Rare Genetic DisordersNCT07348926
The Relationship Between Functional Independence and Family Well-being in Children With Rare Genetic Disorders
An observational study of Rare Genetic Disorders and Quality of Life, run by Bahçeşehir University at 1 site in Turkey (Türkiye).
Trial summary
This study aims to examine the psychological status and quality of life of families with children who have rare genetic disorders. The focus of the study is to understand how the child's level of functional independence relates to the well-being of the family. Read more about this study
- Who is it for?
- Ages 18 to 65 yearsHealthy volunteers can take part
- Conditions the study is for
- Rare Genetic Disorders, Quality of Life, Functional Impairment
- How many people
- 45 participants
- Where
- 1 siteTurkey (Türkiye)
- Study dates
- 25 Oct 2025to 15 Mar 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 18 to 65 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: The study population consists of caregivers of children aged 0-4 years who have been diagnosed with rare genetic disorders and receive physiotherapy services at a rehabilitation center in Istanbul, Turkey. Participants are primary caregivers responsible for the child's daily care and able to complete Turkish-language questionnaires. The population reflects a clinical sample receiving ongoing rehabilitation, rather than a community-based or general population sample
Who may be able to join
- Caregivers of children aged 0-4 years diagnosed with a rare genetic disorder.
- The child must have been receiving physiotherapy for at least 6 months.
- Caregivers who voluntarily agree to participate and provide informed consent.
- Caregivers who are able to read and understand Turkish to complete the questionnaires.
Who cannot join
- Caregivers who have cognitive or language limitations that prevent them from completing the questionnaires.
- Caregivers who decline participation or submit incomplete questionnaire forms.
- Children or caregivers with an additional medical or neurological condition that prevents participation in the study.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Turkey (Türkiye)1 site, 1 recruiting
- Recruiting
Bahcesehir University
Istanbul, 34053
Yağmur Erkan, PT
Tuğçe Tahmaz, PhD, +905330397791, tugcetahmaz@msn.com
About this study
Official title: Examination of Families' Psychological Status and Quality of Life According to the Functional Independence Status of Children With Rare Genetic Diseases in Early Childhood
This study aims to examine the psychological status and quality of life of families with children who have rare genetic disorders. The focus of the study is to understand how the child's level of functional independence relates to the well-being of the family. Functional independence will be assessed using standardized tools, and parental psychological status and quality of life will be evaluated with validated questionnaires.
The information gathered from this study may help improve the understanding of how rare genetic disorders affect family dynamics and daily functioning. The results may guide health care professionals in planning family-centered physiotherapy, psychological support, and care programs.
Read the detailed description
This observational, descriptive, and cross-sectional study aims to examine the associations between the functional independence levels of young children diagnosed with rare genetic disorders and various psychosocial outcomes of their caregivers, including depression, family functioning, sleep quality, and overall quality of life. Rare genetic disorders often begin in early childhood, require long-term medical follow-up and rehabilitation, and may negatively affect both the daily routines and psychosocial well-being of families. In this context, understanding family-centered physiotherapy and its role as a protective factor is crucial for strengthening family systems and supporting rehabilitation success.
The study population consists of caregivers of children aged 0-4 years with rare genetic diagnoses who are receiving physiotherapy at a rehabilitation center in Istanbul. A sample size of 45 participants was calculated based on Cohen's effect size approach, assuming a medium effect size (d = 0.5).
Functional independence of the child will be assessed using the Pediatric Functional Independence Measure (WeeFIM). Based on WeeFIM scores, parents will be categorized into two groups according to the child's functional level. Caregiver depression levels will be assessed using the Beck Depression Inventory; family functioning will be evaluated with the Family Functionality in Rehabilitation Scale; family impact will be measured with the Family Impact Scale; sleep quality will be evaluated using the Pittsburgh Sleep Quality Index; and quality of life will be assessed using the Nottingham Health Profile. Demographic information and details of physiotherapy participation will also be collected.
Data collection will begin after ethical approval and will last approximately three months. Following informed consent, all participants will complete the questionnaires in Turkish. The findings of this study are expected to provide a comprehensive understanding of the multidimensional challenges faced by families of children with rare genetic disorders and may guide the development of family-centered physiotherapy, psychosocial interventions, and supportive care programs.
- Keywords
- Rare Genetic Disorders, physical therapy, Depression, Quality of Life, Family
- Medical subject headings
- Depression
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Lower Functional Independence | Children with rare genetic disorders whose functional independence level is lower based on the Pediatric Functional Independence Measure (WeeFIM). Caregivers of these children are included in the study. | |
| Higher Functional Independence | Children with rare genetic disorders whose functional independence level is higher based on the Pediatric Functional Independence Measure (WeeFIM). Caregivers of these children are included in the study. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Functional Independence Level of the Child (WeeFIM)
The functional independence level of children with rare genetic disorders will be assessed using the Pediatric Functional Independence Measure (WeeFIM). This scale evaluates functional abilities in self-care, mobility, and cognition. Higher scores indicate greater functional independence.
Measured: At baseline (study enrollment)
Secondary outcomes (5)
Beck Depression Inventory (BDI)
Caregiver depressive symptoms will be assessed using the Beck Depression Inventory (BDI). This scale measures emotional, cognitive, and physical symptoms of depression. Higher scores indicate higher levels of depressive symptoms.eck Depression Inventory (BDI), higher scores indicate greater severity of depressive symptoms.
Measured: At baseline (study enrollment)
Family Functionality in Rehabilitation
This outcome will assess the caregiver's perceived role and functionality in the child's rehabilitation process using the Family Functionality in Rehabilitation Scale. Higher scores indicate better family functioning within the rehabilitation setting.
Measured: At baseline (study enrollment)
Family Impact (Family Impact Scale)
The Family Impact Scale will be used to evaluate how the child's rare genetic condition affects family routines, emotional well-being, and daily functioning. Higher scores indicate greater perceived impact on family life.
Measured: At baseline (study enrollment)
Sleep Quality (Pittsburgh Sleep Quality Index - PSQI)
Caregiver sleep quality will be measured using the Pittsburgh Sleep Quality Index (PSQI), which evaluates sleep duration, latency, disturbances, and overall sleep quality. Higher scores reflect poorer sleep quality.
Measured: At baseline (study enrollment)
Quality of Life (Nottingham Health Profile - NHP)
Caregiver quality of life will be assessed using the Nottingham Health Profile (NHP), which evaluates emotional, social, and physical domains of well-being. Higher scores indicate poorer quality of life.
Measured: At baseline (study enrollment)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Jan 2026
- Study start25 Oct 2025
- Primary completion25 Feb 2026 (estimated)
- Study completion15 Mar 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rare Genetic DisordersStudies 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
- Other
- Time perspective
- Prospective
- Enrolment
- 45 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Bahçeşehir University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Yağmur Erkan, Bahçeşehir University
- Investigators
- Tuğçe Tahmaz, PhD, Principal investigator, Bahçeşehir University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07348926
- Sponsor's protocol ID
- BAU-FTR-YE-01
- Status last verified
- Jan 2026
- First submitted
- 11 Dec 2025
- Last updated
- 16 Jan 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Examination of Families' Psychological Status and Quality of Life According to the Functional Independence Status of Children With Rare Genetic Diseases in Early Childhood
- ClinicalTrials.gov ID
- NCT07348926
- Acronym / sponsor ID
- BAU-FTR-YE-01
- Keywords
- Rare Genetic Disorders, physical therapy, Depression, Quality of Life, Family
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 45 participants (estimated)
- Lead sponsor
- Bahçeşehir UniversityUniversity, hospital or other
- Study start
- 25 Oct 2025 (actual)
- Primary completion
- 25 Feb 2026 (estimated)
- Study completion
- 15 Mar 2026 (estimated)
- First posted
- 16 Jan 2026 (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.
This study aims to examine the psychological status and quality of life of families with children who have rare genetic disorders. The focus of the study is to understand how the child's level of functional independence relates to the well-being of the family. Functional independence will be assessed using standardized tools, and parental psychological status and quality of life will be evaluated with validated questionnaires.
The information gathered from this study may help improve the understanding of how rare genetic disorders affect family dynamics and daily functioning. The results may guide health care professionals in planning family-centered physiotherapy, psychological support, and care programs.
Detailed description
This observational, descriptive, and cross-sectional study aims to examine the associations between the functional independence levels of young children diagnosed with rare genetic disorders and various psychosocial outcomes of their caregivers, including depression, family functioning, sleep quality, and overall quality of life. Rare genetic disorders often begin in early childhood, require long-term medical follow-up and rehabilitation, and may negatively affect both the daily routines and psychosocial well-being of families. In this context, understanding family-centered physiotherapy and its role as a protective factor is crucial for strengthening family systems and supporting rehabilitation success.
The study population consists of caregivers of children aged 0-4 years with rare genetic diagnoses who are receiving physiotherapy at a rehabilitation center in Istanbul. A sample size of 45 participants was calculated based on Cohen's effect size approach, assuming a medium effect size (d = 0.5).
Functional independence of the child will be assessed using the Pediatric Functional Independence Measure (WeeFIM). Based on WeeFIM scores, parents will be categorized into two groups according to the child's functional level. Caregiver depression levels will be assessed using the Beck Depression Inventory; family functioning will be evaluated with the Family Functionality in Rehabilitation Scale; family impact will be measured with the Family Impact Scale; sleep quality will be evaluated using the Pittsburgh Sleep Quality Index; and quality of life will be assessed using the Nottingham Health Profile. Demographic information and details of physiotherapy participation will also be collected.
Data collection will begin after ethical approval and will last approximately three months. Following informed consent, all participants will complete the questionnaires in Turkish. The findings of this study are expected to provide a comprehensive understanding of the multidimensional challenges faced by families of children with rare genetic disorders and may guide the development of family-centered physiotherapy, psychosocial interventions, and supportive care programs.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Lower Functional Independence | – | –Children with rare genetic disorders whose functional independence level is lower based on the Pediatric Functional Independence Measure (WeeFIM). Caregivers of these children are included in the study. |
| Higher Functional Independence | – | –Children with rare genetic disorders whose functional independence level is higher based on the Pediatric Functional Independence Measure (WeeFIM). Caregivers of these children are included in the study. |
Who may qualify
- Ages
- 18 to 65 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- The study population consists of caregivers of children aged 0-4 years who have been diagnosed with rare genetic disorders and receive physiotherapy services at a rehabilitation center in Istanbul, Turkey. Participants are primary caregivers responsible for the child's daily care and able to complete Turkish-language questionnaires. The population reflects a clinical sample receiving ongoing rehabilitation, rather than a community-based or general population sample
Key inclusion criteria (4 listed)
- Caregivers of children aged 0-4 years diagnosed with a rare genetic disorder.
- The child must have been receiving physiotherapy for at least 6 months.
- Caregivers who voluntarily agree to participate and provide informed consent.
- Caregivers who are able to read and understand Turkish to complete the questionnaires.
Key exclusion criteria (3 listed)
- Caregivers who have cognitive or language limitations that prevent them from completing the questionnaires.
- Caregivers who decline participation or submit incomplete questionnaire forms.
- Children or caregivers with an additional medical or neurological condition that prevents participation 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.
Primary outcome
Functional Independence Level of the Child (WeeFIM)
Time frame: At baseline (study enrollment)
The functional independence level of children with rare genetic disorders will be assessed using the Pediatric Functional Independence Measure (WeeFIM). This scale evaluates functional abilities in self-care, mobility, and cognition. Higher scores indicate greater functional independence.
5 secondary outcomes
Beck Depression Inventory (BDI)
Time frame: At baseline (study enrollment)
Family Functionality in Rehabilitation
Time frame: At baseline (study enrollment)
Family Impact (Family Impact Scale)
Time frame: At baseline (study enrollment)
Sleep Quality (Pittsburgh Sleep Quality Index - PSQI)
Time frame: At baseline (study enrollment)
Quality of Life (Nottingham Health Profile - NHP)
Time frame: At baseline (study enrollment)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Jan 2026.
- Individual participant dataSharing planned: No
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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.
Tuğçe Tahmaz, PhD principal investigator
Bahçeşehir 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 Rare Genetic Disorders and Quality of Life, run by Bahçeşehir 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 4 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: looking for participants now, as of the sponsor's last update on 16 Jan 2026. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Yağmur Erkan, PT (+90 506 940 0759, yagmurerkn@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Functional Independence Level of the Child (WeeFIM) (time frame: At baseline (study enrollment)). 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 16 Jan 2026.