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The Physiotherapy and Rehabilitation in Calfan Syndrome

NCT ID: NCT04653909

Last Updated: 2020-12-04

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

1 participants

Study Classification

INTERVENTIONAL

Study Start Date

2020-03-01

Study Completion Date

2020-11-17

Brief Summary

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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

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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

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CALFAN Syndrome

Keywords

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ataxia rehabilitation disabilities

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Case study
Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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Case

A patient who was diagnosed with the calfan syndrome

Group Type EXPERIMENTAL

Rehabilitation

Intervention Type OTHER

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.

Interventions

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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.

Intervention Type OTHER

Other Intervention Names

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Orthoses

Eligibility Criteria

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Inclusion Criteria

* Calfan syndrome

Exclusion Criteria

* Any surgery in past six months
Eligible Sex

FEMALE

Accepts Healthy Volunteers

Yes

Sponsors

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Hasan Kalyoncu University

OTHER

Sponsor Role lead

Responsible Party

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Serkan Usgu

Assistant of professeur

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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Hasan Kalyoncu Üniversity

Gaziantep, , Turkey (Türkiye)

Site Status

Countries

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Turkey (Türkiye)

References

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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.

Reference Type BACKGROUND
PMID: 30531813 (View on PubMed)

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, 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.

Reference Type BACKGROUND
PMID: 29419818 (View on PubMed)

Lenz 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.

Reference Type BACKGROUND
PMID: 30959346 (View on PubMed)

Other Identifiers

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2020/032

Identifier Type: -

Identifier Source: org_study_id