Metabolic Evaluation of Nutrition in Rett Syndrome

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Brief Title

Metabolic Evaluation of Nutrition in Rett Syndrome

Official Title

A Systematic Metabolic Approach to the Evaluation of Nutrition in Rett Syndrome According to the Cardiorespiratory Phenotype in Dutch Rett Girls

Brief Summary

      Rett syndrome (RTT) is an X-linked severe neurodevelopmental disorder. Despite their good
      appetite, many females with RTT meet the criteria for moderate to severe malnutrition. The
      pathological mechanism is barely understood. Although feeding difficulties may play a part in
      this, other constitutional factors as altered metabolic processes are suspected. Irregular
      breathing is a common clinical feature, reflecting the immaturity of the brainstem in RTT.
      The primary pathophysiology is a defective control mechanism of carbon dioxide exhalation
      that leads to chronic respiratory alkalosis or acidosis. We assume that chronic respiratory
      acidosis or alkalosis causes derangement of the metabolic equilibrium in RTT females with
      important nutritional consequences.

      The aims of this pilot study are to describe the nutritional status of the RTT girls and to
      examine the consequences of a chronic respiratory acidosis or alkalosis on metabolic
      processes as a possible cause of impaired nutritional status.
    



Study Type

Observational


Primary Outcome

1. What is the nutritional status of the RTT girls? 2. Can metabolic alterations caused by chronic respiratory acidosis or alkalosis be detected?


Condition

Rett Syndrome


Study Arms / Comparison Groups

 Rett syndrome girls
Description:  The study population consists of a well-defined group of Dutch RTT thirteen girls with complete clinical, molecular and neurophysiological work-up.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

13

Start Date

May 2009

Completion Date

October 2009

Primary Completion Date

October 2009

Eligibility Criteria

        Inclusion Criteria:

          -  Clinical diagnosis of RTT (meeting consensus diagnostic criteria (Hagberg et al,
             2002));

          -  MECP2-mutation;

          -  Complete neurophysiological work-up.

        Exclusion Criteria:

          -  Male gender.
      

Gender

Female

Ages

2 Years - 20 Years

Accepts Healthy Volunteers

No

Contacts

Leopold MG Curfs, Professor, , 

Location Countries

Netherlands

Location Countries

Netherlands

Administrative Informations


NCT ID

NCT00786071

Organization ID

MEC 08-2-119

Secondary IDs

NL25356.068.08


Study Sponsor

Maastricht University Medical Center


Study Sponsor

Leopold MG Curfs, Professor, Study Director, Maastricht University Medical Center


Verification Date

March 2010