The Physiotherapy and Rehabilitation in Calfan Syndrome

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.

Study Overview

• Status: Completed
• Conditions: CALFAN Syndrome
• Intervention / Treatment: Other: Rehabilitation

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 Type: Interventional
• Enrollment (Actual): 1
• Phase: Not Applicable

Contacts and Locations

Study Locations

• Turkey
  • Gaziantep, Turkey
    • Hasan Kalyoncu University

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Female

Description

Inclusion Criteria:

• Calfan syndrome

Exclusion Criteria:

• Any surgery in past six months

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Case; A patient who was diagnosed with the calfan syndrome	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.; Other Names: Orthoses

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Trunk Control	The Trunk Disorder Scale (TIS) was used to assess static and dynamic sitting balance and trunk coordination	3 month
The severity of ataxia	The International Ataxia Rating Scale (ICARS) was used to determine the severity	3 month
The quality of life	The Children's Quality of Life Scale (PedsQL) was used determine to quality of life level.	3 month
The Functional Independence	The Functional Independence Scale for Children (WeeFIM) was used determine to independence level.	3 month

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Upper extremity functional performance	The 9-Hole Peg test was used to evaluate upper extremity performance	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	3 month

Collaborators and Investigators

• Sponsor: Hasan Kalyoncu University

Publications and helpful links

General 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.
• 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, Kuloğlu Z, Blakely EL, Taylor RW, Meitinger T, Kölker S, Prokisch H, Hoffmann GF, Haack TB, Staufner C. SCYL1 variants cause a syndrome with low γ-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.
• 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.

Study record dates

Study Major Dates

• Study Start (Actual): March 1, 2020
• Primary Completion (Actual): October 20, 2020
• Study Completion (Actual): November 17, 2020

Study Registration Dates

• First Submitted: November 26, 2020
• First Submitted That Met QC Criteria: December 3, 2020
• First Posted (Actual): December 4, 2020

Study Record Updates

• Last Update Posted (Actual): December 4, 2020
• Last Update Submitted That Met QC Criteria: December 3, 2020
• Last Verified: December 1, 2020

More Information

Terms related to this study

• Keywords: rehabilitation; ataxia; disabilities
• Additional Relevant MeSH Terms: Pathologic Processes; Disease; Syndrome
• Other Study ID Numbers: 2020/032

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: Yes
• IPD Plan Description: The applied rehabilitation protocol.
• IPD Sharing Time Frame: Five years
• IPD Sharing Supporting Information Type: Clinical Study Report (CSR)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No