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

This study has been completed.
PTC Therapeutics
Information provided by (Responsible Party):
Hoffmann-La Roche
ClinicalTrials.gov Identifier:
First received: July 25, 2013
Last updated: May 4, 2016
Last verified: May 2016
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.

Muscular Atrophy, Spinal

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: A Single Center Study to Collect Samples From SMA Patients for Biomarker Analysis

Resource links provided by NLM:

Further study details as provided by Hoffmann-La Roche:

Primary Outcome Measures:
  • SMN1/SMN2 detection in blood by mRNA assay [ Time Frame: 1 day ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • SMN protein level in blood/lymphocytes [ Time Frame: 1 day ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA
Blood Samples

Enrollment: 36
Study Start Date: August 2013
Study Completion Date: February 2014
Primary Completion Date: February 2014 (Final data collection date for primary outcome measure)


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with spinal muscular atrophy

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01910168

United States, Michigan
Kalamazoo, Michigan, United States, 49007
United States, Utah
Salt Lake, Utah, United States, 84108
Sponsors and Collaborators
Hoffmann-La Roche
PTC Therapeutics
Study Director: Clinical Trials Hoffmann-La Roche
  More Information

Responsible Party: Hoffmann-La Roche
ClinicalTrials.gov Identifier: NCT01910168     History of Changes
Other Study ID Numbers: BE29002 
Study First Received: July 25, 2013
Last Updated: May 4, 2016
Health Authority: United States: Food and Drug Administration

Additional relevant MeSH terms:
Muscular Atrophy
Muscular Atrophy, Spinal
Central Nervous System Diseases
Motor Neuron Disease
Nervous System Diseases
Neurodegenerative Diseases
Neurologic Manifestations
Neuromuscular Diseases
Neuromuscular Manifestations
Pathological Conditions, Anatomical
Signs and Symptoms
Spinal Cord Diseases

ClinicalTrials.gov processed this record on May 23, 2016