A Pilot Study of Biomarkers for Spinal Muscular Atrophy
- Conditions
- Spinal Muscular Atrophy
- Registration Number
- NCT00756821
- Lead Sponsor
- Carelon Research
- Brief Summary
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.
- Detailed Description
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.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 130
- Age 2 to 12 years, inclusive
- In good health (other than SMA) in the judgement of the clinical investigator ar the time of assessment
- Systemic or specific-organ illness
- Any known genetic condition other than SMA requiring pharmaceutical treatment
- Use of any putative SMN-enhancing medications or treatments in the past 14 days prior to enrollment
- Use of carnitine, creatine, oral albuterol or riluzole for 14 days prior to enrollment
- Use of any oral prescription medications for 14 days prior to enrollment (exceptions: anti-reflux medications, constipation or stoll softening medications, stool bulking agents, and inhaled bronchodilator medications)
- Any illness requiring treatment of antibiotics or anti-inflammatory medication within the past 14 days
- Any rash requiring treatment within the past 7 days
- Any severe asthma attack requiring treatment with oral or parenteral steroids within the past 7 days
- Any fever over 100 degrees Fahrenheit or 38 degree Celsius within the past 7 days
- Any immunization within the past 7 days
- Any injury sustained that resulted in a bone fracture or needed stitches within the past 7 days
- Any surgery within the past 7 days
- Any receipt of anesthesia within the past 7 days
- Any Emergency Room visit or hospitalization within the past 7 days
- Any stomach illness with vomiting within the past 7 days
- Any migraine headache within the past 7 days
- Participation in a clinical trial (except observational studies) within the past 7 days
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method 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 year
- Secondary Outcome Measures
Name Time Method 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, pulmonary function, nutritional assessment, SMN protein level, SMN transcript level or SMN2 copy number. 1 year To determine if identified candidate biomarkers are associated with the disease state through comparison of SMA specimens with control volunteer specimens. 1 year
Trial Locations
- Locations (18)
The Children's Hospital of Philadelphia
🇺🇸Philadelphia, Pennsylvania, United States
Children's Medical Center - Dallas
🇺🇸Dallas, Texas, United States
Columbia University SMA Clinical Research Center
🇺🇸New York, New York, United States
Children's Hospital Boston
🇺🇸Boston, Massachusetts, United States
Mayo Clinic Rochester
🇺🇸Rochester, Minnesota, United States
University of Iowa
🇺🇸Iowa City, Iowa, United States
The Ohio State University
🇺🇸Columbus, Ohio, United States
University of Alabama at Birmingham
🇺🇸Birmingham, Alabama, United States
Stanford University
🇺🇸Stanford, California, United States
The Children's Hospital
🇺🇸Aurora, Colorado, United States
Johns Hopkins Hospital
🇺🇸Baltimore, Maryland, United States
Children's Hospital of Michigan, Detroit
🇺🇸Detroit, Michigan, United States
University of Utah
🇺🇸Salt lake City, Utah, United States
Washington University Medical School
🇺🇸St. Louis, Missouri, United States
Cincinnati Children's Hospital Medical Center
🇺🇸Cincinnati, Ohio, United States
Children's Hospital - London Health Sciences Center
🇨🇦London, Ontario, Canada
The Hospital for Sick Children
🇨🇦Toronto, Ontario, Canada
University of Wisconsin Hospital and Clinics
🇺🇸Madison, Wisconsin, United States