Study to Evaluate Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy

• Register: ClinicalTrials.gov
• Last refreshed on: 10 March 2025
• Main ID: NCT00528268
• Date of registration: 10/09/2007
• Prospective Registration: No
• Primary sponsor: University of Utah
• Public title: Study to Evaluate Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy STOPSMA
• Scientific title: Prospective Phase I/II Study to Evaluate Effects of Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy
• Date of first enrolment: July 2007
• Target sample size: 22
• Recruitment status: Completed
• URL: https://clinicaltrials.gov/ct2/show/NCT00528268
• Study type: Interventional
• Study design: Allocation: Non-Randomized. Intervention model: Parallel Assignment. Primary purpose: Treatment. Masking: None (Open Label).
• Phase: Phase 1/Phase 2

Countries of recruitment

United States

Contacts

• Name: Kathryn Swoboda, MD
• Affiliation: University of Utah

Key inclusion & exclusion criteria

Inclusion Criteria:

- 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.

Exclusion Criteria:

-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.


Age minimum: 1 Day
Age maximum: 6 Months
Gender: All

Health Condition(s) or Problem(s) studied

Spinal Muscular Atrophy

Intervention(s)

Drug: Sodium phenylbutyrate

Primary Outcome(s)

Safety and Tolerability of Sodium Phenylbutyrate in Neonates and Infants With SMA [Time Frame: 24 months]

Secondary ID(s)

22183

1R01HD054599-01

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Results

• Results available: Yes
• Date Posted: 03/07/2015
• URL: https://clinicaltrials.gov/ct2/show/results/NCT00528268