Spinal Muscular Atrophy
Conditions
Keywords
Spinal Muscular Atrophy (SMA), Valproic Acid
Brief summary
This is an open label phase I/II clinical trial to assess safety, tolerability and potential effect on SMN mRNA and protein in vivo of a compound in which preliminary evidence supports a potential effect on SMN levels in vitro.
Detailed description
This is an open label phase I/II trial of valproic acid in 40 SMA subjects \> 2 years of age with severe, intermediate, and mild phenotypes. Primary outcome measures includes laboratory and physical examination assessments to monitor effects on liver, hematologic, metabolic and nutritional status. Secondary outcomes includes measures of gross motor function; electrophysiologic measures of denervation; DEXA estimates of body composition, bone mineral density and content; measures of pulmonary function; and quantitative SMN mRNA and protein levels in blood cells. Subjects will need 2-3 baseline visits over a 3 -6 month period prior to enrollment. Follow-up visits will be scheduled at 3, 6 and 12 months on treatment.
Interventions
DRUGValproic Acid
Sponsors
Families of Spinal Muscular Atrophy
Leadiant Biosciences, Inc.
Abbott
University of Utah
Study design
Allocation
NON_RANDOMIZED
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
2 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Patients must have a diagnosis of SMA, confirmed by genetic testing * Only patients 2 years of age and older at enrollment will be eligible
Exclusion criteria
* Patients taking any medications with known hepatotoxicity, congenital metabolic disorders or on multiple anticonvulsant medications * Patients taking medications which may interact with VPA * Patients on ventilatory support for more than 16 hours per day * Patients currently enrolled in other treatment trials
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To assess safety and tolerability of VPA in SMA patients greater than 2 years of age | — |
Secondary
| Measure | Time frame |
|---|---|
| Measures of gross motor function | — |
| Electrophysiologic measures of denervation | — |
| DEXA estimates of body composition, bone mineral density and content | — |
| Measures of pulmonary function | — |
| To look for a potential in vivo effect of VPA on SMN mRNA in patient blood cells at routinely used clinical doses | — |
Countries
United States
Outcome results
None listed