Working… Menu
Trial record 6 of 14 for:    Hoffmann-La Roche SMA

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

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.

Condition or disease
Muscular Atrophy, Spinal

Layout table for study information
Study Type : Observational
Actual Enrollment : 36 participants
Observational Model: Case Control
Time Perspective: Prospective
Official Title: A Single Center Study to Collect Samples From SMA Patients for Biomarker Analysis
Study Start Date : August 2013
Actual Primary Completion Date : February 2014
Actual Study Completion Date : February 2014


Primary Outcome Measures :
  1. SMN1/SMN2 detection in blood by mRNA assay [ Time Frame: 1 day ]

Secondary Outcome Measures :
  1. SMN protein level in blood/lymphocytes [ Time Frame: 1 day ]

Biospecimen Retention:   Samples With DNA
Blood Samples

Information from the National Library of Medicine

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, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01910168

Layout table for location information
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
Layout table for investigator information
Study Director: Clinical Trials Hoffmann-La Roche

Layout table for additonal information
Responsible Party: Hoffmann-La Roche Identifier: NCT01910168     History of Changes
Other Study ID Numbers: BE29002
First Posted: July 29, 2013    Key Record Dates
Last Update Posted: November 2, 2016
Last Verified: November 2016
Additional relevant MeSH terms:
Layout table for MeSH terms
Muscular Atrophy
Muscular Atrophy, Spinal
Pathological Conditions, Anatomical
Neuromuscular Manifestations
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Spinal Cord Diseases
Central Nervous System Diseases
Motor Neuron Disease
Neurodegenerative Diseases
Neuromuscular Diseases