An Early Phase 1 interventional study of SPX-01 in Spinal Muscular Atrophy (SMA), sponsored by Exir Gene Pharmed. Not yet recruiting at 1 site in Iran. Open to participants aged 1 Day to 6 Months. Per ClinicalTrials.gov, last updated 2026-10-29.
Sponsored by Exir Gene Pharmed · Early Phase 1, Interventional, and Treatment
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:
The infant will:
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.
282 studies on the registry are indexed under Muscular Atrophy, Spinal; 73 are open to participants now.
This study's planned enrollment of 1 is below the median of 29 across 156 interventional studies indexed under Muscular Atrophy, Spinal.
Browse Muscular Atrophy, Spinal studies →This is the only study on the registry with Exir Gene Pharmed as lead sponsor.
Counted across the registry records on this site, refreshed daily.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
The human immunodeficiency virus, which weakens the immune system.
Many studies now accept people whose HIV is controlled on treatment, judged by the viral load and the CD4 count. Check the limits this study sets.
Hepatitis B is a virus that infects the liver. These are separate tests: HBsAg positive usually means a current infection (a recent vaccination can briefly cause it too); total anti-HBc (HBcAb) positive means an infection now or in the past; HBV DNA measures how much virus is in the blood.
Some studies accept a past infection if HBV DNA is undetectable, sometimes with antiviral medicine during the study. Check what this study allows.
Hepatitis C is a virus that infects the liver. An HCV antibody test can stay positive after an infection has cleared (and is occasionally positive without one); an HCV RNA test shows whether the virus is there now.
After treatment, hepatitis C counts as cured when HCV RNA is still undetectable 12 weeks or more after the treatment ended. Studies often accept people cured this way.
A weakened immune system. It can come from an illness, such as HIV or some blood cancers, or from medicines that turn the immune system down, for example after an organ transplant or for an autoimmune disease; steroids at higher doses count.
Read whether the line is about a condition or about medicines, and which medicines and doses it means.
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
The top of the normal range for a blood test, as set by the laboratory that runs it. Each lab prints its own range next to your result.
“≤ 2.5 × ULN” means the result can be up to two and a half times that top value.
A yellow substance made when red blood cells are broken down, which the liver clears. A high level can mean a problem with the liver or the bile ducts.
Criteria often allow more for people with Gilbert’s syndrome, a harmless inherited condition that raises bilirubin.
The protein in red blood cells that carries oxygen. A low level is anaemia, which can cause tiredness and breathlessness. Measured in g/dL or g/L (9 g/dL is 90 g/L).
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
HIV
The human immunodeficiency virus, which weakens the immune system.
Many studies now accept people whose HIV is controlled on treatment, judged by the viral load and the CD4 count. Check the limits this study sets.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Hepatitis B tests
Hepatitis B is a virus that infects the liver. These are separate tests: HBsAg positive usually means a current infection (a recent vaccination can briefly cause it too); total anti-HBc (HBcAb) positive means an infection now or in the past; HBV DNA measures how much virus is in the blood.
Some studies accept a past infection if HBV DNA is undetectable, sometimes with antiviral medicine during the study. Check what this study allows.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Hepatitis C tests
Hepatitis C is a virus that infects the liver. An HCV antibody test can stay positive after an infection has cleared (and is occasionally positive without one); an HCV RNA test shows whether the virus is there now.
After treatment, hepatitis C counts as cured when HCV RNA is still undetectable 12 weeks or more after the treatment ended. Studies often accept people cured this way.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Immunosuppression
A weakened immune system. It can come from an illness, such as HIV or some blood cancers, or from medicines that turn the immune system down, for example after an organ transplant or for an autoimmune disease; steroids at higher doses count.
Read whether the line is about a condition or about medicines, and which medicines and doses it means.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Corticosteroids (steroids)
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
ULN (upper limit of normal)
The top of the normal range for a blood test, as set by the laboratory that runs it. Each lab prints its own range next to your result.
“≤ 2.5 × ULN” means the result can be up to two and a half times that top value.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Bilirubin
A yellow substance made when red blood cells are broken down, which the liver clears. A high level can mean a problem with the liver or the bile ducts.
Criteria often allow more for people with Gilbert’s syndrome, a harmless inherited condition that raises bilirubin.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Hemoglobin (Hb)
The protein in red blood cells that carries oxygen. A low level is anaemia, which can cause tiredness and breathlessness. Measured in g/dL or g/L (9 g/dL is 90 g/L).
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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.
Genetic: SPX-01
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.
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
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: Through Month 12
Overall Survival Status
Documentation of whether the participant remains alive during the 12-month follow-up period
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: Baseline through Month 12
Plan to share: Undecided
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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