AAV9-ASAH1 intracisterna magna Gene Therapy (GNT0009) in Patients with Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA - PME)
Key facts
- Where
- Le Kremlin Bicetre Cedex és Paris, FranciaországSee the 2 sites
- Phase
- 1/2. fázis
Where in Franciaország
- Bicetre HospitalLe Kremlin Bicetre Cedex, FranciaországToborzás még nem indult
- Trousseau HospitalParis, FranciaországToborzás még nem indult
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Genethon
- Trial code
- EU 2026-527323-10-00
- Record updated
- 2026. november 9.
- Original description
To evaluate the safety and tolerability of a single ICM administration of GNT0009 in patients with SMA-PMERead full original descriptionShow less
Phase 1/2 Open-Label Trial to Evaluate the Safety, Tolerability, Biological Activity, and Clinical Efficacy of intracisterna Magna administration of an AAV9 Vector Encoding Human ASAH1 (GNT0009) in Patients with Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME)
To evaluate the safety and tolerability of a single ICM administration of GNT0009 in patients with SMA-PME
Inclusion: Male or female participants; Documented genetically SMA-PME diagnosis; Up-to-date immunization status according to the French national vaccination schedule (2025), including recommended vaccines for age and/or risk groups, notably: hepatitis B, measles-mumps-rubella (MMR), varicella*, hepatitis A (in at-risk populations), Neisseria meningitidis (ACWY + B), Streptococcus pneumoniae, seasonal influenza, SARS-CoV-2, and respiratory syncytial virus (RSV) where indicated; Ability of the participant and/or legal representatives to confirm the adherence to the clinical trial visit schedule and all protocol requirements; Effective contraception.
Exclusion: Concomitant use of strong CYP3A4 and/or P-glycoprotein (P-gp) inducers or inhibitors; Presence of any permanent or non-MRI–compatible implants or devices (e.g., metal braces) that preclude safe MRI assessment; Diagnosis of Farber disease; Positive serology consistent with human immunodeficiency virus (HIV) infection or evidence of active hepatitis B or hepatitis C infection; Severely impaired pulmonary function (e.g., FVC <30% predicted) and/or respiratory insufficiency requiring either of the following: (a) non-invasive ventilation for >16 hours per day, or (b) invasive mechanical ventilation via tracheostomy; Coagulation disorders or clinically significant abnormalities in coagulation parameters that increase the risk of bleeding associated with ICM administration; Presence of a severe concomitant medical condition or clinically significant abnormal laboratory / imaging findings that, in the opinion of the investigator, may interfere with the course of SMA-PME or place the participant at increased risk of severe complications; Severe intellectual disability (e.g., intellectual quotient [IQ] < 50); Gross Motor Function Classification in Metachromatic Leukodystrophy (GMFC-MLD) score of 6 (loss of any locomotion as well as loss of any head and trunk control); Hepatic dysfunction Grade ≥3 as defined by CTCAE criteria; History or evidence of increased intracranial pressure, hydrocephalus, or need for CSF diversion.