Functional Abilities in Rett Syndrome

The purpose of this study is to evaluate and determinate the functional abilities in Rett syndrome conforming to the established Pediatric Evaluation of Disability Inventory (PEDI).

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Key information

Conditions

Rett Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Genetic Diseases, X-Linked Heredodegenerative Disorders, Nervous System Intellectual Disability Mobility Limitation Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Pathological Conditions, Signs and Symptoms Signs and Symptoms X-Linked Intellectual Disability

Sex eligibility

Female

Study type

Observational

Primary location

Faculdades Metropolitanas Unidas

São Paulo, 04505-001, Brazil

About this study

Rett syndrome (RS) is a progressive neurological disturbance of genetic cause that affects females almost exclusively. It is caused by mutations, usually sporadic, of the MECP2 gene located in the X chromosome. In consequence to the serious cognitive and motor compromise, the RS patients have great difficulty in accomplishing day-to-day tasks. The objective of this work is to evaluate the functional abilities in RS to help therapists in theirs treatments programs.

Who can participate

Healthy volunteers accepted: Yes

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

Inclusion criteria

Patients with Rett syndrome that matched the criteria for the classic form of the disease

Exclusion criteria

Any other disease;
Rett syndrome associated with other disease
Rett syndrome that not that matched the criteria for the classic form of the disease

Sponsors and collaborators

Lead sponsor

Faculdades Metropolitanas Unidas

Other

Collaborators

University of Sao Paulo

Registry information

Important dates

Study start: 2006
Primary completion: 2006
Study completion: 2006
First posted: Mar 7, 2008
Registry last updated: Mar 7, 2008

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.

Published trials that share one or more normalized conditions with this study.

Completed