The Physiotherapy and Rehabilitation in Calfan Syndrome

CALFAN Syndrome Clinical Trial

Official title:

The Effectiveness of Rehabilitation Program in an Ultra-rare Calfan Syndrome

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04653909
• Other study ID #: 2020/032
• Status: Completed
• Phase: N/A
• Start date: March 1, 2020
• Est. completion date: November 17, 2020

Study information

• Verified date: December 2020
• Source: Hasan Kalyoncu University
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical 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. The aim of this study is to investigate the effectiveness of the physiotherapy and rehabilitation program in a rare case with Calfan syndrome.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 1
• Est. completion date: November 17, 2020
• Est. primary completion date: October 20, 2020
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Female
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Calfan syndrome

Exclusion Criteria:

• Any surgery in past six months

Related Conditions & MeSH terms

• CALFAN Syndrome
• Syndrome

Intervention

Other:
• Rehabilitation
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.

Locations

Country	Name	City	State
Turkey	Hasan Kalyoncu Üniversity	Gaziantep

Sponsors (1)

Lead Sponsor	Collaborator
Hasan Kalyoncu University

Country where clinical trial is conducted

Turkey, 

References & Publications (3)

Lenz 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, Kölker S, Prokisch H, Hoffmann GF, Haack TB, Staufner C. SCYL1 variants cause a syndrome with low ?-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. — View Citation

Lenz D, Staufner C, Wächter S, Hagedorn M, Ebersold J, Göhring G, Kölker 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. — View Citation

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Trunk Control	The Trunk Disorder Scale (TIS) was used to assess static and dynamic sitting balance and trunk coordination	3 month
Primary	The severity of ataxia	The International Ataxia Rating Scale (ICARS) was used to determine the severity	3 month
Primary	The quality of life	The Children's Quality of Life Scale (PedsQL) was used determine to quality of life level.	3 month
Primary	The Functional Independence	The Functional Independence Scale for Children (WeeFIM) was used determine to independence level.	3 month
Secondary	Upper extremity functional performance	The 9-Hole Peg test was used to evaluate upper extremity performance	3 month
Secondary	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	3 month