Metabolic Evaluation of Nutrition in Rett Syndrome - Full Text View

Purpose

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.

Condition
Rett Syndrome

Study Type:	Observational
Study Design:	Time Perspective: Cross-Sectional
Official Title:	A Systematic Metabolic Approach to the Evaluation of Nutrition in Rett Syndrome According to the Cardiorespiratory Phenotype in Dutch Rett Girls

Resource links provided by NLM:

Genetics Home Reference related topics: MECP2 duplication syndrome PPM-X syndrome Renpenning syndrome Rett syndrome

MedlinePlus related topics: Rett Syndrome

U.S. FDA Resources

Further study details as provided by Maastricht University Medical Center:

Primary Outcome Measures:

1. What is the nutritional status of the RTT girls? 2. Can metabolic alterations caused by chronic respiratory acidosis or alkalosis be detected? [ Time Frame: Once. ] [ Designated as safety issue: No ]

Biospecimen Retention: Samples Without DNA

Whole blood, serum, dried blood spot, leukocytes, erythrocytes, urine.

Enrollment:	13
Study Start Date:	May 2009
Study Completion Date:	October 2009
Primary Completion Date:	October 2009 (Final data collection date for primary outcome measure)

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

Eligibility

Ages Eligible for Study:	2 Years to 20 Years
Genders Eligible for Study:	Female
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

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

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.

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00786071

Locations

Netherlands
University Hospital Maastricht
Maastricht, Limburg, Netherlands, 6229 HX

Sponsors and Collaborators

Maastricht University Medical Center

Investigators

Study Director:	Leopold MG Curfs, Professor	Maastricht University Medical Center
Study Director:	Eric EJ Smeets, MD, PhD	Maastricht University Medical Center

More Information

Publications:

Reilly S, Cass H. Growth and nutrition in Rett syndrome. Disabil Rehabil. 2001 Feb 15-Mar 10;23(3-4):118-28. Review.

Oddy WH, Webb KG, Baikie G, Thompson SM, Reilly S, Fyfe SD, Young D, Anderson AM, Leonard H. Feeding experiences and growth status in a Rett syndrome population. J Pediatr Gastroenterol Nutr. 2007 Nov;45(5):582-90.

Rocchigiani M, Sestini S, Micheli V, Pescaglini M, Jacomelli G, Hayek G, Pompucci G. Purine and pyridine nucleotide metabolism in the erythrocytes of patients with Rett syndrome. Neuropediatrics. 1995 Dec;26(6):288-92.

Sierra C, Vilaseca MA, Brandi N, Artuch R, Mira A, Nieto M, Pineda M. Oxidative stress in Rett syndrome. Brain Dev. 2001 Dec;23 Suppl 1:S236-9.

Viola A, Saywell V, Villard L, Cozzone PJ, Lutz NW. Metabolic fingerprints of altered brain growth, osmoregulation and neurotransmission in a Rett syndrome model. PLoS ONE. 2007 Jan 17;2(1):e157.

Julu PO, Engerström IW, Hansen S, Apartopoulos F, Engerström B, Pini G, Delamont RS, Smeets EE. Cardiorespiratory challenges in Rett's syndrome. Lancet. 2008 Jun 14;371(9629):1981-3. No abstract available.

Responsible Party:	Prof. dr. L.M.G. Curfs, University Hospital Maastricht.
ClinicalTrials.gov Identifier:	NCT00786071 History of Changes
Other Study ID Numbers:	MEC 08-2-119, NL25356.068.08
Study First Received:	November 4, 2008
Last Updated:	March 3, 2010
Health Authority:	Netherlands: The Central Committee on Research Involving Human Subjects (CCMO)

Keywords provided by Maastricht University Medical Center:

Rett syndrome.
Nutritional status.
Metabolic alterations.

Additional relevant MeSH terms:

Rett Syndrome
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Nervous System Diseases
Mental Retardation, X-Linked

Mental Retardation
Neurobehavioral Manifestations
Neurologic Manifestations
Genetic Diseases, X-Linked
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on May 23, 2013