Clinical trial NCT04653909: The Physiotherapy and Rehabilitation in Calfan Syndrome
Official title: The Effectiveness of Rehabilitation Program in an Ultra-rare Calfan Syndrome
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: CALFAN Syndrome
Keywords: ataxia
rehabilitation
disabilities
Lead sponsor: Hasan Kalyoncu University
Sponsor class: OTHER
First posted: 2020-12-04
Enrollment: 1
Sex: FEMALE
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: NA
Intervention model: SINGLE_GROUP
Intervention model description: Case study
Primary purpose: TREATMENT

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.

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.

Eligibility criteria: Inclusion Criteria:

* Calfan syndrome

Exclusion Criteria:

* Any surgery in past six months

Primary outcomes:
measure: Trunk Control
timeFrame: 3 month
measure: The severity of ataxia
timeFrame: 3 month
measure: The quality of life
timeFrame: 3 month
measure: The Functional Independence
timeFrame: 3 month
Secondary outcomes:
measure: Upper extremity functional performance
timeFrame: 3 month
measure: Upper extremity disability level
timeFrame: 3 month
Other outcomes:
Locations:
city: Gaziantep
country: Turkey
facility: Hasan Kalyoncu Üniversity
Study officials:
References:
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. No abstract available.
citation: 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.
citation: 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.