NCT04653909

Brief 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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
1

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Mar 2020

Shorter than P25 for not_applicable

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

March 1, 2020

Completed
8 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

October 20, 2020

Completed
28 days until next milestone

Study Completion

Last participant's last visit for all outcomes

November 17, 2020

Completed
9 days until next milestone

First Submitted

Initial submission to the registry

November 26, 2020

Completed
8 days until next milestone

First Posted

Study publicly available on registry

December 4, 2020

Completed
Last Updated

December 4, 2020

Status Verified

December 1, 2020

Enrollment Period

8 months

First QC Date

November 26, 2020

Last Update Submit

December 3, 2020

Conditions

CALFAN Syndrome

Keywords

ataxiarehabilitationdisabilities

Outcome Measures

Primary Outcomes (4)

  • 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 Outcomes (2)

  • Upper extremity functional performance

    3 month

  • Upper extremity disability level

    3 month

Study Arms (1)

Case

EXPERIMENTAL

A patient who was diagnosed with the calfan syndrome

Other: Rehabilitation

Interventions

RehabilitationOTHER

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.

Also known as: Orthoses
Case

Eligibility Criteria

Sexfemale
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • Calfan syndrome

You may not qualify if:

  • Any surgery in past six months

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Hasan Kalyoncu Üniversity

Gaziantep, Turkey (Türkiye)

Location

Related Publications (3)

  • 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.

    PMID: 30531813BACKGROUND

  • 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.

    PMID: 29419818BACKGROUND

  • 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.

    PMID: 30959346BACKGROUND

MeSH Terms

Conditions

Ataxia

Interventions

RehabilitationOrthotic Devices

Condition Hierarchy (Ancestors)

DyskinesiasNeurologic ManifestationsNervous System DiseasesSigns and SymptomsPathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

AftercareContinuity of Patient CarePatient CareTherapeuticsHealth ServicesHealth Care Facilities Workforce and ServicesOrthopedic EquipmentSurgical EquipmentEquipment and Supplies

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
TREATMENT
Intervention Model
SINGLE GROUP
Model Details: Case study
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Assistant of professeur

Study Record Dates

First Submitted

November 26, 2020

First Posted

December 4, 2020

Study Start

March 1, 2020

Primary Completion

October 20, 2020

Study Completion

November 17, 2020

Last Updated

December 4, 2020

Record last verified: 2020-12

Data Sharing

IPD Sharing
Will share

The applied rehabilitation protocol.

Shared Documents
CSR
Time Frame
Five years

Locations

TU(1)