Long-term Follow-up of Patients With Spinal Muscular Atrophy Treated With OAV101 in Clinical Trials

Recruitment Status
RECRUITING
(See Contacts and Locations)Verified December 2025 by Novartis Pharmaceuticals
Sponsor
Novartis Pharmaceuticals
Information Provided by (Responsible Party)
Novartis Pharmaceuticals
Clinicaltrials.gov Identifier
NCT05335876
Other Study ID Numbers:
COAV101A12308
First Submitted
April 11, 2022
First Posted
April 19, 2022
Last Update Posted
January 19, 2026
Last Verified
December 2025

ClinicalTrials.gov processed this data on January 2026Link to the current ClinicalTrials.gov record .

History of Changes

Study Details

Study Description

The study is comprised of a Baseline Visit and 2 Follow-up Periods. For Follow-up Periods 1 and 2, which includes Baseline through Year 5 visits, assessments will be performed at the Investigational site. For the first 2 years (Follow-up Period 1), visits will occur every 6 months. For Years 3 to 5 (Follow-up Period 2) follow-up visits will be conducted annually. All patients will enter the study at the baseline visit and continue for 5 years.

Condition or DiseaseIntervention/Treatment
Spinal Muscular Atrophy (SMA)
Biological: onasemnogene abeparvovec

Study Design

Study TypeInterventional
Actual Enrollment175 participants
Design AllocationN/A
Interventional ModelSingle Group Assignment
MaskingNone (Open Label)
Primary PurposeTreatment
Official TitleLong-term Follow-up of Patients With Spinal Muscular Atrophy Treated With OAV101 IT or OAV101 IV in Clinical Trials
Study Start DateDecember 18, 2022
Actual Primary Completion Date4yrs 4mos from now
Actual Study Completion Date4yrs 9mos from now

Groups and Cohorts

Group/CohortIntervention/Treatment
Intravenous (IV) & Intrathecal (IT) Onasemnogene Abeparvovec
Patients who received OAV101 IT or OAV101 IV in clinical trials (COAV101A12306, COAV101B12301 and COAV101B12302)
Biological: onasemnogene abeparvovec
Onasemnogene abeparvovec is a non-replicating recombinant adeno-associated virus serotype 9 containing the human survival motor neuron gene under the control of the ytomegalovirus enhancer/chicken β-actin-hybrid promoter. Onasemnogene abeparvovec is administered as a one-time intravenous (IV) infusion or intrathecal (IT) injection. Dosage determined by participant weight.

Outcome Measures

Primary Outcome Measures
  1. Number of participants with treatment-emergent serious adverse events (SAEs)
    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 anomaly/birth defect, fetal death or congenital abnormality or birth defect * requires in-patient hospitalization or prolongation of existing hospitalization, unless hospitalization is for routine treatment or monitoring of the studied indication, not associated with any deterioration in condition * 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
  2. Number of participants with treatment emergent Adverse Events of Special Interest (AESI)
    The following are important identified and important potential risks (AESI) associated with OAV101: Hepatotoxicity, Transient Thrombocytopenia, Cardiac adverse events, Sensory abnormalities suggestive of ganglionopathy, and Thrombotic microangiopathy. These will be assessed by the investigator.
Secondary Outcome Measures
  1. The number of participants demonstrating each developmental milestone according to the Developmental Milestone Checklist
    The Developmental Milestone Checklist is a sponsor created list of items using relevant definitions obtained from World Health Organization Multicentre Growth Reference Study (WHO-MGRS). These will be assessed via the milestone checklist, formed of 6 yes/no questions. The developmental milestones are: sitting with support, hands-and-knees crawling, standing with assistance, walking with assistance, standing alone and walking alone. A yes response indicates that the patient reached a particular development milestone.
  2. The number of participants demonstrating maintenance of each developmental milestone according to the Developmental Milestone Checklist
    The Developmental Milestone Checklist is a sponsor created list of items using relevant definitions obtained from World Health Organization Multicentre Growth Reference Study (WHO-MGRS). These will be assessed via the milestone checklist, formed of 6 yes/no questions. The developmental milestones are: sitting with support, hands-and-knees crawling, standing with assistance, walking with assistance, standing alone and walking alone. A yes response indicates that the patient reached a particular development milestone.
  3. Change from Baseline in the Hammersmith Functional Motor Scale - Expanded (HFMSE) total score
    The HFMSE is a validated SMA specific assessment devised for use in children with SMA to give objective information on motor ability and clinical progression. The HFMSE contains 33 items rated from 0 (unable to perform) to 2 (performs without modification/adaptation/compensation). Total scores range from 0-66. Higher scores indicate higher levels of motor ability.
  4. Change from Baseline in the Revised Upper Limb Module (RULM) total score
    The RULM is a validated SMA specific assessment of motor performance in the upper limbs from childhood through adulthood in ambulatory and non-ambulatory individuals with SMA. The scale consists of 19 scorable items: 18 items scored on 0 (unable) to 2 (full achievement) scale, and one item that is scored from 0 (unable) to 1 (able). Total scores range from 0-37 points. Higher scores reflect higher level of motor ability.
  5. Systolic and diastolic blood pressure (mmHg)
  6. Number of patients with potentialy clinically significant vital sign findings - Respiratory Rate (breaths/min)
  7. Number of patients with potentialy clinically significant vital sign findings -Pulse Rate (beats/min)
  8. Number of patients with potentialy clinically significant vital sign findings -Temperature (Degrees Celsius)
  9. Number of patients with potentialy clinically significant vital sign findings -Oxygen saturation level (%).
    Oxygen saturation is the fraction of oxygen-saturated hemoglobin relative to total hemoglobin (unsaturated+saturated) in the blood and then multiplied by 100.

Eligibility Criteria

Ages Eligible for Study(Child, Adult, Older Adult)
Sexes Eligible for StudyAll
Accepts Healthy VolunteersNo
Inclusion Criteria
1. Participated in an OAV101 clinical trial. 2. Written informed consent must be obtained before any assessment is performed. 3. Patient/Parent/legal guardian willing and able to comply with study procedures.
Exclusion Criteria
There are no exclusion criteria for this study.

Contacts and Locations

Sponsors and CollaboratorsNovartis Pharmaceuticals
Locations
Child Hosp Of The Kings Daughters | Norfolk Virginia, United States, 23507Novartis Investigative Site | Sydney New South Wales, Australia, 2031Novartis Investigative Site | Leuven , Belgium, 3000Novartis Investigative Site | Curitiba Paraná, Brazil, 81520-060Novartis Investigative Site | São Paulo São Paulo, Brazil, 05403 000Novartis Investigative Site | Montreal Quebec, Canada, H4A 3J1Novartis Investigative Site | Chongqing Chongqing Municipality, China, 400010Novartis Investigative Site | Guangzhou Guangdong, China, 510623Novartis Investigative Site | Chengdu Sichuan, China, 610041Novartis Investigative Site | Beijing , China, 100034Novartis Investigative Site | Beijing , China, 100069Novartis Investigative Site | Beijing , China, 100730Novartis Investigative Site | Copenhagen , Denmark, 2100 ONovartis Investigative Site | Bron , France, 69677Novartis Investigative Site | Garches , France, 92380Novartis Investigative Site | Strasbourg , France, 67000Novartis Investigative Site | Toulouse , France, 31059Novartis Investigative Site | Roma RM, Italy, 00168Novartis Investigative Site | Kurume Fukuoka, Japan, 830-0011Novartis Investigative Site | Shinjuku Ku Tokyo, Japan, 1628666Novartis Investigative Site | Kuala Lumpur , Malaysia, 50300Novartis Investigative Site | Kuala Lumpur , Malaysia, 59100Novartis Investigative Site | Utrecht , Netherlands, 3584 CXNovartis Investigative Site | Riyadh , Saudi Arabia, 11211Novartis Investigative Site | Singapore , Singapore, 119074Novartis Investigative Site | Barcelona , Spain, 08035Novartis Investigative Site | Kaohsiung City , Taiwan, 80756Novartis Investigative Site | Taipei , Taiwan, 10002Novartis Investigative Site | Bangkok , Thailand, 10700Novartis Investigative Site | London , United Kingdom, WC1N 3JHNovartis Investigative Site | Newcastle upon Tyne , United Kingdom, NE1 4LPNovartis Investigative Site | Hanoi , Vietnam, 100000