Spinal Muscular AtrophyPhase 1/2STOPSMANCT00528268
Study to Evaluate Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy
A Phase 1/2 study testing Sodium phenylbutyrate in people with Spinal Muscular Atrophy, run by University of Utah at 1 site in United States.
Trial summary
In this single-center trial, we will evaluate the effects of NaPB on presymptomatic Spinal Muscular Atrophy (SMA) type I (cohort 1)and presymptomatic SMA type II (cohort 2) infants. A variety of outcome measures will be performed at each study visit to follow the course of the disease. Read more about this study
- Who is it for?
- Ages 1 day to 6 months
- Conditions the study is for
- Spinal Muscular Atrophy
- What is being tested?
- Sodium phenylbutyrate
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 22 participants
- Where
- 1 siteUnited States
- Study dates
- Jul 2007to Dec 2013
- Phase
- Phase 1/2
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
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
- Laboratory documentation of homozygous absence of SMN1 exon 7.
- Confirmation of no more than 3 SMN2 copies for cohort 1; no more than 4 copies for cohort 2.
- Family history of affected sibling with SMA type I for cohort 1 and SMA type II for cohort 2.
- Age ≤ 3 months, cohort 1; Age ≤ 6 months, cohort 2.
- Written informed consent of parents/guardian.
- Laboratory results demonstrating normal values for age.
Who cannot join
- -Evidence of hepatic insufficiency, renal insufficiency, edema with sodium retention, known seizure disorder, urea cycle disorder, cardiac arrhythmia, congenital heart defect, hypertension, significant central nervous system (CNS) impairment, or neurodegenerative or neuromuscular disease other than SMA.
- History of allergy/sensitivity to sodium phenylbutyrate (NaPB).
- Use of NaPB within 30 days of study entry.
- Serious illness requiring hospitalization ≤ 14 days prior to study entry.
- Use of medications intended for the treatment of SMA including riluzole, valproic acid, hydroxyurea, oral use of albuterol, NaPB, butyrate derivatives, creatine, growth hormone, anabolic steroids, probenecid, oral or parenteral use of corticosteroids at entry, or agents anticipated to increase or decrease muscle strength or agents with presumed histone deacetylase (HDAC) inhibition within 30 days prior to study entry.
- Unwillingness to travel for study assessments.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Prospective Phase I/II Study to Evaluate Effects of Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy
In this single-center trial, we will evaluate the effects of NaPB on presymptomatic Spinal Muscular Atrophy (SMA) type I (cohort 1)and presymptomatic SMA type II (cohort 2) infants. A variety of outcome measures will be performed at each study visit to follow the course of the disease. Total duration of the study for type I infants will be 18 months, for type II infants, 24 months.
Read the detailed description
Perform a phase I/II study to evaluate effects of sodium phenylbutyrate (NaPB) in a cohort of presymptomatic infants, predicted to develop either SMA type 1 or SMA type 2 given genotype and family history of an older sibling with the respective SMA type. Primary outcomes: 1) to collect additional safety and pharmacokinetic data in neonates and young infants administered NaPB within the dosing guidelines already in use for urea cycle disorder therapy, and 2) to determine possible benefit of early treatment intervention with regard to status of denervation and functional motor status at specific time points for which we have matched natural history data to perform a comparison between cohorts and between each cohort and participants from our natural history database matched for age, SMN2 dosage and gender.
- Conditions
- Spinal Muscular Atrophy
- Being tested
- Sodium phenylbutyrate
- Keywords
- Spinal Muscular Atrophy, SMA, Sodium Phenylbutyrate
- Medical subject headings
- Muscular Atrophy, Spinal
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Sodium phenylbutyrateDrug
Also called NaPB
Sodium phenylbutyrate is dispensed as a powder, 450-600 mg/kg/day, divided into four doses. For cohort 1, treatment and monitoring continues for 18 months. For cohort 2, treatment and monitoring continues for 24 months.
| Study group | Role | What they receive |
|---|---|---|
| cohort 1 | Active comparator | Treatment with sodium phenylbutyrate; age < 3 months; history of sibling(s) with type I SMA; SMN2 dosage < 3 copies Receives: Drug: Sodium phenylbutyrate |
| cohort 2 | Active comparator | Treatment with sodium phenylbutyrate; age < 6 months; history of sibling(s) with type II SMA; SMN2 dosage < 4 copies Receives: Drug: Sodium phenylbutyrate |
What is being measured
The primary outcome is the main question the study is designed to answer.
Safety and Tolerability of Sodium Phenylbutyrate in Neonates and Infants With SMA
The number of participants able to achieve specific developmental milestones, such as sitting unsupported or walking independently, during the study period.
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Sep 2007 (estimated)
- Study startJul 2007
- Primary completionDec 2013
- Study completionDec 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Spinal Muscular AtrophyStudies of the same condition, open and under way.
- More trials run by University of UtahThe sponsor's other registered studies.
- 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
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 22 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Utah
- Sponsor type
- University, hospital or other
- Collaborators
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Responsible party
- Sponsor
- Investigators
- Kathryn Swoboda, MD, Principal investigator, University of Utah
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00528268
- Sponsor's protocol ID
- 22183
- Other IDs
- 1R01HD054599-01
- Acronym
- STOPSMA
- Status last verified
- Jun 2017
- First submitted
- 10 Sep 2007
- Last updated
- 28 Feb 2025
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- Yes
- Individual data sharing
- Yes: Upon request, to include the following outcomes data: 1) degree of denervation as measured over time by maximum ulnar compound muscle action potential amplitude (both cohorts); % of patients who die or require \> 16 hours ventilator support for more than 4 weeks by 18 months of age (cohort I); % of patients who achieve independent sitting for at least 30 seconds (cohort I); % of patient who achieve independent ambulation by 2 years of age (cohort II)
Study at a glance
From the registry record, last updated by the sponsor on 28 Feb 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prospective Phase I/II Study to Evaluate Effects of Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy
- ClinicalTrials.gov ID
- NCT00528268
- Acronym / sponsor ID
- STOPSMA / 22183
- Conditions
- Spinal Muscular Atrophy
- Keywords
- Spinal Muscular Atrophy, SMA, Sodium Phenylbutyrate
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 22 participants (actual)
- Lead sponsor
- University of UtahUniversity, hospital or other
- Collaborators
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Study start
- Jul 2007
- Primary completion
- Dec 2013 (actual)
- Study completion
- Dec 2013 (actual)
- First posted
- 12 Sep 2007 (estimated)
- Results
- Posted 3 Jul 2015
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
In this single-center trial, we will evaluate the effects of NaPB on presymptomatic Spinal Muscular Atrophy (SMA) type I (cohort 1)and presymptomatic SMA type II (cohort 2) infants. A variety of outcome measures will be performed at each study visit to follow the course of the disease. Total duration of the study for type I infants will be 18 months, for type II infants, 24 months.
Detailed description
Perform a phase I/II study to evaluate effects of sodium phenylbutyrate (NaPB) in a cohort of presymptomatic infants, predicted to develop either SMA type 1 or SMA type 2 given genotype and family history of an older sibling with the respective SMA type. Primary outcomes: 1) to collect additional safety and pharmacokinetic data in neonates and young infants administered NaPB within the dosing guidelines already in use for urea cycle disorder therapy, and 2) to determine possible benefit of early treatment intervention with regard to status of denervation and functional motor status at specific time points for which we have matched natural history data to perform a comparison between cohorts and between each cohort and participants from our natural history database matched for age, SMN2 dosage and gender.
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| cohort 1 | Active comparator | Drug: Sodium phenylbutyrateTreatment with sodium phenylbutyrate; age < 3 months; history of sibling(s) with type I SMA; SMN2 dosage < 3 copies |
| cohort 2 | Active comparator | Drug: Sodium phenylbutyrateTreatment with sodium phenylbutyrate; age < 6 months; history of sibling(s) with type II SMA; SMN2 dosage < 4 copies |
Who may qualify
- Ages
- 1 day to 6 months
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (6 listed)
- Laboratory documentation of homozygous absence of SMN1 exon 7.
- Confirmation of no more than 3 SMN2 copies for cohort 1; no more than 4 copies for cohort 2.
- Family history of affected sibling with SMA type I for cohort 1 and SMA type II for cohort 2.
- Age ≤ 3 months, cohort 1; Age ≤ 6 months, cohort 2.
- Written informed consent of parents/guardian.
Key exclusion criteria (6 listed)
- -Evidence of hepatic insufficiency, renal insufficiency, edema with sodium retention, known seizure disorder, urea cycle disorder, cardiac arrhythmia, congenital heart defect, hypertension, significant central nervous system (CNS) impairment, or neurodegenerative or neuromuscular disease other than SMA.
- History of allergy/sensitivity to sodium phenylbutyrate (NaPB).
- Use of NaPB within 30 days of study entry.
- Serious illness requiring hospitalization ≤ 14 days prior to study entry.
- Use of medications intended for the treatment of SMA including riluzole, valproic acid, hydroxyurea, oral use of albuterol, NaPB, butyrate derivatives, creatine, growth hormone, anabolic steroids, probenecid, oral or parenteral use of corticosteroids at entry, or agents anticipated to increase or decrease muscle strength or agents with presumed histone deacetylase (HDAC) inhibition within 30 days prior to study entry.
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 |
|---|---|---|
| Sodium phenylbutyrateAlso: NaPBSodium phenylbutyrate is dispensed as a powder, 450-600 mg/kg/day, divided into four doses. For cohort 1, treatment and monitoring continues for 18 months. For cohort 2, treatment and monitoring continues for 24 months. | Drug | cohort 1, cohort 2 |
Primary outcome
Safety and Tolerability of Sodium Phenylbutyrate in Neonates and Infants With SMA
Time frame: 24 months
The number of participants able to achieve specific developmental milestones, such as sitting unsupported or walking independently, during the study period.
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Feb 2025.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Individual participant dataSharing planned: Yes. Upon request, to include the following outcomes data: 1) degree of denervation as measured over time by maximum ulnar compound muscle action potential amplitude (both cohorts); % of patients who die or require > 16 hours ventilator support for more than 4 weeks by 18 months of age (cohort I); % of patients who achieve independent sitting for at least 30 seconds (cohort I); % of patient who achieve independent ambulation by 2 years of age (cohort II)
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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. This study is not recruiting at the moment.
Kathryn Swoboda, MD principal investigator
University of Utah
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing Sodium phenylbutyrate in people with Spinal Muscular Atrophy, run by University of Utah at 1 site in United States.
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 6 inclusion and 6 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: finished, as of the sponsor's last update on 28 Feb 2025. 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 United States. 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 combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Yes. Results are posted in the registry (first posted 3 Jul 2015). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Safety and Tolerability of Sodium Phenylbutyrate in Neonates and Infants With SMA (time frame: 24 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 28 Feb 2025.