Spinal Muscular Atrophy Type ISpinal Muscular Atrophy Type IISpinal Muscular Atrophy Type IIISMA
Investigational drug(s) / intervention(s)
Onasemnogene Abeparvovec-xioi
Onasemnogene Abeparvovec-xioi: Onasemnogene abeparvovec-xioi is a non-replicating recombinant adeno-associated virus serotype 9 containing the human survival motor neuron gene under the control of the cytomegalovirus enhancer/chicken β-actin-hybrid promoter. Onasemnogene abeparvovec-xioi administered as a one-time intravenous (IV) infusion or intrathecal (IT) injection. Dosage determined by participant weight.
Study summary
This is a long-term follow-up safety and efficacy study of participants in clinical trials for spinal muscular atrophy (SMA) who were treated with onasemnogene abeparvovec-xioi. Participants will roll over from their respective previous (parent) study into this long-term study for continuous monitoring of safety as well as monitoring of continued efficacy and durability of response to onasemnogene abeparvovec-xioi treatment.
Eligibility
Sex
ALL
Min age
—
Max age
—
Healthy volunteers
No
Inclusion Criteria:
* Any participant with SMA who received onasemnogene abeparvovec-xioi gene replacement therapy in a Novartis Gene Therapies-sponsored clinical study
* Participant/parent/legal guardian willing and able to complete the informed consent process and comply with study procedures and visit schedule
Exclusion Criteria:
* Parent/legal guardian unable or unwilling to participate in the long-term follow-up safety study
Primary outcome measure(s)
Number of Participants Who Reach Developmental Milestones — Up to 5 years Assessed via the developmental milestone checklist, formed of 10 yes/no questions. The developmental milestones are: head control, sitting with support, sitting without support, sitting without support for 30 seconds, hands-and-knees crawling, pulls to stand, standing with assistance, walking with assistance, standing alone and walking alone.
Change From Baseline in Hammersmith Functional Motor Scale - Expanded (HFMSE) Score — Up to 5 years The HFMSE was devised for use in children with SMA to give objective information on motor ability and clinical progression. The HFMSE is formed of 33 assessments rated from 0 (unable to perform functional task) to 2 (able to perform functional task unassisted). Higher scores on the total scale of 0-66 indicates higher levels of motor ability.
Number of Participants Who Experience a Clinically Significant Change From Baseline in Pulmonary Assessment Results and Require Ventilatory Support — Up to 15 years Participants will receive pulmonary assessments by a pulmonologist or appropriate clinician. Respiratory device data will be reviewed for participants receiving non-invasive ventilatory support.
Number of Participants Who Experience Swallowing Dysfunction and Require Nutritional Support — Up to 5 years Assessed via the swallowing function questionnaire, formed of 4 yes/ no questions and 1 body weight question.
Number of Participants Who Experience a Clinically Significant Change from Baseline in Physical Examination Findings — Up to 5 years The physical examination includes review of the following systems: head, ears, eyes, nose and throat, lungs/thorax, cardiovascular, abdomen, musculoskeletal, neurologic, dermatologic, lymphatic, and genitourinary. In addition, visual inspection of the spine, back, shoulders, and hips looking for spinal curvature and asymmetry will be carried out. Joints will be assessed for loss of mobility and contractures.
Number of Participants Who Experience a Clinically Significant Change From Baseline in Vital Signs Measurements — Up to 5 years Vital sign measurements will include blood pressure, respiratory rate, pulse, axillary temperature, and pulse oximetry.
Change From Baseline in Height Measurements — Up to 5 years
Change From Baseline in Weight Measurements — Up to 5 years
Number of Participants Who Experience a Clinically Significant Change From Baseline in Clinical Laboratory Assessments — Up to 5 years Blood samples will be collected for hematology (including complete blood cell count) and chemistry.
Number of Participants Who Experience a Clinically Significant Change From Baseline in Cardiac Assessments — Up to 5 years Cardiac assessments will include a 12-lead electrocardiogram, transthoracic echocardiogram and Troponin-I.
Number of Participants Who Experience a Clinically Significant Change From Baseline in Observational Phase Questionnaire Results — Year 6 to Year 15 The observational phase questionnaire includes 7 yes/no questions. Observation categories include: adverse events, hospitalizations, concomitant medications, ventilatory support and feeding support.
Number of Participants Who Experience at Least One Serious Adverse Event (SAE) — Up to 15 years An SAE is defined as any adverse event (appearance of \[or worsening of any pre existing\]) undesirable sign(s), symptom(s), or medical conditions(s) which meets any one of the following criteria:
* Fatal
* Life-threatening
* Results in persistent or significant disability/incapacity
* Constitutes a congenital abnormality or birth defect
* Requires in-patient hospitalization or prolongation of existing hospitalization
* Is medically significant e.g. defined as an event that jeopardizes the participant or may require medical or surgical intervention to prevent one of the outcomes listed above
Number of Participants Who Experience at Least One Adverse Event of Special Interest (AESI) — Up to 15 years An AESI is defined as an AE occurring during any study phase that fulfills one of the following criteria:
* Hepatotoxicity
* Thrombotic microangiopathy
* Cardiac adverse events
* Dorsal root ganglia toxicity
* New malignancies
* New incidence of a neurologic disorder
* New incidence of an autoimmune disorder
* New incidence of hematologic disorder
Change From Baseline in Bayley Scales of Infant and Toddler Development — Up to 42 months, 15 days of age Third Edition (Bayley-III) to be performed in all patients up to 42 months, 15 days of age.
Change From Baseline in Revised Upper Limb Module (RULM) Score — Up to 5 years RULM score is based on a scale from 0 to 37 where lower scores reflect poorer upper limb functional ability.
Change From Baseline in Cogstate Computerized Cognitive Battery Performed in Age 48 Months and Older — Up to 5 years The Cogstate Computerized Cognitive Battery consists of the Identification Test (scored 0 (best) to 1.5708 (worst)), the International Shopping List Test (scored 0 (worst) to 999 (best)), the International Shopping List Test-Delayed Recall (scored 0 (worst) to 999 (best)), the One Card Learning Test (scored 0 (worst) to 1.5708 (best)), and the One Back Test (scored 0 (worst) to 1.5708 (best)).
Change From Baseline in Clinical Evaluation of Language Fundamentals Fifth Edition (CELF-5) Performed in All Participants 5 to 21 Years of Age — Up to 5 years The CELF-5 Following Directions and Sentence Repetition subtests use scoring that varies based on age, but will be administered to participants 5-21 years of age. The Following Directions subtest will be scored from 0-33 with higher score being more advanced and the Recalling Sentences subtest will be scored from 0-78 with higher score being more advanced.
Change From Baseline in Assessment of Caregiver Experience With Neuromuscular Disease (ACEND) — Up to 5 years ACEND score is based on a scale from 1 to 41 where higher scores represent a better caregiver experience
Number of Participants With Concomitant Medications Overall and by Type of Medications — Up to 5 years
Number of Participants With Other SMA Therapies Overall and by Type of Medications — Year 6 to Year 15
Trial sites (31)
Facility
City
Region
Status
Stanford University Medical Center
Palo Alto
California
Children's Hospital Colorado
Aurora
Colorado
Ann Robert H. Lurie Children's Hospital of Chicago
Chicago
Illinois
John Hopkins Hospital - David M. Rubenstein Child Health Building
Baltimore
Maryland
Massachusetts General Hospital
Boston
Massachusetts
Boston Children's Hospital
Boston
Massachusetts
Spectrum Health Hospitals Helen DeVos Children's Hospital
Grand Rapids
Michigan
Washington Unviersity School of Medicine in Saint Louis
St Louis
Missouri
Columbia University Medical Center
New York
New York
Duke University
Durham
North Carolina
Nationwide Children's Hospital
Columbus
Ohio
Children's Hospital of Philadelphia
Philadelphia
Pennsylvania
Clinic for Special Children
Strasburg
Pennsylvania
Children's Health Specialty Center Dallas Campus
Dallas
Texas
University of Utah Health
Salt Lake City
Utah
Children's Hospital of The King's Daughters
Norfolk
Virginia
Virginia Commonwealth University
Richmond
Virginia
University of Wisconsin, Madison
Madison
Wisconsin
Sydney Children's Hospital
Randwick
New South Wales
Universitair Ziekenhuis Gent
Ghent
Belgium
Centre de Référence des Maladies Neuromusculaires
Liège
Belgium
Children's Hospital of Eastern Ontario Research Institute
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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