CALFAN SyndromeNCT04653909
The Physiotherapy and Rehabilitation in Calfan Syndrome
A study testing Rehabilitation in people with CALFAN Syndrome, run by Hasan Kalyoncu University at 1 site in Turkey (Türkiye).
Trial summary
Calfan syndrome is a progressive neurodegenerative systemic disease. It is a rare and difficult disease to diagnose due to the complex symptoms that occur over the years to postpartum. Read more about this study
- Who is it for?
- Any age, women onlyHealthy volunteers can take part
- Conditions the study is for
- CALFAN Syndrome
- What is being tested?
- Rehabilitation
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1 participants
- Where
- 1 siteTurkey (Türkiye)
- Study dates
- 1 Mar 2020to 17 Nov 2020
- 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 Any age
- Women only
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- Calfan syndrome
Who cannot join
- Any surgery in past six months
Trial locations and contacts
1 site in 1 country.
About this study
Official title: The Effectiveness of Rehabilitation Program in an Ultra-rare Calfan Syndrome
Calfan syndrome is a progressive neurodegenerative systemic disease. It is a rare and difficult disease to diagnose due to the complex symptoms that occur over the years to postpartum. The aim of this study is to investigate the effectiveness of the physiotherapy and rehabilitation program in a rare case with Calfan syndrome.
Read the detailed description
13 years old, a female patient was diagnosed with Calfan syndrome one year ago. Only 11 patients have been identified in the literature. Its phenotype is characterized by recurrent episodes of liver failure and hepatic fibrosis in early childhood. Our patient had neurological symptoms that were gait disturbances, ataxia and tremor, as well as peripheral neuropathy and cognitive impairment. Also, musculoskeletal problems such as scoliosis, hip dysplasia, osteoporosis, thoracic kyphosis, and increased lordosis were observed.
- Conditions
- CALFAN Syndrome
- Being tested
- Rehabilitation
- Keywords
- ataxia, rehabilitation, disabilities
- Medical subject headings
- Ataxia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
RehabilitationOther
Also called Orthoses
The abdominal and back strengthening exercises on the mat, the open-closed perturbation training in sitting and standing positions for trunk control. Functional exercises were performed in the same positions for simulating daily living activities. The stretching and strengthening exercises were applied to her scoliosis and also given trunk orthoses.
| Study group | Role | What they receive |
|---|---|---|
| Case | Experimental | A patient who was diagnosed with the calfan syndrome Receives: Other: Rehabilitation |
What is being measured
The primary outcome is the main question the study is designed to answer.
Trunk Control
The Trunk Disorder Scale (TIS) was used to assess static and dynamic sitting balance and trunk coordination
Measured: 3 month
The severity of ataxia
The International Ataxia Rating Scale (ICARS) was used to determine the severity
Measured: 3 month
The quality of life
The Children's Quality of Life Scale (PedsQL) was used determine to quality of life level.
Measured: 3 month
The Functional Independence
The Functional Independence Scale for Children (WeeFIM) was used determine to independence level.
Measured: 3 month
Secondary outcomes (2)
Upper extremity functional performance
The 9-Hole Peg test was used to evaluate upper extremity performance
Measured: 3 month
Upper extremity disability level
the Quick Questionnaire for Arm, Shoulder and Hand Problems (Q-DASH) scale was used to evaluate physical disability and symptoms of upper extremity
Measured: 3 month
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Dec 2020
- Study start1 Mar 2020
- Primary completion20 Oct 2020
- Study completion17 Nov 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for CALFAN 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Case study
- Masking
- None (open label)
- Enrolment
- 1 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
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04653909
- Sponsor's protocol ID
- 2020/032
- Status last verified
- Dec 2020
- First submitted
- 26 Nov 2020
- Last updated
- 4 Dec 2020
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: The applied rehabilitation protocol.
Publications
Spagnoli C, Frattini D, Salerno GG, Fusco C. On CALFAN syndrome: report of a patient with a novel variant in SCYL1 gene and recurrent respiratory failure. Genet Med. 2019 Jul;21(7):1663-1664. doi: 10.1038/s41436-018-0389-6. Epub 2018 Dec 10. No abstract available.
PubMed 30531813Lenz D, McClean P, Kansu A, Bonnen PE, Ranucci G, Thiel C, Straub BK, Harting I, Alhaddad B, Dimitrov B, Kotzaeridou U, Wenning D, Iorio R, Himes RW, Kuloglu Z, Blakely EL, Taylor RW, Meitinger T, Kolker S, Prokisch H, Hoffmann GF, Haack TB, Staufner C. SCYL1 variants cause a syndrome with low gamma-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). Genet Med. 2018 Oct;20(10):1255-1265. doi: 10.1038/gim.2017.260. Epub 2018 Feb 8.
PubMed 29419818Lenz D, Staufner C, Wachter S, Hagedorn M, Ebersold J, Gohring G, Kolker S, Hoffmann GF, Jung-Klawitter S. Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1. Stem Cell Res. 2019 May;37:101428. doi: 10.1016/j.scr.2019.101428. Epub 2019 Mar 22.
PubMed 30959346
Study at a glance
From the registry record, last updated by the sponsor on 4 Dec 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Effectiveness of Rehabilitation Program in an Ultra-rare Calfan Syndrome
- ClinicalTrials.gov ID
- NCT04653909
- Acronym / sponsor ID
- 2020/032
- Conditions
- CALFAN Syndrome
- Keywords
- ataxia, rehabilitation, disabilities
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 1 participants (actual)
- Lead sponsor
- Hasan Kalyoncu UniversityUniversity, hospital or other
- Study start
- 1 Mar 2020 (actual)
- Primary completion
- 20 Oct 2020 (actual)
- Study completion
- 17 Nov 2020 (actual)
- First posted
- 4 Dec 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.
Calfan syndrome is a progressive neurodegenerative systemic disease. It is a rare and difficult disease to diagnose due to the complex symptoms that occur over the years to postpartum. The aim of this study is to investigate the effectiveness of the physiotherapy and rehabilitation program in a rare case with Calfan syndrome.
Detailed description
13 years old, a female patient was diagnosed with Calfan syndrome one year ago. Only 11 patients have been identified in the literature. Its phenotype is characterized by recurrent episodes of liver failure and hepatic fibrosis in early childhood. Our patient had neurological symptoms that were gait disturbances, ataxia and tremor, as well as peripheral neuropathy and cognitive impairment. Also, musculoskeletal problems such as scoliosis, hip dysplasia, osteoporosis, thoracic kyphosis, and increased lordosis were observed.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Case study
| Arm | Type | Receives |
|---|---|---|
| Case | Experimental | Other: RehabilitationA patient who was diagnosed with the calfan syndrome |
Who may qualify
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- Calfan syndrome
Key exclusion criteria (1 listed)
- Any surgery in past six months
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 |
|---|---|---|
| RehabilitationAlso: OrthosesThe abdominal and back strengthening exercises on the mat, the open-closed perturbation training in sitting and standing positions for trunk control. Functional exercises were performed in the same positions for simulating daily living activities. The stretching and strengthening exercises were applied to her scoliosis and also given trunk orthoses. | Other | Case |
Primary outcome
Trunk Control
Time frame: 3 month
The Trunk Disorder Scale (TIS) was used to assess static and dynamic sitting balance and trunk coordination
The severity of ataxia
Time frame: 3 month
The International Ataxia Rating Scale (ICARS) was used to determine the severity
The quality of life
Time frame: 3 month
The Children's Quality of Life Scale (PedsQL) was used determine to quality of life level.
The Functional Independence
Time frame: 3 month
The Functional Independence Scale for Children (WeeFIM) was used determine to independence level.
2 secondary outcomes
Upper extremity functional performance
Time frame: 3 month
Upper extremity disability level
Time frame: 3 month
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 4 Dec 2020.
- Background: PubMed 30531813Spagnoli C, Frattini D, Salerno GG, Fusco C. On CALFAN syndrome: report of a patient with a novel variant in SCYL1 gene and recurrent respiratory failure. Genet Med. 2019 Jul;21(7):1663-1664. doi: 10.1038/s41436-018-0389-6. Epub 2018 Dec 10. No abstract available.
- Background: PubMed 29419818Lenz D, McClean P, Kansu A, Bonnen PE, Ranucci G, Thiel C, Straub BK, Harting I, Alhaddad B, Dimitrov B, Kotzaeridou U, Wenning D, Iorio R, Himes RW, Kuloglu Z, Blakely EL, Taylor RW, Meitinger T, Kolker S, Prokisch H, Hoffmann GF, Haack TB, Staufner C. SCYL1 variants cause a syndrome with low gamma-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). Genet Med. 2018 Oct;20(10):1255-1265. doi: 10.1038/gim.2017.260. Epub 2018 Feb 8.
- Background: PubMed 30959346Lenz D, Staufner C, Wachter S, Hagedorn M, Ebersold J, Gohring G, Kolker S, Hoffmann GF, Jung-Klawitter S. Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1. Stem Cell Res. 2019 May;37:101428. doi: 10.1016/j.scr.2019.101428. Epub 2019 Mar 22.
- Individual participant dataSharing planned: Yes. The applied rehabilitation protocol.
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.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Rehabilitation in people with CALFAN Syndrome, 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 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: finished, as of the sponsor's last update on 4 Dec 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?
Trunk Control (time frame: 3 month). The study lists 4 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 NCT04653909, which also lists 3 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 4 Dec 2020.