Active Trial

[Genetic Counselor]

Active Trial

[Genetic Counselor]

Sponsor: Novartis Gene Therapies (global lead)
Trial management in India under Murugananthan K.
CTRI ID: CTRI/2021/11/037956, also registered as COAV101B12301 / “STEER”

What it is: A one-time intrathecal (IT), i.e., injected directly into the cerebrospinal fluid via lumbar puncture, dose of OAV101 (the same active molecule marketed intravenously as Zolgensma/onasemnogene abeparvovec). OAV101 is a self-complementary AAV9 vector carrying a functional copy of the human SMN1 gene under a constitutive promoter. AAV9 was chosen because it crosses into the central nervous system efficiently; delivering it intrathecally rather than intravenously targets the spinal anterior horn neurons directly at a much lower total vector dose than a systemic infusion would require.

Why intrathecal instead of the standard IV route: IV AAV9 gene therapy is used in infants under roughly 2 years and under a certain body weight. In older, heavier children, IV dosing means a proportionally much larger total vector load, which raises the risk of hepatotoxicity (transaminitis, and rare but serious acute liver failure) and complement-mediated immune reactions such as thrombotic microangiopathy. Intrathecal administration was developed specifically to make gene therapy feasible for the non-ambulatory, older SMA Type 2 population who have already missed the window for infant IV dosing.

Trial design: 52-week, randomized, double-blind, sham-controlled, multi-center study. The sham-control arm receives a mock lumbar puncture procedure without vector, allowing outcomes to be compared against no active treatment while keeping both families and assessors blinded to allocation.

Eligibility: Non-ambulatory, sitting-but-not-walking patients aged 2 to under 18 years with genetically confirmed Type 2 SMA (SMN1 deletion/mutation plus SMN2 copy number on file). Patients who have already received Risdiplam, Nusinersen, or a prior AAV gene therapy are typically excluded or require a washout period per the standard OAV101/STEER protocol design used globally — confirm current exclusion criteria directly with a site before assuming eligibility.

Primary endpoint: Change in Hammersmith Functional Motor Scale-Expanded (HFMSE) score from baseline to Week 52 – a 33-item scale assessing gross motor function such as rolling, sitting, and reaching, scored 0–66.

Confirmed India sites and investigators:
• AIIMS, New Delhi — Dr. Sheffali Gulati
• Sir Ganga Ram Hospital, New Delhi — Dr. Ratna Dua Puri
• Rainbow Children’s Hospital, Secunderabad — Dr. Ramesh Konanki
• Aster MIMS, Kozhikode — Dr. Smilu Mohanlal
• Aster RV Hospital, Bengaluru — Dr. Ann Agnes Mathew
• P.D. Hinduja Hospital, Mumbai — Dr. Neelu Desai
• Peerless Hospitex Hospital, Kolkata — Dr. Sanjukta De
This is currently the main SMA gene-therapy trial in India with a verifiable CTRI number and named sites. Treat any other “SMA gene therapy trial” claim in India with caution until it produces a CTRI ID you can independently look up.

References:
• CTRI record — https://ctri.nic.in/Clinicaltrials/showallp.php?mid1=60575&EncHid=&userName=A+randomized,+sham-controlled

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