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Completed

NCT Number: NCT04653909

The Physiotherapy and Rehabilitation in 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.

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Key information

Conditions

CALFAN Syndrome Ataxia Dyskinesias Nervous System Diseases Neurologic Manifestations Pathological Conditions, Signs and Symptoms Signs and Symptoms

Sex eligibility

Female

Study type

Interventional

Phase

Not applicable

Primary location

Hasan Kalyoncu Üniversity

Gaziantep, Turkey (Türkiye)

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Calfan syndrome

Exclusion criteria

  • Any surgery in past six months

Treatment and study plan

rehabilitation

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.

Other names: Orthoses

Primary outcomes

  1. Trunk Control

    Time frame: 3 month

    The Trunk Disorder Scale (TIS) was used to assess static and dynamic sitting balance and trunk coordination

  2. The severity of ataxia

    Time frame: 3 month

    The International Ataxia Rating Scale (ICARS) was used to determine the severity

  3. The quality of life

    Time frame: 3 month

    The Children's Quality of Life Scale (PedsQL) was used determine to quality of life level.

  4. The Functional Independence

    Time frame: 3 month

    The Functional Independence Scale for Children (WeeFIM) was used determine to independence level.

Secondary outcomes

  1. Upper extremity functional performance

    Time frame: 3 month

    The 9-Hole Peg test was used to evaluate upper extremity performance

  2. Upper extremity disability level

    Time frame: 3 month

    the Quick Questionnaire for Arm, Shoulder and Hand Problems (Q-DASH) scale was used to evaluate physical disability and symptoms of upper extremity

Sponsors and collaborators

Lead sponsor

Hasan Kalyoncu University

Other

Registry information

Official study title

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

Important dates

Study start
2020
Primary completion
2020
Study completion
2020
First posted
Dec 4, 2020
Registry last updated
Dec 4, 2020

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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