 6 minute walk test, timed tests of function as appropriate

27 Results returned to pediatrician Newborn screening Homozygous SMN1 deletion detected Subspecialty Neurology-based NBS followup 1) Comprehensive Medical Evaluation 2) Physical therapy evaluation 3) Genetic counseling 4) Enroll in the SPOT SMA study Refer to multidisciplinary neuromuscular clinic Postnatal confirmation of SMA with SMN1 and SMN2 dosage Data collection and entry to NBSTRN SPOT SMA LPDR for longitudinal follow up Confirmed Normal False positive ie hybrid SMN1/2 etc, no further action

28 Project CureSMA Investigators Network NICHD Tiina Urv Rodney Howell Melissa Parisi CureSMA Jill Jarecki Kenneth Hobby Spencer Perlman MGH Ren Zhang Sarah Simeone Elise Townsend Jin Yun (Helen) Chen Laura Schwartz Kendall Trautman Gisel Dannehl Savanah Cosby Flavia Nery Maryam Fatouraei Duhman Muhtaseb Ohio State University Tom Prior Northwestern University Kristin Krosschell Biogen Sandra Reyna Cynthia Jones NBSTRN/ACMG/DCC Amy Brower Mike Watson Jennifer Loutrel Michael Kuhlmann