NCT07903376Not yet recruitingEarly phase 1
SPX-01 Gene Therapy in Pediatric Patients With Spinal Muscular Atrophy Type 1 (RISE)
A First-in-Human, Open-Label, Single-Center Study to Evaluate the Safety, and Tolerability of SPX-01 Gene Therapy in Pediatric Patients With Spinal Muscular Atrophy Type 1 (RISE)
Source: ClinicalTrials.gov · Last updated 29 Oct 2026
Brief summary (registry, in English)
The goal of this clinical trial is to learn about the safety, and tolerability of giving an experimental gene therapy called SPX-01 to an infant with spinal muscular atrophy (SMA) type 1. SMA type 1 is a rare inherited disease that causes severe muscle weakness and can affect breathing, swallowing, and movement. SPX-01 is designed to deliver a working copy of a gene called SMN1, which does not function properly in children with SMA. The main questions this study aims to answer are: * What side effects or medical problems occur after SPX-01 is given? * What changes in the infant's movement, breathing, and overall health are observed during follow-up? One infant aged 6 months or younger with genetically confirmed SMA type 1 will take part in this study. The infant will: * Receive a single dose of SPX-01 through a vein over approximately one hour. * Attend follow-up visits over 12 months, including medical examinations, blood tests, and assessments of movement and breathing.
- Status (registry)
- Not yet recruiting
- Phase (registry)
- Early phase 1
- Study type
- Interventional
- Enrollment
- 1 (estimated)
- First submitted
- 17 Oct 2026
- Start date
- Jan 2027
- Primary completion date
- Jan 2028
- Lead sponsor
- Exir Gene Pharmed
- Diseases
- Spinal muscular atrophy
- NCT number
- NCT07903376
What you commit to
- Study type: Interventional · Early phase 1
- Planned participants: 1
- From Jan 2027 to the primary completion date, Jan 2028
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- Significant concomitant medical condition considered by the principal investigator to create unacceptable additional risk.
- Current or recent immunosuppressive treatment within the preceding 3 months, except for protocol-specified prophylactic corticosteroids.
- Anti-AAV9 antibody titer greater than 1:50.
Other illness
- Active viral infection, HIV infection, or positive hepatitis B or hepatitis C serology.
Lab values
- Total bilirubin ≥3 mg/dL or serum creatinine ≥1.8 mg/dL.
- Hemoglobin below 8 g/dL or above 18 g/dL, or white blood cell count above 20,000 cells/mm³.
Other
- Invasive ventilatory support or oxygen saturation (SpO2) below 95% at screening. Noninvasive ventilation (BiPAP) for fewer than 16 hours per day may be permitted at the discretion of the treating team.
- Gamma-glutamyl transferase (GGT) greater than 3 times the upper limit of normal.
- Recent participation in another clinical trial considered to create additional risk.
- Aspiration identified during swallowing assessment when alternative feeding methods are not accepted.
- Presence of the SMN2 c.859G\>C variant associated with a potentially milder phenotype.
Who the study is looking for
- Age 6 months or younger on the day of SPX-01 administration.
- Genetically confirmed spinal muscular atrophy (SMA) type 1 due to biallelic deletion or pathogenic variants of SMN1, with one or two copies of SMN2.
- Onset of symptoms from birth through 6 months of age.
- Clinical findings consistent with SMA type 1, including hypotonia, delayed motor development, and poor head control.
- Written informed consent from the parent(s) or legally authorized guardian.
- Ability to attend scheduled study visits and comply with follow-up procedures.
- Final eligibility confirmation by the principal investigator and designated eligibility committee before infusion.
Age in the registry: 1 day to 6 months · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Children's Medical Center Coordinator of this site? Confirm its status | Tehran | Iran | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.