Spinal Muscular AtrophyNCT04228718
The Burden of Primary Caregivers of Spinal Muscular Atrophy Patients and Their Needs
An observational study of Spinal Muscular Atrophy and Caregiver Burden, run by Marmara University at 1 site in Turkey (Türkiye).
Trial summary
The purpose of this study is to assess carer burden, needs, and expectations of Spinal Muscular Atrophy Parents Read more about this study
- Who is it for?
- Ages 1 day to 18 years
- Conditions the study is for
- Spinal Muscular Atrophy, Caregiver Burden
- What is being tested?
- Zarit Burden Interview Scale, Family Needs Survey (FNS) and Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)
- Type of treatment
- Lifestyle or therapy programme
- How many people
- 34 participants
- Where
- 1 siteTurkey (Türkiye)
- Study dates
- 1 Jul 2019to 1 May 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 day to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Patients with SMA type 1, type 2 or type 3 between the ages of 0-18 and their caregivers.
Who may be able to join
- Patients with spinal muscular atrophy at between the ages of 0-18
- Agree to participate in the study
Who cannot join
- 1-Refuse to participate in the study
Trial locations and contacts
1 site in 1 country.
Turkey (Türkiye)1 site
Marmara University School of Medicine Department of Physical Medicine and Rehabilitation
Istanbul, 34890
About this study
The purpose of this study is to assess carer burden, needs, and expectations of Spinal Muscular Atrophy Parents
Read the detailed description
Spinal muscular atrophy (SMA) is a group of neuromuscular diseases involving the spinal cord anterior horn cells and brain stem motor nuclei. It is followed by programmed cell death. It progresses with symmetrical weakness and atrophy of voluntary muscles throughout the body. It leads to a decrease in mobility with progressive loss of power, and pulmonary function impairment with the involvement of the respiratory muscles.
Families who are confronted with these problems that arise after the birth of the baby or shortly after birth have a serious adaptation problem. When the course of the disease and its incurability are explained, patients and their families are under severe stress. Physical and emotional health is worse than normal healthy growing children's parents.
They need information, psychological and social support. The role of the family is very important in the life of children with disabilities. Family-oriented care; has been developed to facilitate the care process of children with special needs and to help their families. The main characteristics of the family-oriented approach are that families know their children in the best way, that each family is unique and different, and that family and community support is provided for the child's functionality. The assessment of family function helps the planning and management of treatment according to the concerns of the family. The education of the family, the socio-cultural structure and the psychological approach of the parents play an important role in the development of the child with SMA.
The aim of this study was to evaluate the care burden, needs and expectations of SMA parents and to reveal the problems clearly; so that this information can be used in rehabilitation planning and interpretation of results.
- Conditions
- Spinal Muscular Atrophy, Caregiver Burden
- Being tested
- Zarit Burden Interview Scale, Family Needs Survey (FNS), Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND), Hammersmith Functional Motor Scale Expanded (HMFSE)
- Keywords
- Spinal Muscular Atrophy, Caregiver Burden, Disabled persons, Caregivers
- Medical subject headings
- Muscular Atrophy, Spinal, Caregiver Burden
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Zarit Burden Interview ScaleBehavioural
It is a questionnaire consisting of 22 items. A minimum score of 0 and a maximum score of 88 can be obtained. The higher the scale score, the higher the difficulty experienced.
Family Needs Survey (FNS)Behavioural
It is a questionnaire consisting of 35 items prepared to determine the requirements. In the FNS survey; The points given to the items can be directly collected and the amount of family needs can be determined over the total score. The lowest score that can be obtained from FNS is 29 and the highest score is 87. As the scores obtained from the scale and subscales increase, it can be said that the families' level of necessity increases.
Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)Other
CHOP-INTEND uses a scale of 0-64 points. Higher scores indicate better motor function. It is used to reliably measure natural motor function decline in infants with SMA Type 1.
Hammersmith Functional Motor Scale Expanded (HMFSE)Other
It is an extended version of the 20-item HFMS. Based on another scale known as GMFM, 13 items were added and expanded HFMS to include these elements. Therefore, HFMSE is a scale used to evaluate motor functions in types 2 and 3 SMA. It contains 33 items with a total score of 66 on a scale of 0, 1, 2.
What is being measured
The primary outcome is the main question the study is designed to answer.
Zarit Burden Interview Scale
It is a questionnaire consisting of 22 items. A minimum score of 0 and a maximum score of 88 can be obtained. The higher the scale score, the higher the difficulty experienced.
Measured: Day 0
Family Needs Survey (FNS)
It is a questionnaire consisting of 35 items prepared to determine the requirements. In the FNS survey; The points given to the items can be directly collected and the amount of family needs can be determined over the total score. The lowest score that can be obtained from FNS is 29 and the highest score is 87. As the scores obtained from the scale and subscales increase, it can be said that the families' level of necessity increases.
Measured: Day 0
Secondary outcomes (2)
Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)
CHOP-INTEND uses a scale of 0-64 points. Higher scores indicate better motor function. It is used to reliably measure natural motor function decline in infants with SMA Type 1.
Measured: Day 0
Hammersmith Functional Motor Scale Expanded (HMFSE)
It is an extended version of the 20-item HFMS. Based on another scale known as Gross Motor Function Measure, 13 items were added and expanded HFMS to include these elements. Therefore, HFMSE is a scale used to evaluate motor functions in types 2 and 3 SMA. It contains 33 items with a total score of 66 on a scale of 0, 1, 2.
Measured: Day 0
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Jan 2020
- Study start1 Jul 2019
- Primary completion28 Feb 2020
- Study completion1 May 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (6)Papers the sponsor has linked to this study.
- Other trials for Spinal Muscular AtrophyStudies of the same condition, open and under way.
- More trials run by Marmara UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 34 participants (actual)
Sponsor and investigators
- Lead sponsor
- Marmara University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Naime Evrim Karadag Saygi, Prof, Study director, Department of PM&R, Marmara University School of MedicineAyca Evkaya, Res. Asst., Principal investigator, Department of Physiotherapy and Rehabilitation, Maltepe University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04228718
- Sponsor's protocol ID
- 09.2019.728
- Status last verified
- Jan 2020
- First submitted
- 12 Jan 2020
- Last updated
- 14 May 2020
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Flunt D, Andreadis N, Menadue C, Welsh AW. Clinical commentary: obstetric and respiratory management of pregnancy with severe spinal muscular atrophy. Obstet Gynecol Int. 2009;2009:942301. doi: 10.1155/2009/942301. Epub 2009 May 19.
PubMed 19960049Pearn J. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet. 1978 Dec;15(6):409-13. doi: 10.1136/jmg.15.6.409.
PubMed 745211Strober JB, Tennekoon GI. Progressive spinal muscular atrophies. J Child Neurol. 1999 Nov;14(11):691-5. doi: 10.1177/088307389901401101.
PubMed 10593543Wirth B, Brichta L, Schrank B, Lochmuller H, Blick S, Baasner A, Heller R. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet. 2006 May;119(4):422-8. doi: 10.1007/s00439-006-0156-7. Epub 2006 Mar 1.
PubMed 16508748Ho HM, Tseng YH, Hsin YM, Chou FH, Lin WT. Living with illness and self-transcendence: the lived experience of patients with spinal muscular atrophy. J Adv Nurs. 2016 Nov;72(11):2695-2705. doi: 10.1111/jan.13042. Epub 2016 Jun 30.
PubMed 27293032Finkel RS, McDermott MP, Kaufmann P, Darras BT, Chung WK, Sproule DM, Kang PB, Foley AR, Yang ML, Martens WB, Oskoui M, Glanzman AM, Flickinger J, Montes J, Dunaway S, O'Hagen J, Quigley J, Riley S, Benton M, Ryan PA, Montgomery M, Marra J, Gooch C, De Vivo DC. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology. 2014 Aug 26;83(9):810-7. doi: 10.1212/WNL.0000000000000741. Epub 2014 Jul 30.
PubMed 25080519
Study at a glance
From the registry record, last updated by the sponsor on 14 May 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Burden of Primary Caregivers of Spinal Muscular Atrophy Patients and Their Needs
- ClinicalTrials.gov ID
- NCT04228718
- Acronym / sponsor ID
- 09.2019.728
- Conditions
- Spinal Muscular Atrophy, Caregiver Burden
- Keywords
- Spinal Muscular Atrophy, Caregiver Burden, Disabled persons, Caregivers
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 34 participants (actual)
- Lead sponsor
- Marmara UniversityUniversity, hospital or other
- Study start
- 1 Jul 2019 (actual)
- Primary completion
- 28 Feb 2020 (actual)
- Study completion
- 1 May 2020 (actual)
- First posted
- 14 Jan 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The purpose of this study is to assess carer burden, needs, and expectations of Spinal Muscular Atrophy Parents
Detailed description
Spinal muscular atrophy (SMA) is a group of neuromuscular diseases involving the spinal cord anterior horn cells and brain stem motor nuclei. It is followed by programmed cell death. It progresses with symmetrical weakness and atrophy of voluntary muscles throughout the body. It leads to a decrease in mobility with progressive loss of power, and pulmonary function impairment with the involvement of the respiratory muscles.
Families who are confronted with these problems that arise after the birth of the baby or shortly after birth have a serious adaptation problem. When the course of the disease and its incurability are explained, patients and their families are under severe stress. Physical and emotional health is worse than normal healthy growing children's parents.
They need information, psychological and social support. The role of the family is very important in the life of children with disabilities. Family-oriented care; has been developed to facilitate the care process of children with special needs and to help their families. The main characteristics of the family-oriented approach are that families know their children in the best way, that each family is unique and different, and that family and community support is provided for the child's functionality. The assessment of family function helps the planning and management of treatment according to the concerns of the family. The education of the family, the socio-cultural structure and the psychological approach of the parents play an important role in the development of the child with SMA.
The aim of this study was to evaluate the care burden, needs and expectations of SMA parents and to reveal the problems clearly; so that this information can be used in rehabilitation planning and interpretation of results.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 1 day to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Patients with SMA type 1, type 2 or type 3 between the ages of 0-18 and their caregivers.
Key inclusion criteria (2 listed)
- Patients with spinal muscular atrophy at between the ages of 0-18
- Agree to participate in the study
Key exclusion criteria (1 listed)
- 1-Refuse to participate in the study
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Zarit Burden Interview ScaleIt is a questionnaire consisting of 22 items. A minimum score of 0 and a maximum score of 88 can be obtained. The higher the scale score, the higher the difficulty experienced. | Behavioural | – |
| Family Needs Survey (FNS)It is a questionnaire consisting of 35 items prepared to determine the requirements. In the FNS survey; The points given to the items can be directly collected and the amount of family needs can be determined over the total score. The lowest score that can be obtained from FNS is 29 and the highest score is 87. As the scores obtained from the scale and subscales increase, it can be said that the families' level of necessity increases. | Behavioural | – |
| Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)CHOP-INTEND uses a scale of 0-64 points. Higher scores indicate better motor function. It is used to reliably measure natural motor function decline in infants with SMA Type 1. | Other | – |
| Hammersmith Functional Motor Scale Expanded (HMFSE)It is an extended version of the 20-item HFMS. Based on another scale known as GMFM, 13 items were added and expanded HFMS to include these elements. Therefore, HFMSE is a scale used to evaluate motor functions in types 2 and 3 SMA. It contains 33 items with a total score of 66 on a scale of 0, 1, 2. | Other | – |
Primary outcome
Zarit Burden Interview Scale
Time frame: Day 0
It is a questionnaire consisting of 22 items. A minimum score of 0 and a maximum score of 88 can be obtained. The higher the scale score, the higher the difficulty experienced.
Family Needs Survey (FNS)
Time frame: Day 0
It is a questionnaire consisting of 35 items prepared to determine the requirements. In the FNS survey; The points given to the items can be directly collected and the amount of family needs can be determined over the total score. The lowest score that can be obtained from FNS is 29 and the highest score is 87. As the scores obtained from the scale and subscales increase, it can be said that the families' level of necessity increases.
2 secondary outcomes
Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)
Time frame: Day 0
Hammersmith Functional Motor Scale Expanded (HMFSE)
Time frame: Day 0
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 May 2020.
- Background: PubMed 19960049Flunt D, Andreadis N, Menadue C, Welsh AW. Clinical commentary: obstetric and respiratory management of pregnancy with severe spinal muscular atrophy. Obstet Gynecol Int. 2009;2009:942301. doi: 10.1155/2009/942301. Epub 2009 May 19.
- Background: PubMed 745211Pearn J. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet. 1978 Dec;15(6):409-13. doi: 10.1136/jmg.15.6.409.
- Background: PubMed 10593543Strober JB, Tennekoon GI. Progressive spinal muscular atrophies. J Child Neurol. 1999 Nov;14(11):691-5. doi: 10.1177/088307389901401101.
- Background: PubMed 16508748Wirth B, Brichta L, Schrank B, Lochmuller H, Blick S, Baasner A, Heller R. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet. 2006 May;119(4):422-8. doi: 10.1007/s00439-006-0156-7. Epub 2006 Mar 1.
- Background: PubMed 27293032Ho HM, Tseng YH, Hsin YM, Chou FH, Lin WT. Living with illness and self-transcendence: the lived experience of patients with spinal muscular atrophy. J Adv Nurs. 2016 Nov;72(11):2695-2705. doi: 10.1111/jan.13042. Epub 2016 Jun 30.
- Background: PubMed 25080519Finkel RS, McDermott MP, Kaufmann P, Darras BT, Chung WK, Sproule DM, Kang PB, Foley AR, Yang ML, Martens WB, Oskoui M, Glanzman AM, Flickinger J, Montes J, Dunaway S, O'Hagen J, Quigley J, Riley S, Benton M, Ryan PA, Montgomery M, Marra J, Gooch C, De Vivo DC. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology. 2014 Aug 26;83(9):810-7. doi: 10.1212/WNL.0000000000000741. Epub 2014 Jul 30.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Naime Evrim Karadag Saygi, Prof study director
Department of PM&R, Marmara University School of Medicine
Ayca Evkaya, Res. Asst. principal investigator
Department of Physiotherapy and Rehabilitation, Maltepe University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Spinal Muscular Atrophy and Caregiver Burden, run by Marmara University at 1 site in Turkey (Türkiye).
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 14 May 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Turkey (Türkiye). Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Zarit Burden Interview Scale (time frame: Day 0). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04228718, which also lists 6 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 May 2020.