SMA Studies

by Quest Staff on July 1, 2006 - 2:34pm

QUEST Vol. 13, No. 4

Several groups are testing compounds in spinal muscular atrophy (SMA), as well as studying neuromuscular and cognitive aspects of this disease.


Pre-trial SMA study

Researchers who are part of the Pediatric Neuromuscular Clinical Research Network are seeking 270 people with types 1, 2 or 3 spinal muscular atrophy (SMA) whose disorder was diagnosed before age 19, to gather data necessary for a future clinical trial. Participating centers are in Boston, New York and Philadelphia, and several visits to these centers are necessary.

Participants will undergo physical exams, lab tests and biopsies. See, or visit and select SMA from the drop-down menu.

Sodium phenylbutyrate

A study at the University of Utah in Salt Lake City to test sodium phenylbutyrate remains open for infants who don’t yet have symptoms but have had an SMA diagnosis confirmed by genetic testing.

A recent pilot trial of sodium phenylbutyrate conducted in Europe has suggested that the drug can be safely given and may be beneficial in people with SMA.

For information, see

Valproic acid, carnitine

A study that combines valproic acid with carnitine for children and adolescents with types 2 or 3 spinal muscular atrophy has opened at five U.S. centers.

Participants will be placed in two groups: Group 1 is for children with SMA who are between 2 and 8 years old and can sit independently but can’t walk. Group 2 is for children with SMA who are between 3 and 17 years old and can stand or walk.

Laboratory experiments have suggested that valproic acid may increase production of full-length SMN, the protein needed but deficient in SMA. Carnitine is a molecule that transports fatty acids (metabolic fuel) into the mitochondria, the cells’ energy production centers.

For information, see

Early mastery of grammar

In a small study, children 1.5 to 3 years old with type 2 SMA came out ahead of their able-bodied peers on an indicator of grammar mastery, say investigators at University College London. Their mastery of vocabulary, however, wasn’t better than that of their able-bodied peers until they reached age 2.

Jechil Sieratzki and Bencie Woll, who published their latest findings in the November issue of the European Journal of Paediatric Neurology, say that on average, the SMA-affected children they studied scored in the 78th percentile (better than or equal to 78 percent of their age peers) on the grammar mastery indicator, with three scoring above the 90th percentile.

Their vocabulary scores were ahead after age 2, the point at which learning new words becomes less dependent on exploring the physical environment, Sieratzki said.

“Children with SMA appear to explore language in place of a world they cannot reach, getting to know grammar while able-bodied toddlers are engaged with the physical environment,” the researchers write.

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