MucopolysaccharidosisNCT05006222
The Effect of Enzyme Replacement Therapy in Mucopolysaccharidosis
A study testing Enzyme Replacement Agent in people with Mucopolysaccharidosis, run by Hasan Kalyoncu University at 1 site in Turkey (Türkiye).
Trial summary
Mucopolysaccharidosis (MPS) causes chronic, progressive systemic disorders due to enzyme deficiency. Musculoskeletal manifestations of MPS include bone and vertebral deformities, restricted joint function and ROM (range of motion), rib cage abnormalities, short stature and hip dysplasia as well as flexion contracture… Read more about this study
- Who is it for?
- Ages 3 to 11 years
- Conditions the study is for
- Mucopolysaccharidosis
- What is being tested?
- Enzyme Replacement Agent
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 12 participants
- Where
- 1 siteTurkey (Türkiye)
- Study dates
- 1 Feb 2020to 27 Mar 2021
- Phase
- Interventional
- 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 3 to 11 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Age must be range between 3 and 11 years
- Having diagnosis of MPS.
Who cannot join
- Patients refusing to participate in the study
- Patients without a definite diagnosis
- Patients and parents who are not cooperate with the study tests
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Effects of Enzyme Replacement Therapy on Quality of Life, Functional Independence and Aerobic Capacity in Children With Mucopolysaccharidosis
Mucopolysaccharidosis (MPS) causes chronic, progressive systemic disorders due to enzyme deficiency. Musculoskeletal manifestations of MPS include bone and vertebral deformities, restricted joint function and ROM (range of motion), rib cage abnormalities, short stature and hip dysplasia as well as flexion contracture in the knee and interphalangeal joints and joint laxity. Currently, there is no treatment that cures the symptoms of MPS. However, there are some forms of treatment that can delay the progression of the disease. Enzyme replacement therapy is one such treatment and used for the management of some subtypes of MPS disease. Enzyme replacement therapy (ERT) is based on the concept of replacing the missing enzyme in the circulation to prevent the build-up of glycosaminoglycan (GAG) in the tissues. Very few studies in the literature have examined the impact of MPS in the lives of children affected by this disease. Studies investigating functional capacity, independence and quality of life in children receiving or not receiving enzyme replacement therapy have not provided a clear picture of the problems faced by these children. Secondly, psychological problems experienced by caregivers of children with MPS have not been studied specifically in former studies. Therefore, the aim of this study was to examine the impact of ERT on aerobic capacity, functional independence and quality of life in children with MPS and to determine the anxiety and depression levels of their caregivers.
- Conditions
- Mucopolysaccharidosis
- Being tested
- Enzyme Replacement Agent
- Keywords
- Mucopolysaccharidosis, Aerobic capacity, Quality of Life, Functional independence
- Medical subject headings
- Mucopolysaccharidoses
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Enzyme Replacement AgentDrug
Enzyme replacement therapy is one such treatment and used for the management of some subtypes of MPS disease. Enzyme replacement therapy (ERT) is based on the concept of replacing the missing enzyme in the circulation to prevent the build-up of glycosaminoglycan (GAG) in the tissues
| Study group | Role | What they receive |
|---|---|---|
| ERT group | Active comparator | The participants are enrolled in this group whose get enzyme replacement therapy Receives: Drug: Enzyme Replacement Agent |
| non-ERT group | No intervention | The participants are enrolled in this group whose not get enzyme replacement therapy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Pediatric Quality of Life Inventory
The Pediatric Quality of Life Inventory (PedsQL) is a health status instrument for the assessment of health-related quality of life in children and adolescents from 2 to 18 years of age. The PedsQL can be completed by children themselves or with their parents. The tool consists of a total of 23 questions that assess physical functioning (8 questions), emotional functioning (5 questions), social functioning (5 questions), and school functioning (5 questions). Possible maximum scores range between 0 and 100 and higher scores indicate better quality of life.
Measured: 1 year
Functional Independence Measure
Functional independence of the subjects was assessed using the Functional Independence Measure for Children (WeeFIM). It is a short and validated tool to determine impairment of developmental, educational and social functioning in children with cerebral palsy and other developmental disorders. The WeeFIM is an 18-item scale that measures the performance of the child in activities of daily living including bowel and bladder control, transfers, mobility, communication, eating, grooming, bathing, upper body dressing, lower body dressing, toileting and social cognition. Each item is assigned a score between 1 and 7 points. Higher total scores indicate greater level of independence.
Measured: 1 year
Aerobic Capacity
Aerobic capacity was assessed using the 6-minute walk test (6MWT) and timed up and go (TUG) test. For the 6MWT test, the subjects were asked to walk but not run for 6 minutes on a 30-meter corridor as fast as possible. Care was taken not to change the pace. At the end of the test, total distance covered was measured.
The TUG test is a practical test that allows quick assessment of dynamic balance, gait speed and mobility. During the test, the subjects were asked to stand up from a chair without holding on to the arms of the chair, walk 3 meters, turn, return to the chair without touching anything and sit down again. Total time was recorded in seconds.
Measured: 1 year
Secondary outcomes (3)
Balance
The modified functional reach test was developed by Lynch et al. to evaluate dynamic balance of the trunk. It is a reliable and validated test to measure the distance an individual can reach forward without losing balance while sitting in a fixed position. For the test, the subjects were instructed to sit with the arm kept parallel to the wall and shoulder flexed to 90 degrees and measurement was taken from the distal end the third metacarpal.
Measured: 1 year
Depression Level
The Beck Depression Inventory (BDI) was used to determine the depression level of caregivers. The BDI was developed for measure the risk of depression, the level of depressive symptoms and changes in the severity of depression in adults. Reliability and validity of a Turkish version of the BDI were demonstrated by Hisli (1989). The BDI is a 21-item, self-rated scale and each item is scored between 1 and 3 points. Higher total scores indicate greater depression severity.
Measured: 1 year
Anxiety Level
The Beck Anxiety Inventory (BAI) was used to evaluate the anxiety level of caregivers. The BAI was developed for determine the frequency of anxiety symptoms experienced by individuals. It is a 21-item, Likert scale with scores ranging from 0 and 3 points. Higher overall scores denote greater level of anxiety. Reliability and validity of a Turkish version of the BAI were demonstrated by Ulusoy et al. (1998).
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Aug 2021
- Study start1 Feb 2020
- Primary completion20 Mar 2021
- Study completion27 Mar 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for MucopolysaccharidosisStudies of the same condition, open and under way.
- 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Supportive care
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- Double blind
- Who is masked
- Participant, Investigator
- Enrolment
- 12 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hasan Kalyoncu University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Serkan Usgu, Hasan Kalyoncu University
- Investigators
- Yavuz Yakut, Prof, Study chair, Hasan Kalyoncu University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05006222
- Sponsor's protocol ID
- 2020/117
- Status last verified
- Aug 2021
- First submitted
- 4 Aug 2021
- Last updated
- 16 Aug 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: there is no plan for sharing
Publications
Zhou J, Lin J, Leung WT, Wang L. A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and management. Intractable Rare Dis Res. 2020 Feb;9(1):1-9. doi: 10.5582/irdr.2020.01011.
PubMed 32201668Guarany NR, Schwartz IV, Guarany FC, Giugliani R. Functional capacity evaluation of patients with mucopolysaccharidosis. J Pediatr Rehabil Med. 2012;5(1):37-46. doi: 10.3233/PRM-2012-0194.
PubMed 22543891Hendriksz CJ, Berger KI, Lampe C, Kircher SG, Orchard PJ, Southall R, Long S, Sande S, Gold JI. Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues. Orphanet J Rare Dis. 2016 Aug 26;11(1):119. doi: 10.1186/s13023-016-0503-2.
PubMed 27561270Broomfield A, Davison J, Roberts J, Stewart C, Hensman P, Beesley C, Tylee K, Rust S, Schwahn B, Jameson E, Vijay S, Santra S, Sreekantam S, Ramaswami U, Chakrapani A, Raiman J, Cleary MA, Jones SA. Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England. Mol Genet Metab. 2020 Feb;129(2):98-105. doi: 10.1016/j.ymgme.2019.07.016. Epub 2019 Jul 30.
PubMed 31383595Muenzer J. Early initiation of enzyme replacement therapy for the mucopolysaccharidoses. Mol Genet Metab. 2014 Feb;111(2):63-72. doi: 10.1016/j.ymgme.2013.11.015. Epub 2013 Dec 11.
PubMed 24388732
Study at a glance
From the registry record, last updated by the sponsor on 16 Aug 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Effects of Enzyme Replacement Therapy on Quality of Life, Functional Independence and Aerobic Capacity in Children With Mucopolysaccharidosis
- ClinicalTrials.gov ID
- NCT05006222
- Acronym / sponsor ID
- 2020/117
- Conditions
- Mucopolysaccharidosis
- Keywords
- Mucopolysaccharidosis, Aerobic capacity, Quality of Life, Functional independence
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 12 participants (actual)
- Lead sponsor
- Hasan Kalyoncu UniversityUniversity, hospital or other
- Study start
- 1 Feb 2020 (actual)
- Primary completion
- 20 Mar 2021 (actual)
- Study completion
- 27 Mar 2021 (actual)
- First posted
- 16 Aug 2021 (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.
Mucopolysaccharidosis (MPS) causes chronic, progressive systemic disorders due to enzyme deficiency. Musculoskeletal manifestations of MPS include bone and vertebral deformities, restricted joint function and ROM (range of motion), rib cage abnormalities, short stature and hip dysplasia as well as flexion contracture in the knee and interphalangeal joints and joint laxity. Currently, there is no treatment that cures the symptoms of MPS. However, there are some forms of treatment that can delay the progression of the disease. Enzyme replacement therapy is one such treatment and used for the management of some subtypes of MPS disease. Enzyme replacement therapy (ERT) is based on the concept of replacing the missing enzyme in the circulation to prevent the build-up of glycosaminoglycan (GAG) in the tissues. Very few studies in the literature have examined the impact of MPS in the lives of children affected by this disease. Studies investigating functional capacity, independence and quality of life in children receiving or not receiving enzyme replacement therapy have not provided a clear picture of the problems faced by these children. Secondly, psychological problems experienced by caregivers of children with MPS have not been studied specifically in former studies. Therefore, the aim of this study was to examine the impact of ERT on aerobic capacity, functional independence and quality of life in children with MPS and to determine the anxiety and depression levels of their caregivers.
Study design
- Primary purpose
- Supportive care
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- Double blind (participant, investigator)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| ERT group | Active comparator | Drug: Enzyme Replacement AgentThe participants are enrolled in this group whose get enzyme replacement therapy |
| non-ERT group | No intervention | –The participants are enrolled in this group whose not get enzyme replacement therapy |
Who may qualify
- Ages
- 3 to 11 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (2 listed)
- Age must be range between 3 and 11 years
- Having diagnosis of MPS.
Key exclusion criteria (3 listed)
- Patients refusing to participate in the study
- Patients without a definite diagnosis
- Patients and parents who are not cooperate with the study tests
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 |
|---|---|---|
| Enzyme Replacement AgentEnzyme replacement therapy is one such treatment and used for the management of some subtypes of MPS disease. Enzyme replacement therapy (ERT) is based on the concept of replacing the missing enzyme in the circulation to prevent the build-up of glycosaminoglycan (GAG) in the tissues | Drug | ERT group |
Primary outcome
Pediatric Quality of Life Inventory
Time frame: 1 year
The Pediatric Quality of Life Inventory (PedsQL) is a health status instrument for the assessment of health-related quality of life in children and adolescents from 2 to 18 years of age. The PedsQL can be completed by children themselves or with their parents. The tool consists of a total of 23 questions that assess physical functioning (8 questions), emotional functioning (5 questions), social functioning (5 questions), and school functioning (5 questions). Possible maximum scores range between 0 and 100 and higher scores indicate better quality of life.
Functional Independence Measure
Time frame: 1 year
Functional independence of the subjects was assessed using the Functional Independence Measure for Children (WeeFIM). It is a short and validated tool to determine impairment of developmental, educational and social functioning in children with cerebral palsy and other developmental disorders. The WeeFIM is an 18-item scale that measures the performance of the child in activities of daily living including bowel and bladder control, transfers, mobility, communication, eating, grooming, bathing, upper body dressing, lower body dressing, toileting and social cognition. Each item is assigned a score between 1 and 7 points. Higher total scores indicate greater level of independence.
Aerobic Capacity
Time frame: 1 year
Aerobic capacity was assessed using the 6-minute walk test (6MWT) and timed up and go (TUG) test. For the 6MWT test, the subjects were asked to walk but not run for 6 minutes on a 30-meter corridor as fast as possible. Care was taken not to change the pace. At the end of the test, total distance covered was measured. The TUG test is a practical test that allows quick assessment of dynamic balance, gait speed and mobility. During the test, the subjects were asked to stand up from a chair without holding on to the arms of the chair, walk 3 meters, turn, return to the chair without touching anything and sit down again. Total time was recorded in seconds.
3 secondary outcomes
Balance
Time frame: 1 year
Depression Level
Time frame: 1 year
Anxiety Level
Time frame: 1 year
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 16 Aug 2021.
- Results publication: PubMed 32201668Zhou J, Lin J, Leung WT, Wang L. A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and management. Intractable Rare Dis Res. 2020 Feb;9(1):1-9. doi: 10.5582/irdr.2020.01011.
- Results publication: PubMed 22543891Guarany NR, Schwartz IV, Guarany FC, Giugliani R. Functional capacity evaluation of patients with mucopolysaccharidosis. J Pediatr Rehabil Med. 2012;5(1):37-46. doi: 10.3233/PRM-2012-0194.
- Results publication: PubMed 27561270Hendriksz CJ, Berger KI, Lampe C, Kircher SG, Orchard PJ, Southall R, Long S, Sande S, Gold JI. Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues. Orphanet J Rare Dis. 2016 Aug 26;11(1):119. doi: 10.1186/s13023-016-0503-2.
- Results publication: PubMed 31383595Broomfield A, Davison J, Roberts J, Stewart C, Hensman P, Beesley C, Tylee K, Rust S, Schwahn B, Jameson E, Vijay S, Santra S, Sreekantam S, Ramaswami U, Chakrapani A, Raiman J, Cleary MA, Jones SA. Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England. Mol Genet Metab. 2020 Feb;129(2):98-105. doi: 10.1016/j.ymgme.2019.07.016. Epub 2019 Jul 30.
- Results publication: PubMed 24388732Muenzer J. Early initiation of enzyme replacement therapy for the mucopolysaccharidoses. Mol Genet Metab. 2014 Feb;111(2):63-72. doi: 10.1016/j.ymgme.2013.11.015. Epub 2013 Dec 11.
- Individual participant dataSharing planned: No. there is no plan for sharing
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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.
Yavuz Yakut, Prof study chair
Hasan Kalyoncu University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Enzyme Replacement Agent in people with Mucopolysaccharidosis, run by Hasan Kalyoncu 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 3 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 16 Aug 2021. 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?
Pediatric Quality of Life Inventory (time frame: 1 year). The study lists 3 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 NCT05006222, which also lists 5 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 16 Aug 2021.