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International SMA Patient Registry

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: NCT00466349
Recruitment Status : Completed
First Posted : April 27, 2007
Last Update Posted : August 7, 2018
Cure SMA
Information provided by (Responsible Party):
Tatiana Foroud, Indiana University

Brief Summary:
This is a registry of individuals affected by Spinal Muscular Atrophy (SMA) and/or family members of individuals affected by SMA. The purpose of the registry is to allow researchers studying the biological basis of SMA and potential therapies in SMA access to individuals interested in participating in research and/or experimental therapies. The International SMA Patient Registry is supported by CureSMA.

Condition or disease
Muscular Atrophy, Spinal

Detailed Description:

This project is supported by CureSMA (

The Registry functions as a liaison between patients and families interested in participating in research and researchers interested in studying SMA. The Registry contains information from 2,500 families and over 3,000 individuals with SMA from all over the world and continues to grow.

The Registry has helped recruit participants for clinical trials and has provided data for important SMA research studies. The Registry helps centralize information on this rare genetic disease, provides families a way to learn about research studies and provides researchers a way to find research participants.

Individuals and families affected by SMA are invited to join the Registry. Participants are asked to complete questionnaires about the symptoms, treatment, medications, and other experiences with SMA. Visit the Participant Portal for more information on how to sign up for the Registry.

Participant information is stored in a secure database. Researchers who are interested in studying SMA can request two types of data from the Registry, de-identified information and identifiable information. De-identified information does not contain any names or personal identifiers, and can be given to researchers without having to contact Registry families. Identifiable information includes information that can identify you and will never be released without getting your written permission to do so. Identifiable information includes data such as names and dates of birth. Some researchers may also request contact with families to obtain specific information or to request participation in a research study. In these instances, the Registry will contact each potential participant to ask if they are willing to share their identifiable information for a research project.

The Registry recognizes the importance of global collaboration. Working together with researchers from all over the world is very important in the investigation of SMA. In 2008 the Registry joined the group, Translational Research in Europe for the Assessment and Treatment of Neuromuscular Diseases (TREAT-NMD) in a global collaboration to further the research goals of the neuromuscular disease community. TREAT-NMD has developed a global database that compiles deidentified data transferred from participating registries around the world. The main objective of the TREAT-NMD database is to assess the feasibility of clinical trials, to facilitate the planning of clinical trials and to support the enrollment of patients in clinical trials. This international database will also be used to answer questions regarding the prevalence of particular neuromuscular disorders and assessing the support of other activities such as assessing standards of care and diagnosis.

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Study Type : Observational [Patient Registry]
Actual Enrollment : 3000 participants
Observational Model: Family-Based
Time Perspective: Other
Target Follow-Up Duration: 50 Years
Official Title: International Spinal Muscular Atrophy Patient Registry
Study Start Date : May 1986
Actual Primary Completion Date : January 2018
Actual Study Completion Date : January 2018

Primary Outcome Measures :
  1. Study is a patient registry [ Time Frame: unlimited ]

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.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals or family members of individuals who have been diagnosed with SMA.

Inclusion Criteria:

  • Individuals or family members of individuals who have been diagnosed with SMA.

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): NCT00466349

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United States, Indiana
Indiana University School of Medicine
Indianapolis, Indiana, United States, 46202
Sponsors and Collaborators
Indiana University School of Medicine
Cure SMA
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Principal Investigator: Tatiana Foroud, PhD Indiana University School of Medicine

Additional Information:
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Responsible Party: Tatiana Foroud, Department Chair, Indiana University Identifier: NCT00466349    
Other Study ID Numbers: 0202-03
First Posted: April 27, 2007    Key Record Dates
Last Update Posted: August 7, 2018
Last Verified: August 2018
Keywords provided by Tatiana Foroud, Indiana University:
SMA Type I
Werdnig-Hoffman Disease
Spinal Muscular Atrophy
Additional relevant MeSH terms:
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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