Public AttitudesTowards SMA and DMD Awareness, Newborn and Carrier Screening and Physiotherapy Practices

November 8, 2021 updated by: Mislina Açoğlu, Bahçeşehir University

Public Awareness Level of SMA and DMD Muscle Disorders in Turkey, Attitudes Toward Screening of Newborn and Carrier and Physiotherapy Practice

The addition of SMA and DMD muscle diseases to newborn screening and premarital carrier screening has been controversial.

In this study, researchers aim to measure the awareness level of SMA and DMD muscle diseases of individuals living in Turkey and to obtain information about their attitudes towards newborn and carrier screening and physiotherapy practices.

Thus, this study aimed to determine the factors that affect people's views on this subject.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Not yet recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

Detailed Description

Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by a mutation in survival motor neuron 1 (SMN1), characterized by progressive weakness and muscle atrophy. With an incidence of 1 in 10,000 and a carrier frequency of 1 in 50, SMA is one of the most common recessive genetic diseases. SMA muscle disease, which has a broad phenotype, is classified according to the age of onset of symptoms and motor milestones achieved. Type 1 SMA is the most common type that starts before 6 months. These babies, who never gain the ability to sit independently, have a severe weakness. It is also one of the most common genetic causes of death in children. Type 2 SMA occurs before 18 months. With milder weakness, these infants can sit but never walk independently. Type 3 SMA patients can ambulate. Type 4 SMA occurs with milder weakness in adults. Providing supportive treatment by a multidisciplinary team is essential for prolonging life and more comfortable life by reducing the severity of symptoms, especially in the most severe SMA cases. However, this is not enough to change the poor prognosis. FDA-approved drugs improve survival and motor function, allowing some SMA patients to reach motor milestones they've never reached before. The positive results of medical and physical treatments are most striking before the onset of the symptoms of weakness in infants.

Duchenne muscular dystrophy (DMD) is an X-linked recessive inherited disorder. Mutations in the dystrophin protein cause this progressive muscle disease, which affects one in 5000 male newborns in the world. However, developmentally delayed motor milestones, muscle weakness seen around 2-3 years of age, toe walking, frequent falls, calf hypertrophy, and Gowers Sign are warning signs for diagnosis. The time from the concern of the families to the certain diagnosis of the DMD is approximately 2 years. This delay in diagnosis can be devastating for the family and the patient, as muscle function declines during this time. Although DMD predominantly affects men, a small number of female carriers may present with a variety of symptoms. For this reason, genetic testing is recommended to find out the carrier status of female relatives of patients with DMD. A proactive approach and multidisciplinary teamwork are required in the care of DMD patients. Early diagnosis and timely access to treatment are promising for children with DMD.

In the light of all this information, the authors emphasize the importance of early newborn diagnosis and genetic carrier screening for these two serious muscle diseases. This study was designed to understand the general awareness of society on these devastating diseases. Furthermore, the attitude of people towards the newborn and genetic carrier screening, and the physiotherapy approach as a treatment method will be questioned during the study. A questionnaire was prepared to obtain information about the issues mentioned above, and it is not include any kind of scale. This questionnaire also includes the demographical questions to compare the attitudes and awareness between the different professions, ages and educational levels.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Anticipated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
200

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Contact Backup

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

18 years to 50 years (Adult)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Individuals from different regions of Turkey who meet inclusion criteria

Description

Inclusion Criteria:

  • All man and women 18-50 years old
  • Volunteering to participate in the study
  • Live in Turkey
  • Being able to read and understand survey questions

Exclusion Criteria:

  • Refusal to participate
  • Cognitive impairment preventing understanding of the questionnaire and self-reporting

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
Individuals living in Turkey
Individuals from different regions of Turkey who meet inclusion criteria
Other: Questionnaire
A questionnaire prepared by the researchers will be presented to the group.

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Awareness level of community on the SMA and DMD diseases.
Time Frame: Day 1.
Questionnaire
Day 1.
Attitudes of community towards SMA/DMD newborn screening and carrier screening.
Time Frame: Day 1.
Questionnaire
Day 1.
Public opinion towards the effectiveness of physiotherapy and rehabilitation on DMD/SMA.
Time Frame: Day 1.
Questionnaire
Day 1.

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Bahçeşehir University

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Anticipated)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
November 1, 2021

Primary Completion (Anticipated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
January 1, 2022

Study Completion (Anticipated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
January 1, 2022

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
October 8, 2021

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
October 27, 2021

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
November 8, 2021

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
November 10, 2021

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
November 8, 2021

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
November 1, 2021

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • MSLN1602610

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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