A clinical trial entitled “Phase I/II Trial of Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy Type I (CARNI-VAL Type I)” is currently recruiting type 1 SMA patients up to 9 months old. According to study description on ClinicalTrials.gov, investigators aim “to test safety and evaluate early treatment intervention with valproic acid and carnitine in moderating SMA symptoms of Type I infants.” The detailed description goes on to say:

Valproic acid (VPA) is a medicine that has been used for many years to treat patients with epilepsy. Recent research suggests that VPA may be able to upregulate expression of a backup copy of the SMN gene in SMA patient cell lines. In addition, some preliminary data suggests it may prolong survival in animal models of SMA. Because VPA can deplete carnitine in children with SMA Type I, carnitine is added to help prevent possible toxicity.

In this multi-center trial, we will evaluate the effects of VPA/carnitine on infants with SMA type I. A variety of outcome measures, including assessment of safety, will be performed at each study visit to follow the course of the disease. The protocol includes two baseline visits over a period of two weeks, two clinical assessments on medication at 3 and 6 months, and then 6 months additional followup via telephone. Total duration of the study will be approximately 12 months.

This is an international, multi-center trial with study sites at:

• Johns Hopkins University in Baltimore Maryland
• Children’s Hospital of Michigan in Detroit
• Ohio State University Medical Center in Columbus
• University of Utah/Primary Children’s Medical Center in Salt Lake City
• University of Wisconsin Children’s Hospital in Madison
• Hospital Sainte-Justine in Montreal, Quebec, Canada
• Klinikum der Universität zu Köln in Cologne, Germany

For more details about the clinical trial, including eligibility criteria and contact information, click here. For more information about clinical trials in general, click here.

FightSMA is funding a new study called “Prospective Phase I/II Study to Evaluate Effects of Sodium Phenylbutyrate in Pre-symptomatic Infants with Spinal Muscular Atrophy” or “STOP SMA” being conducted by the laboratory of Dr. Kathy Swoboda at University of Utah School of Medicine. The study will assess the safety, tolerability and potential efficacy of sodium phenylbutyrate (NaPB) in presymptomatic infants genetically confirmed to have SMA.

Sodium phenylbutyrate (NaPB) is a medicine that has been used for many years to treat patients with urea cycle disorders. Recent research suggests that NaPB may be able to prolong survival in animal models of motor-neuron disease. In addition, pilot data in human infants have suggested a possible benefit of early administration of NaPB. Since significant motor-neuron loss occurs in the first few weeks to months of life in the most severely affected infants, the earlier that NaPB treatment can be started, the greater the potential benefit in delaying onset and lessening severity of SMA symptoms.

For more information about this study, including eligibility criteria, and for links to other clinical trials, please visit the FightSMA website.