Spinal Muscular Atrophy Clinical Trial
Official title:
A Pilot Study of Biomarkers for Spinal Muscular Atrophy
The goal of this pilot study is to identify a marker or panel of markers in the blood or urine from a wide range of Spinal Muscular Atrophy (SMA) patients that segregates with measures of clinical severity. From this identification of candidate biomarkers, it is hoped that further investigations, both longitudinal natural history and clinical efficacy studies, will verify a biomarker with the sensitivity and specificity that will allow its eventual use as a validated pharmacodynamic marker or surrogate endpoint. In addition, this effort may elucidate biological pathways that may be potential therapeutic targets.
Spinal Muscular Atrophy (SMA) is one of the two most common inherited children's
neuromuscular disorders. There currently is no cure and no therapeutics approved to slow
progression of the disease. SMA is characterized by a loss of alpha motor neurons in the
spinal cord, severe atrophy of proximal muscles and progressive debility and disability due
to respiratory, gastrointestinal and functional complications of the disease.
Although SMA is a relatively common orphan disease, recruitment of patients for the number
of candidate therapies is expected to become rate-limiting for the development of
therapeutics.
STUDY OBJECTIVES
Primary:
- To identify candidate blood and urine biochemical markers that correlate with disease
severity as determined by the Modified Hammersmith Functional Motor Scale across a
range of type I, type II and type III children with Spinal Muscular Atrophy (SMA) (1).
Secondary:
- To determine if there are biomarkers from types I-III SMA patients that correlate with
SMA type, age at disease onset, 10-meter Timed Walk Test (ambulatory subjects only),
pulmonary function, nutritional assessment, SMN protein level, SMN transcript level or
SMN2 copy number.
- To determine if identified candidate biomarkers are associated with the disease state
through comparison of SMA specimens with control volunteer specimens.
- To determine if there are potential biochemical pathways that may represent targets for
therapeutic intervention in SMA.
;
Observational Model: Cohort, Time Perspective: Cross-Sectional
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