Lesch-Nyhan SyndromeNCT05548751
Physiotherapy Assessment Based on the ICF Model in The Lesch-Nyhan Syndrome: Case Report
An observational study of Lesch-Nyhan Syndrome, run by Uskudar University at 1 site in Turkey (Türkiye).
Trial summary
Lesch-Nyhan Syndrome (LNS) is a genetic disorder that results in a deficit in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme, which affects purine metabolism. It is a genetic disorder that is carried by an X-linked recessive gene. LNS has 3 typical symptoms. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Lesch-Nyhan Syndrome
- How many people
- 1 participants
- Where
- 1 siteTurkey (Türkiye)
- Study dates
- 26 Sep 2022to 30 Sep 2022
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: A case who had the Lesch-Nyhan Syndrome
Who may be able to join
- Having lesch-nyhan syndrome
Who cannot join
- -
Trial locations and contacts
1 site in 1 country.
Turkey (Türkiye)1 site, 1 recruiting
- Recruiting
Üsküdar Üniversity
Istanbul, 34768
tuba kolaylı, lecturer, 05413698977, tubakolayli@gmail.com
About this study
Lesch-Nyhan Syndrome (LNS) is a genetic disorder that results in a deficit in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme, which affects purine metabolism. It is a genetic disorder that is carried by an X-linked recessive gene.
LNS has 3 typical symptoms. These are increased uric acid, neurological symptoms and behavioral disorders. Dystonia is often seen among its neurological manifestations. Signs of primidal and extraprimidal system can be seen.
It is very important to create the syndrome-specific physiotherapy program. In order to achieve this, evaluations based on the International Classification of Functioning, Disability and Health (ICF) model are valuable in terms of showing the right way in the management of the disease.
Read the detailed description
Lesch-Nyhan Syndrome (LNS) is a genetic disorder that results in a deficit in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme, which affects purine metabolism. It was described by Lesch and Nyhan in 1960. It is a genetic disorder that is carried by an X-linked recessive gene and is therefore predominantly seen in males.
LNS has 3 typical symptoms. These are increased uric acid, neurological symptoms and behavioral disorders. Self-harming behavior begins to appear from the age of 2. Dystonia is often seen among its neurological manifestations. Signs of primidal and extraprimidal system can be seen.
As developments in treatment methods continue in individuals with LNS, the expected life expectancy of these individuals is prolonged. However, these individuals require physiotherapy for symptoms specific to LNS.
Because of the developmental delay seen in babies with LNS, these babies may be diagnosed with cerebral palsy. It is very important to create the syndrome-specific physiotherapy program. In order to achieve this, evaluations based on the International Classification of Functioning, Disability and Health (ICF) model are valuable in terms of showing the right way in the management of the disease.
- Conditions
- Lesch-Nyhan Syndrome
- Keywords
- case report, lesch-nyhan syndrome, genetic disorders
- Medical subject headings
- Lesch-Nyhan Syndrome, Genetic Diseases, Inborn
What is being measured
The primary outcome is the main question the study is designed to answer.
Demographic information form
This form was prepared by the researchers to obtain the demographic data of the case in the study.
Measured: 20 munites
Gross Motor Function Measure (GMFM)
The Gross Motor Function Measure (GMFM) is an observational clinical tool designed to evaluate change in gross motor function in children with cerebral palsy, Down Syndrome and acquired brain damage.
Measured: 45 minutes
Gross Motor Function Classification System (GMFCS)
Gross Motor Function Classification System developed in 1997[1] to classify and describe the abilities of children and youth with cerebral palsy. Generally, the higher the level the poorer the functional ability of the child.
Measured: 10 munites
Modified Ashworth Scale
Modified Ashworth Scale (MAS) is used to assess spasticity. Modified Ashworth Scale (MAS) have been utilized in the following populations: stroke, spinal cord injury, cerebral palsy, traumatic brain injury, pediatric hypertonia and central nervous system lesions.
Measured: 10 minutes
Functional Independence Measure (WeeFIM)
The WeeFIM II® System, a pediatric version of the Functional Independence Measure™ (FIM) System, documents and tracks functional performance in children and adolescents with acquired or congenital disabilities by measuring a child's need for assistance, in addition to the severity of disability.
Measured: 10 minutes
The Pediatric Quality of Life Inventory (PedsQL)
The Pediatric Quality of Life Inventory (PedsQL) is a valid, practical, brief, standardized, generic, and self-reporting assessment tool to measure health-related quality of life HRQOL for pediatrics and adolescents, it can be carried by patients himself and their parents.The PedsQL 4.0 Generic Core Scales instrument is the last version of PedsQL contain 23-items, including formats for typically developing children and adolescents 2 to 18 years old.
Measured: 20 minutes
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Sep 2022
- Study start26 Sep 2022 (estimated)
- Primary completion30 Sep 2022 (estimated)
- Study completion30 Sep 2022 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Lesch-Nyhan SyndromeStudies 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
- Observational
- Observational model
- Case only
- Time perspective
- Other
- Enrolment
- 1 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Uskudar University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, tuba kolaylı, Uskudar University
- Investigators
- tuba kolaylı, MSc., Principal investigator, Uskudar University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05548751
- Sponsor's protocol ID
- UskudarU.
- Status last verified
- Sep 2022
- First submitted
- 16 Sep 2022
- Last updated
- 21 Sep 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 21 Sep 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Physiotherapy Assessment Based on the ICF Model in The Lesch-Nyhan Syndrome: Case Report
- ClinicalTrials.gov ID
- NCT05548751
- Acronym / sponsor ID
- UskudarU.
- Conditions
- Lesch-Nyhan Syndrome
- Keywords
- case report, lesch-nyhan syndrome, genetic disorders
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 1 participants (estimated)
- Lead sponsor
- Uskudar UniversityUniversity, hospital or other
- Study start
- 26 Sep 2022 (estimated)
- Primary completion
- 30 Sep 2022 (estimated)
- Study completion
- 30 Sep 2022 (estimated)
- First posted
- 21 Sep 2022 (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.
Lesch-Nyhan Syndrome (LNS) is a genetic disorder that results in a deficit in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme, which affects purine metabolism. It is a genetic disorder that is carried by an X-linked recessive gene.
LNS has 3 typical symptoms. These are increased uric acid, neurological symptoms and behavioral disorders. Dystonia is often seen among its neurological manifestations. Signs of primidal and extraprimidal system can be seen.
It is very important to create the syndrome-specific physiotherapy program. In order to achieve this, evaluations based on the International Classification of Functioning, Disability and Health (ICF) model are valuable in terms of showing the right way in the management of the disease.
Detailed description
Lesch-Nyhan Syndrome (LNS) is a genetic disorder that results in a deficit in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme, which affects purine metabolism. It was described by Lesch and Nyhan in 1960. It is a genetic disorder that is carried by an X-linked recessive gene and is therefore predominantly seen in males.
LNS has 3 typical symptoms. These are increased uric acid, neurological symptoms and behavioral disorders. Self-harming behavior begins to appear from the age of 2. Dystonia is often seen among its neurological manifestations. Signs of primidal and extraprimidal system can be seen.
As developments in treatment methods continue in individuals with LNS, the expected life expectancy of these individuals is prolonged. However, these individuals require physiotherapy for symptoms specific to LNS.
Because of the developmental delay seen in babies with LNS, these babies may be diagnosed with cerebral palsy. It is very important to create the syndrome-specific physiotherapy program. In order to achieve this, evaluations based on the International Classification of Functioning, Disability and Health (ICF) model are valuable in terms of showing the right way in the management of the disease.
Study design
- Observational model
- Case only
- Time perspective
- Other
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- A case who had the Lesch-Nyhan Syndrome
Key inclusion criteria (1 listed)
- Having lesch-nyhan syndrome
Key exclusion criteria (1 listed)
- -
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Demographic information form
Time frame: 20 munites
This form was prepared by the researchers to obtain the demographic data of the case in the study.
Gross Motor Function Measure (GMFM)
Time frame: 45 minutes
The Gross Motor Function Measure (GMFM) is an observational clinical tool designed to evaluate change in gross motor function in children with cerebral palsy, Down Syndrome and acquired brain damage.
Gross Motor Function Classification System (GMFCS)
Time frame: 10 munites
Gross Motor Function Classification System developed in 1997[1] to classify and describe the abilities of children and youth with cerebral palsy. Generally, the higher the level the poorer the functional ability of the child.
Modified Ashworth Scale
Time frame: 10 minutes
Modified Ashworth Scale (MAS) is used to assess spasticity. Modified Ashworth Scale (MAS) have been utilized in the following populations: stroke, spinal cord injury, cerebral palsy, traumatic brain injury, pediatric hypertonia and central nervous system lesions.
Functional Independence Measure (WeeFIM)
Time frame: 10 minutes
The WeeFIM II® System, a pediatric version of the Functional Independence Measure™ (FIM) System, documents and tracks functional performance in children and adolescents with acquired or congenital disabilities by measuring a child's need for assistance, in addition to the severity of disability.
The Pediatric Quality of Life Inventory (PedsQL)
Time frame: 20 minutes
The Pediatric Quality of Life Inventory (PedsQL) is a valid, practical, brief, standardized, generic, and self-reporting assessment tool to measure health-related quality of life HRQOL for pediatrics and adolescents, it can be carried by patients himself and their parents.The PedsQL 4.0 Generic Core Scales instrument is the last version of PedsQL contain 23-items, including formats for typically developing children and adolescents 2 to 18 years old.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Sep 2022.
- 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.
tuba kolaylı, MSc. principal investigator
Uskudar 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 Lesch-Nyhan Syndrome, run by Uskudar 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 1 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: status not confirmed, as of the sponsor's last update on 21 Sep 2022. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact tuba kolaylı, MSc. (+905413698977, tubakolayli@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Demographic information form (time frame: 20 munites). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 21 Sep 2022; AzTrials last refreshed its copy on 29 Oct 2026.