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A Study to Collect Blood Samples From Patients With Spinal Muscular Atrophy for Biomarker Analysis

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01910168
Recruitment Status : Completed
First Posted : July 29, 2013
Last Update Posted : November 2, 2016
PTC Therapeutics
Information provided by (Responsible Party):
Hoffmann-La Roche

Tracking Information
First Submitted Date July 25, 2013
First Posted Date July 29, 2013
Last Update Posted Date November 2, 2016
Study Start Date August 2013
Actual Primary Completion Date February 2014   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: July 26, 2013)
SMN1/SMN2 detection in blood by mRNA assay [ Time Frame: 1 day ]
Original Primary Outcome Measures Same as current
Change History Complete list of historical versions of study NCT01910168 on Archive Site
Current Secondary Outcome Measures
 (submitted: July 26, 2013)
SMN protein level in blood/lymphocytes [ Time Frame: 1 day ]
Original Secondary Outcome Measures Same as current
Current Other Outcome Measures Not Provided
Original Other Outcome Measures Not Provided
Descriptive Information
Brief Title A Study to Collect Blood Samples From Patients With Spinal Muscular Atrophy for Biomarker Analysis
Official Title A Single Center Study to Collect Samples From SMA Patients for Biomarker Analysis
Brief Summary In this single center study blood samples for biomarker analysis will be collected from patients with spinal muscular atrophy. Up to 21 mL blood will be drawn from eligible patients at a single visit.
Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Case Control
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Blood Samples
Sampling Method Probability Sample
Study Population Patients with spinal muscular atrophy
Condition Muscular Atrophy, Spinal
Intervention Not Provided
Study Groups/Cohorts Cohort
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: April 7, 2014)
Original Estimated Enrollment
 (submitted: July 26, 2013)
Actual Study Completion Date February 2014
Actual Primary Completion Date February 2014   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • Self-identified as 5q-autosomal recessive spinal muscular atrophy (SMA) type I, II or III as judged by their neurologist upon diagnosis
  • Ability and willingness to provide blood samples
  • Willingness (by the patient or patient's parents or legal guardian) to complete to their best ability a questionnaire which requests specific clinical and genetic information
  • Able to participate and willing to give written informed consent or assent. Informed consent will be obtained from the patient, or the patient's parent or legal guardian.

Exclusion Criteria:

  • Any known genetic condition other than spinal muscular atrophy, unless it is not interfering with the purpose of this study based on the Sponsor's judgment
  • Participation in a clinical trial (except observational studies) within the previous 14 days
  • Donation of blood or significant blood loss within three months prior to screening
  • Concomitant disease or condition that could interfere with, or treatment of which might interfere with, the conduct of this study, or that would, in the opinion of the investigator, pose an unacceptable risk to the patient in this study
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
Administrative Information
NCT Number NCT01910168
Other Study ID Numbers BE29002
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Hoffmann-La Roche
Study Sponsor Hoffmann-La Roche
Collaborators PTC Therapeutics
Study Director: Clinical Trials Hoffmann-La Roche
PRS Account Hoffmann-La Roche
Verification Date November 2016