Spinal Muscular Atrophy (SMA)Early Phase 1NCT07903376
SPX-01 Gene Therapy in Pediatric Patients With Spinal Muscular Atrophy Type 1 (RISE)
A Early Phase 1 study testing SPX-01 in people with Spinal Muscular Atrophy (SMA), run by Exir Gene Pharmed at 1 site in Iran.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 1 day to 6 months
- Conditions the study is for
- Spinal Muscular Atrophy (SMA)
- What is being tested?
- SPX-01
- Type of treatment
- Pill or oral medicine, Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1 participants
- Where
- 1 siteIran
- Study dates
- 1 Jan 2027to 1 Jan 2028
- Phase
- Early Phase 1
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 day to 6 months
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- 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.
Who cannot join
- Active viral infection, HIV infection, or positive hepatitis B or hepatitis C serology.
- 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.
- 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.
- Gamma-glutamyl transferase (GGT) greater than 3 times the upper limit of normal.
- Total bilirubin ≥3 mg/dL or serum creatinine ≥1.8 mg/dL.
Show all 11Show fewer
- Hemoglobin below 8 g/dL or above 18 g/dL, or white blood cell count above 20,000 cells/mm³.
- Anti-AAV9 antibody titer greater than 1:50.
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Iran1 site
Children's Medical Center
Tehran, Tehran Province, 1419733151
Maryam Bemanalizadeh, MD, +982161479999, maryam.bmn91@gmail.com
Vahid Mansouri, MD, +982166930024, mansoury.vahid@gmail.com
About this study
Official title: 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)
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.
Read more
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.
Read the detailed description
Spinal muscular atrophy (SMA) type 1 is a severe, progressive, inherited neuromuscular disorder caused by biallelic loss of SMN1 gene function. Reduced survival motor neuron (SMN) protein expression leads to progressive motor neuron degeneration, muscle weakness, and respiratory and feeding complications.
SPX-01 is an investigational gene therapy based on a self-complementary adeno-associated virus serotype 9 (scAAV9) vector carrying a functional, codon-optimized human SMN1 transgene.
RISE is a prospective, first-in-human, open-label, single-center, single-arm, single-participant study designed primarily to characterize the safety and tolerability of SPX-01.
One infant aged 6 months or younger with genetically confirmed SMA type 1 and one or two SMN2 gene copies will receive a single intravenous infusion of SPX-01 at a target dose of 1.1 × 10^14 vector genomes/kg body weight.
Prophylactic oral prednisolone at 1 mg/kg/day will be started approximately 24 hours before infusion and maintained according to the protocol-defined initial treatment period. After 30 days, clinical findings, liver enzymes, bilirubin, and coagulation parameters will be reviewed to determine eligibility for gradual corticosteroid tapering.
Safety monitoring will include the occurrence, seriousness, severity, and relationship to treatment of adverse events and serious adverse events, including hepatic injury, thrombocytopenia, thrombotic microangiopathy, infusion reactions, cardiac abnormalities, and renal and respiratory complications. Adverse event severity will be evaluated using the protocol-specified Division of AIDS (DAIDS) grading criteria, with age-appropriate clinical and laboratory reference ranges.
Changes in CHOP-INTEND scores, motor milestones, compound muscle action potential, survival, respiratory function, and feeding status will be documented as exploratory observations. These observations will not be used to establish treatment efficacy.
- Conditions
- Spinal Muscular Atrophy (SMA)
- Being tested
- SPX-01
- Keywords
- Spinal muscular atrophy, SMA type 1, Spinal Muscular Atrophy Type 1, SPX-01, Gene therapy, AAV9, SMN1, Pediatric gene therapy, Gene replacement therapy, Gene Transfer, Safety, Tolerability, Feasibility, Efficacy
- Medical subject headings
- Muscular Atrophy, Spinal, Spinal Muscular Atrophies of Childhood
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
SPX-01Genetic
SPX-01 is an investigational self-complementary AAV9 gene therapy vector containing a functional, codon-optimized human SMN1 transgene under the control of the CAG promoter. A single intravenous dose of 1.1 × 10^14 vector genomes/kg body weight.
Oral prednisolone at 1 mg/kg/day will be initiated approximately 24 hours before infusion and continued for an initial 30-day treatment period. Subsequent tapering over at least 28 days will be performed only when protocol-specified clinical and laboratory criteria are met. Corticosteroid therapy may be extended in the presence of persistent liver abnormalities.
| Study group | Role | What they receive |
|---|---|---|
| Experimental: SPX-01 | Experimental | One infant with genetically confirmed spinal muscular atrophy type 1 will receive a single intravenous administration of SPX-01 at a target dose of 1.1 × 10^14 vector genomes/kg. Receives: Genetic: SPX-01 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Occurrence and Severity of Adverse Events and Serious Adverse Events
Number, nature, severity, seriousness, timing, outcome, and assessed relationship to SPX-01 of adverse events, serious adverse events, and dose-limiting toxicities using DAIDS grading criteria
Measured: Through Month 12
Change in Alanine Aminotransferase (ALT) Levels From Baseline
Change in serum ALT levels from baseline to each scheduled post-treatment assessment. ALT concentrations will be measured in U/L, and absolute changes from baseline will be summarized at each assessment time point.
Measured: Baseline through Month 12
Change in Aspartate Aminotransferase (AST) Levels From Baseline
Change in serum AST levels from baseline to each scheduled post-treatment assessment. AST concentrations will be measured in U/L, and absolute changes from baseline will be summarized at each assessment time point.
Measured: Baseline through Month 12
Change in Platelet Count From Baseline
Change in platelet count from baseline to each scheduled post-treatment assessment. Platelet counts will be measured in ×10⁹/L, and absolute changes from baseline will be summarized at each assessment time point.
Measured: Baseline through Month 12
Change in Serum Creatinine Levels From Baseline
Change in serum creatinine levels from baseline to each scheduled post-treatment assessment as an indicator of renal function. Serum creatinine will be measured in mg/dL, and absolute changes from baseline will be summarized at each assessment time point.
Measured: Baseline through Month 12
Change in Cardiac Troponin I Levels From Baseline
Change in cardiac troponin I levels from baseline to each scheduled post-treatment assessment as a marker of myocardial injury. Troponin I levels will be measured in ng/L, and absolute changes from baseline will be summarized at each assessment time point.
Measured: Baseline through Month 12
Change in Lactate Dehydrogenase (LDH) Levels From Baseline
Change in serum lactate dehydrogenase (LDH) levels from baseline to each scheduled post-treatment assessment as a marker of hemolysis and tissue injury. LDH levels will be measured in U/L, and absolute changes from baseline will be summarized at each assessment time point.
Measured: Baseline through Month 12
Change in Hemoglobin Levels From Baseline
Change in blood hemoglobin concentration from baseline to each scheduled post-treatment assessment as an indicator of hematologic safety and potential hemolysis. Hemoglobin levels will be measured in g/dL, and absolute changes from baseline will be summarized at each assessment time point.
Measured: Baseline through Month 12
Change in Total Bilirubin Levels From Baseline
Change in serum total bilirubin levels from baseline to each scheduled post-treatment assessment as an indicator of hepatic safety and potential hemolysis. Total bilirubin levels will be measured in mg/dL, and absolute changes from baseline will be summarized at each assessment time point.
Measured: Baseline through Month 12
Occurrence of Thrombotic Microangiopathy (TMA) Following SPX-01 Administration
Assessment of the occurrence of thrombotic microangiopathy (TMA) in the participant following SPX-01 administration, based on clinical and laboratory findings consistent with microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. Suspected TMA will undergo clinical evaluation and diagnostic confirmation according to the study protocol. TMA occurrence will be reported as present or absent (Yes/No) during the follow-up period.
Measured: Through Month 12
Secondary outcomes (11)
Overall Survival Status
Documentation of whether the participant remains alive during the 12-month follow-up period
Measured: Through Month 12
Event-Free Survival Status
Documentation of death or sustained respiratory support of at least 16 hours per day for at least 14 days, in the absence of an acute reversible illness.
Measured: Through Month 12
Change in Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) Total Score From Baseline
Change from baseline in the total score of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND), a 16-item scale designed to assess motor function in infants with neuromuscular disorders, including spinal muscular atrophy (SMA) Type 1. Each item is scored from 0 to 4, yielding a total score ranging from 0 to 64. Higher scores indicate better motor function, and a positive change from baseline indicates improvement. Individual changes from baseline will be assessed at Months 1, 3, 6, and 12.
Measured: Baseline; Months 1, 3, 6, and 12
Age at First Achievement of Full Head Control as Assessed by HINE-2
Age in months at first achievement of full head control, as assessed using the head control item of the Hammersmith Infant Neurological Examination, Section 2 (HINE-2). Achievement will be defined as a head control item score of 2, indicating the ability to maintain the head upright consistently. Age at achievement will be calculated based on the participant's date of birth and the date of the first assessment confirming milestone achievement.
Measured: Through Month 12
Age at First Achievement of Independent Rolling as Assessed by HINE-2
Age in months at first achievement of independent rolling, as assessed using the rolling item of the Hammersmith Infant Neurological Examination, Section 2 (HINE-2). Achievement will be defined as a rolling item score of 3, indicating the ability to roll independently from supine to prone. Age at achievement will be calculated based on the participant's date of birth and the date of the first assessment confirming milestone achievement.
Measured: Through Month 12
Age at First Achievement of Independent Sitting as Assessed by HINE-2
Age in months at first achievement of independent sitting, as assessed using the sitting item of the Hammersmith Infant Neurological Examination, Section 2 (HINE-2). Achievement will be defined as a sitting item score of at least 3, indicating the ability to maintain a stable sitting position without external support. Age at achievement will be calculated based on the participant's date of birth and the date of the first assessment confirming milestone achievement.
Measured: Through Month 12
Age at First Achievement of Standing With Support as Assessed by HINE-2
Age in months at first achievement of standing with support, as assessed using the standing item of the Hammersmith Infant Neurological Examination, Section 2 (HINE-2). Achievement will be defined as a standing item score of at least 2, indicating the ability to maintain a standing position with support. Age at achievement will be calculated based on the participant's date of birth and the date of the first assessment confirming milestone achievement.
Measured: Through Month 12
Change in Compound Muscle Action Potential (CMAP) Amplitude From Baseline
Change from baseline in compound muscle action potential (CMAP) amplitude, measured using motor nerve conduction studies (electrophysiological assessment). CMAP amplitude will be recorded in millivolts (mV) and reflects the summed electrical response of muscle fibers following peripheral motor nerve stimulation. Absolute changes in CMAP amplitude from baseline will be summarized at Months 1, 3, 6, and 12. A positive change from baseline indicates an increase in CMAP amplitude.
Measured: Baseline; Months 1, 3, 6, and 12
Ventilatory Support Status
Documentation of the participant's requirement for invasive or non-invasive ventilatory support during the 12-month follow-up period. Ventilatory support status will be assessed through clinical evaluations and medical records, including the type of respiratory support required and any changes from baseline.
Measured: Baseline through Month 12
Swallowing Function Status
Documentation of the participant's swallowing function during the 12-month follow-up period following SPX-01 administration. Swallowing status will be assessed through clinical evaluation and documented as the presence or absence of swallowing dysfunction, including clinical evidence of impaired swallowing or aspiration during feeding. Changes from baseline will be recorded at scheduled follow-up assessments.
Measured: Baseline through Month 12
Feeding Support Status
Documentation of the participant's feeding status during the 12-month follow-up period following SPX-01 administration. Feeding status will be assessed through clinical evaluations and medical records and categorized as oral feeding without tube support or feeding requiring nasogastric or gastrostomy tube support. Changes in feeding support requirements from baseline will be recorded at scheduled follow-up assessments.
Measured: Baseline through Month 12
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Oct 2026
- Study start1 Jan 2027 (estimated)
- Primary completion1 Jan 2028 (estimated)
- Study completion1 Jan 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Spinal Muscular Atrophy (SMA)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Early Phase 1
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- This is a prospective, open-label, single-center, single-arm study. One eligible infant will receive a single intravenous infusion of SPX-01. No randomization, blinding, or concurrent control group will be used. Safety, tolerability, feasibility, and exploratory clinical observations will be assessed longitudinally over 12 months.
- Masking
- None (open label)
- Enrolment
- 1 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Exir Gene Pharmed
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Principal investigator, Maryam Bemanalizadeh, Exir Gene Pharmed
- Investigators
- Mahmoudreza Ashrafi, MD, Principal investigator, Tehran University of Medical SciencesMaryam Bemanalizadeh, MD, Study chair, Exir Gene PharmedVahid Mansouri, MD, Study chair, Exir Gene Pharmed
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07903376
- Sponsor's protocol ID
- SPX01-P1-001
- Status last verified
- Oct 2026
- First submitted
- 17 Oct 2026
- Last updated
- 29 Oct 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Mansouri V, Bemanalizadeh M, Ahmadbeigi N, Shakeri R, Saffar H. Long-Term Safety and Efficacy of AAV9 Vectors Expressing Human SMN1 Gene: A Preclinical Study. Basic Clin Pharmacol Toxicol. 2025 Jul;137(1):e70064. doi: 10.1111/bcpt.70064.
PubMed 40522061
Study at a glance
From the registry record, last updated by the sponsor on 29 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- 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)
- ClinicalTrials.gov ID
- NCT07903376
- Acronym / sponsor ID
- SPX01-P1-001
- Conditions
- Spinal Muscular Atrophy (SMA)
- Keywords
- Spinal muscular atrophy, SMA type 1, Spinal Muscular Atrophy Type 1, SPX-01, Gene therapy, AAV9, SMN1, Pediatric gene therapy
- Phase
- Early Phase 1
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 1 participants (estimated)
- Lead sponsor
- Exir Gene PharmedIndustry (pharma, biotech, devices)
- Study start
- 1 Jan 2027 (estimated)
- Primary completion
- 1 Jan 2028 (estimated)
- Study completion
- 1 Jan 2028 (estimated)
- First posted
- 29 Oct 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Spinal muscular atrophy (SMA) type 1 is a severe, progressive, inherited neuromuscular disorder caused by biallelic loss of SMN1 gene function. Reduced survival motor neuron (SMN) protein expression leads to progressive motor neuron degeneration, muscle weakness, and respiratory and feeding complications.
SPX-01 is an investigational gene therapy based on a self-complementary adeno-associated virus serotype 9 (scAAV9) vector carrying a functional, codon-optimized human SMN1 transgene.
RISE is a prospective, first-in-human, open-label, single-center, single-arm, single-participant study designed primarily to characterize the safety and tolerability of SPX-01.
One infant aged 6 months or younger with genetically confirmed SMA type 1 and one or two SMN2 gene copies will receive a single intravenous infusion of SPX-01 at a target dose of 1.1 × 10^14 vector genomes/kg body weight.
Prophylactic oral prednisolone at 1 mg/kg/day will be started approximately 24 hours before infusion and maintained according to the protocol-defined initial treatment period. After 30 days, clinical findings, liver enzymes, bilirubin, and coagulation parameters will be reviewed to determine eligibility for gradual corticosteroid tapering.
Safety monitoring will include the occurrence, seriousness, severity, and relationship to treatment of adverse events and serious adverse events, including hepatic injury, thrombocytopenia, thrombotic microangiopathy, infusion reactions, cardiac abnormalities, and renal and respiratory complications. Adverse event severity will be evaluated using the protocol-specified Division of AIDS (DAIDS) grading criteria, with age-appropriate clinical and laboratory reference ranges.
Changes in CHOP-INTEND scores, motor milestones, compound muscle action potential, survival, respiratory function, and feeding status will be documented as exploratory observations. These observations will not be used to establish treatment efficacy.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- This is a prospective, open-label, single-center, single-arm study. One eligible infant will receive a single intravenous infusion of SPX-01. No randomization, blinding, or concurrent control group will be used. Safety, tolerability, feasibility, and exploratory clinical observations will be assessed longitudinally over 12 months.
| Arm | Type | Receives |
|---|---|---|
| Experimental: SPX-01 | Experimental | Genetic: SPX-01One infant with genetically confirmed spinal muscular atrophy type 1 will receive a single intravenous administration of SPX-01 at a target dose of 1.1 × 10^14 vector genomes/kg. |
Who may qualify
- Ages
- 1 day to 6 months
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (7 listed)
- 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.
Key exclusion criteria (11 listed)
- Active viral infection, HIV infection, or positive hepatitis B or hepatitis C serology.
- 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.
- 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.
- Gamma-glutamyl transferase (GGT) greater than 3 times the upper limit of normal.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| SPX-01SPX-01 is an investigational self-complementary AAV9 gene therapy vector containing a functional, codon-optimized human SMN1 transgene under the control of the CAG promoter. A single intravenous dose of 1.1 × 10^14 vector genomes/kg body weight. Oral prednisolone at 1 mg/kg/day will be initiated approximately 24 hours before infusion and continued for an initial 30-day treatment period. Subsequent tapering over at least 28 days will be performed only when protocol-specified clinical and laboratory criteria are met. Corticosteroid therapy may be extended in the presence of persistent liver abnormalities. | Genetic | Experimental: SPX-01 |
Primary outcome
Occurrence and Severity of Adverse Events and Serious Adverse Events
Time frame: Through Month 12
Number, nature, severity, seriousness, timing, outcome, and assessed relationship to SPX-01 of adverse events, serious adverse events, and dose-limiting toxicities using DAIDS grading criteria
Change in Alanine Aminotransferase (ALT) Levels From Baseline
Time frame: Baseline through Month 12
Change in serum ALT levels from baseline to each scheduled post-treatment assessment. ALT concentrations will be measured in U/L, and absolute changes from baseline will be summarized at each assessment time point.
Change in Aspartate Aminotransferase (AST) Levels From Baseline
Time frame: Baseline through Month 12
Change in serum AST levels from baseline to each scheduled post-treatment assessment. AST concentrations will be measured in U/L, and absolute changes from baseline will be summarized at each assessment time point.
Change in Platelet Count From Baseline
Time frame: Baseline through Month 12
Change in platelet count from baseline to each scheduled post-treatment assessment. Platelet counts will be measured in ×10⁹/L, and absolute changes from baseline will be summarized at each assessment time point.
Change in Serum Creatinine Levels From Baseline
Time frame: Baseline through Month 12
Change in serum creatinine levels from baseline to each scheduled post-treatment assessment as an indicator of renal function. Serum creatinine will be measured in mg/dL, and absolute changes from baseline will be summarized at each assessment time point.
Change in Cardiac Troponin I Levels From Baseline
Time frame: Baseline through Month 12
Change in cardiac troponin I levels from baseline to each scheduled post-treatment assessment as a marker of myocardial injury. Troponin I levels will be measured in ng/L, and absolute changes from baseline will be summarized at each assessment time point.
Change in Lactate Dehydrogenase (LDH) Levels From Baseline
Time frame: Baseline through Month 12
Change in serum lactate dehydrogenase (LDH) levels from baseline to each scheduled post-treatment assessment as a marker of hemolysis and tissue injury. LDH levels will be measured in U/L, and absolute changes from baseline will be summarized at each assessment time point.
Change in Hemoglobin Levels From Baseline
Time frame: Baseline through Month 12
Change in blood hemoglobin concentration from baseline to each scheduled post-treatment assessment as an indicator of hematologic safety and potential hemolysis. Hemoglobin levels will be measured in g/dL, and absolute changes from baseline will be summarized at each assessment time point.
Change in Total Bilirubin Levels From Baseline
Time frame: Baseline through Month 12
Change in serum total bilirubin levels from baseline to each scheduled post-treatment assessment as an indicator of hepatic safety and potential hemolysis. Total bilirubin levels will be measured in mg/dL, and absolute changes from baseline will be summarized at each assessment time point.
Occurrence of Thrombotic Microangiopathy (TMA) Following SPX-01 Administration
Time frame: Through Month 12
Assessment of the occurrence of thrombotic microangiopathy (TMA) in the participant following SPX-01 administration, based on clinical and laboratory findings consistent with microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. Suspected TMA will undergo clinical evaluation and diagnostic confirmation according to the study protocol. TMA occurrence will be reported as present or absent (Yes/No) during the follow-up period.
11 secondary outcomes
Overall Survival Status
Time frame: Through Month 12
Event-Free Survival Status
Time frame: Through Month 12
Change in Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) Total Score From Baseline
Time frame: Baseline; Months 1, 3, 6, and 12
Age at First Achievement of Full Head Control as Assessed by HINE-2
Time frame: Through Month 12
Age at First Achievement of Independent Rolling as Assessed by HINE-2
Time frame: Through Month 12
Age at First Achievement of Independent Sitting as Assessed by HINE-2
Time frame: Through Month 12
Age at First Achievement of Standing With Support as Assessed by HINE-2
Time frame: Through Month 12
Change in Compound Muscle Action Potential (CMAP) Amplitude From Baseline
Time frame: Baseline; Months 1, 3, 6, and 12
Ventilatory Support Status
Time frame: Baseline through Month 12
Swallowing Function Status
Time frame: Baseline through Month 12
Feeding Support Status
Time frame: Baseline through Month 12
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Oct 2026.
- Background: PubMed 40522061Mansouri V, Bemanalizadeh M, Ahmadbeigi N, Shakeri R, Saffar H. Long-Term Safety and Efficacy of AAV9 Vectors Expressing Human SMN1 Gene: A Preclinical Study. Basic Clin Pharmacol Toxicol. 2025 Jul;137(1):e70064. doi: 10.1111/bcpt.70064.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Mahmoudreza Ashrafi, MD principal investigator
Tehran University of Medical Sciences
Maryam Bemanalizadeh, MD study chair
Exir Gene Pharmed
Vahid Mansouri, MD study chair
Exir Gene Pharmed
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Early Phase 1 study testing SPX-01 in people with Spinal Muscular Atrophy (SMA), run by Exir Gene Pharmed at 1 site in Iran.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 11 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 29 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Iran. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Early Phase 1 (sometimes called Phase 0) studies give a very small amount of a treatment to a few people, mainly to see how the body handles it.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Maryam Bemanalizadeh, MD (+982161479999, maryam.bemanalizadeh@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Occurrence and Severity of Adverse Events and Serious Adverse Events (time frame: Through Month 12). The study lists 10 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07903376, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Oct 2026.