Motor Function and Activity of Daily Life in Spinal Muscular Atrophy

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ClinicalTrials.gov Identifier: NCT05931211

Recruitment Status : Not yet recruiting

First Posted : July 5, 2023

Last Update Posted : July 7, 2023

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Sponsor:

Information provided by (Responsible Party):

National Taiwan University Hospital

Study Description

Brief Summary:

This study will incorporate patients/ caregivers' perspectives to investigate the performance in daily activities of individuals with SMA and how it relates to their motor function abilities.

Condition or disease
Spinal Muscular Atrophy

Detailed Description:

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease that causes progressive muscle weakness and atrophy and eventually leads to loss of function. Despite recent advances in disease-modifying treatments, SMA can still significantly impact an individual's functioning in daily living and quality of life. This study will incorporate patients/ caregivers' perspectives to investigate the performance in daily activities of individuals with SMA and how it relates to their motor function abilities.

Study Design

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Study Type :	Observational
Estimated Enrollment :	100 participants
Observational Model:	Cohort
Time Perspective:	Cross-Sectional
Official Title:	Translation of Motor Function to Daily Activity Performance in Individuals With SMA
Estimated Study Start Date :	June 30, 2023
Estimated Primary Completion Date :	June 30, 2024
Estimated Study Completion Date :	December 31, 2024

Resource links provided by the National Library of Medicine

MedlinePlus Genetics related topics: Spinal muscular atrophy

MedlinePlus related topics: Spinal Muscular Atrophy

Genetic and Rare Diseases Information Center resources: Spinal Muscular Atrophy Amyotrophic Lateral Sclerosis

U.S. FDA Resources

Groups and Cohorts

Outcome Measures

Primary Outcome Measures :

Revised Upper Limb Module [ Time Frame: 15-20 minutes ]
The physiotherapist will perform a serious of motor test to evaluate the patient's upper limb motor function. This test is to observe the manual ability on different tasks in sitting position, including drawing along the path, opening Ziploc container, or lifting weight. And the therapist will score for each item. The Revised Upper Limb Module (RULM) are consist of 19 items. It takes about 15-20 minutes for testing.

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:	3 Years and older (Child, Adult, Older Adult)
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No
Sampling Method:	Probability Sample

Study Population

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease that causes progressive muscle weakness and atrophy and eventually leads to loss of function.

Criteria

Inclusion Criteria:

Having a diagnosis of SMA with genetics confirmed as 5q SMA.
Above 3 years of age (capable of performing motor assessments).

Exclusion Criteria:

Having severe respiratory and other medical conditions precluding safe participation in standardized motor function tests.
Having any orthopedic surgery during the past 6 months.
Women who are pregnant.

Contacts and Locations

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 ClinicalTrials.gov identifier (NCT number): NCT05931211

Contacts

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Contact: Hsi-Wen Huang, MSc	886-2-23123456 ext 270409	lovelyeva39@gmail.com
Contact: Fang-Yi Huang, MSc	886-2-23123456 ext 270409	eyy13579@hotmail.com

Locations

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Taiwan
National Taiwan University Hospital
Taipei, Taiwan, 100
Contact: Hsi-Wen Huang, MSc 886-2-23123456 ext 270409 lovelyeva39@gmail.com

Sponsors and Collaborators

National Taiwan University Hospital

Investigators

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Principal Investigator:	Hsi-Wen Huang, MSc	National Taiwan University Hospital

More Information

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Responsible Party:	National Taiwan University Hospital
ClinicalTrials.gov Identifier:	NCT05931211
Other Study ID Numbers:	202305039RINB
First Posted:	July 5, 2023 Key Record Dates
Last Update Posted:	July 7, 2023
Last Verified:	May 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD:	No

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Studies a U.S. FDA-regulated Drug Product:	No
Studies a U.S. FDA-regulated Device Product:	No

Additional relevant MeSH terms:

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Muscular Atrophy Muscular Atrophy, Spinal Atrophy Pathological Conditions, Anatomical Neuromuscular Manifestations Neurologic Manifestations	Nervous System Diseases Spinal Cord Diseases Central Nervous System Diseases Motor Neuron Disease Neurodegenerative Diseases Neuromuscular Diseases

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