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.

From the Department of Health & Human Services:

We are pleased to let you know that the National Institute of Neurological Disorders and Stroke (NINDS), through the NINDS Pilot Therapeutics Network (NPTUNE) program, is sponsoring two research studies to evaluate the safety and tolerability of sodium phenylbutyrate (NaPB) in subjects with Type I or Type II/III Spinal Muscular Atrophy (SMA). Both studies are Phase I dosage escalation studies that will assess safety, maximum tolerated dosage, pharmacokinetics, and bioactivity. It is anticipated that enrollment will begin soon.

Each study will be conducted in two stages. Stage 1 is the dosage escalation stage where maximum tolerated dosage will be defined. Safety, tolerability, and pharmacokinetics will be evaluated in this stage. Stage 2 will enroll different subjects who will receive NaPB at the maximum tolerated dosage identified in Stage 1. Safety, tolerability, and pharmacokinetics, as well as levels of SMN mRNA and protein, will be evaluated in Stage 2.

For additional information about these NPTUNE SMA studies, including eligibility criteria and contact information, please refer to our posting on www.ClinicalTrials.gov. The link for the Type I study is http://www.clinicaltrials.gov/ct/show/NCT00439218?order=3. The link to the Type II/III study is http://www.clinicaltrials.gov/ct/show/NCT00439569?order=4. Each participating clinical site was selected by competitive application process and will be listed on this website once ready to begin enrollment.