Investigating a new gene therapy for children with spinal muscular atrophy

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This multicenter, open-label study aims to evaluate the safety and efficacy of a gene therapy called ANB-004 in children diagnosed with spinal muscular atrophy (SMA). The trial consists of two stages: the first stage involves a dose-escalation design to identify a potentially therapeutic dose, while the second stage assesses the efficacy and safety of that selected dose. Participants will receive a single intravenous infusion of ANB-004 and will be monitored for any adverse events related to the treatment. The study focuses on children under 240 days old with specific genetic criteria for SMA.

Why it matters

Who can join: the full rules

Inclusion Criteria:

1. Informed consent form for participation in the study signed by the subject's legal representative;
2. Subjects of either sex under the age of 240 days at the time of signing the Information Sheet for the Legal Representative of the Clinical Study Subject with Informed Consent Form;
3. A diagnosis of 5q-SMA (homozygous deletion of exon 7 of the SMN1 gene or heterozygous deletion of exon 7 + confirmed point mutation of the SMN1 gene) and 2 or 3 copies of the SMN2 gene established based on molecular genetic testing;
4. Subjects with 2 copies of the SMN2 gene can be included in the study both at the presymptomatic stage of the disease and in the presence of SMA symptoms. If symptoms are present, the age of onset of the disease should be up to 180 days from birth.
5. Subjects with 3 copies of the SMN2 gene can be included in the study if they have symptoms of SMA type 1 and the disease began before the age of 180 days.
6. The ability of the subject's legal representative, in the Investigator's opinion, to perceive information and follow the Protocol procedures

Exclusion Criteria:

1. A diagnosis of HIV infection, hepatitis B, hepatitis C, congenital syphilis in the study subject, as well as a documented diagnosis of HIV infection in the study subject's mother. Note: documented hepatitis B and/or hepatitis C and/or syphilis in the mother of a study subject is not an exclusion criterion in this clinical study, provided that standard breastfeeding rules are followed or the subject is not breastfed due to the low risk of transmission of hepatitis B and C viruses and Treponema pallidum from mother to child with breast milk;
2. Unwillingness of the legal representative to use alternative feeding methods (nasogastric tube, gastrostomy) in case of swallowing disorders and a risk of aspiration;
3. Anti-AAV9 antibody titer \>1:50 determined by ELISA. Note: if a subject's screening anti-AAV9 antibody titer is \>1:50, the anti-AAV9 antibody titer may be determined again. Subjects with anti-AAV9 antibody titers ≤1:50 in the second test may be included in the study;
4. Need for respiratory support for ≥16 hours per day or tracheostomy ;
5. Treatment with nusinersen, risdiplam, branaplam, onasemnogene abeparvovec or other antisense oligonucleotides/selective SMN2 splicing modifiers or gene therapy drugs for SMN1 transduction or other AAV-based gene therapy drugs regardless of serotype used previously (from birth) or planned for the main study period, i.e., within 12 months after the administration of the investigational product.
6. A need to use any medications for the treatment of myopathy or neuropathy, drugs for the treatment of diabetes, ongoing immunosuppressive therapy, or the need for immunosuppressive therapy after the start of the study (for example, glucocorticoids (except for premedication and post-medication), cyclosporine, tacrolimus, methotrexate, cyclophosphamide, intravenous immunoglobulin, rituximab, etc.);
7. Subjects with the following laboratory test results at screening:

   * increased activity of transaminases (ALT, AST) or GGT \>2×ULN;
   * total bilirubin level ≥34 µmol/L;
   * creatinine level ≥160 µmol/L;
   * hemoglobin \<80 g/L and \>180 g/L;
   * WBC count \>20x109/L;
   * Troponin I level \> ULN.
8. Any concomitant diseases that, in the Investigator's opinion, may affect the safety of ANB-004 in the subject or have a significant impact on the assessment of the outcomes of SMA therapy;
9. A diagnosis of acute or chronic hepatic failure at screening;
10. A known allergy or intolerance to any components of the investigational product or pre- and post-medication drug (glucocorticoids);
11. Simultaneous participation of the subject in other clinical studies or previous participation in another clinical study using an experimental therapy.

Where it's running

• 1. State Institution Republican Scientific and Practical Center "Mother and Child"
  Minsk, Belarus Recruiting
• Federal State Autonomous Educational Institution of Higher Education "N.I. Pirogov Russian National Research Medical University", Ministry of Health of the Russian Federation
  Moscow, Russia Recruiting
• Federal State Autonomous Educational Institution of Higher Education "N.I. Pirogov Russian National Research Medical University", Ministry of Health of the Russian Federation
  Moscow, Russia Recruiting
• Federal State Autonomous Institution "National Medical Research Center for Children's Health", Ministry of Health of the Russian Federation
  Moscow, Russia Recruiting
• Federal State Budgetary Educational Institution of Higher Education "St. Petersburg State Pediatric Medical University", Ministry of Health of the Russian Federation
  Saint Petersburg, Russia Recruiting
• Federal State Budgetary Institution "V. A. Almazov National Medical Research Center" of the Ministry of Health of the Russian Federation
  Saint Petersburg, Russia Recruiting

Study contacts

• Study coordinator: Maria Morozova, MD, PhD
• Email: morozovama@biocad.ru
• Phone: +7 (985) 910 28 13

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Newborn SMA Screening Service Evaluation

  This project tests newborn SMA screening to see if it works well and is acceptable to families in the UK.

  Recruiting at 2 sites University of Oxford · London and 2 other locations · NCT07888868

• Biomarker search in SMA using advanced multi-omics

  Researchers are trying to see if new biomarkers can help diagnose and monitor spinal muscular atrophy in patients and newborns.

  Recruiting at 3 sites Istituto Giannina Gaslini · Genova and 2 other locations · NCT07883655

• Effects of Different Stiffness Settings During Robotic Isokinetic Training in Children With SMA

  This study tests whether a portable knee-training robot with a compliant vs. rigid stiffness setting improves knee strength in children with spinal muscular atrophy, using each child’s other leg as a comparison.

  Recruiting Peking University Third Hospital · Beijing · NCT07822711

• Wearable monitoring of motor development in babies and young children with spinal muscular atrophy detected at birth

  This project will try wearing small motion sensors at home to see if they can track how babies and young children diagnosed with spinal muscular atrophy at birth move and develop, compared with healthy children.

  Recruiting University of Oxford · Oxford · NCT07543003

• HABIT-ILE plus Functional Strength Training for Children with SMA

  This study will try an intensive HABIT-ILE program combined with functional strength training for children aged 5–17 with SMA who are on stable disease-modifying therapy to see if it improves motor skills.

  Recruiting Teachers College, Columbia University · New York, New York · NCT07488338

• Long-read genetic analysis for Spinal Muscular Atrophy (LOREASI)

  This project tries a long-read DNA technique on adults with known SMN1 copy-number patterns to find hidden '2+0' carrier genotypes that standard tests miss.

  Recruiting University Hospital, Rouen · Rouen · NCT07332702

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.