NCT00786071|Completed
Metabolic Evaluation of Nutrition in Rett Syndrome
A Systematic Metabolic Approach to the Evaluation of Nutrition in Rett Syndrome According to the Cardiorespiratory Phenotype in Dutch Rett Girls
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A Systematic Metabolic Approach to the Evaluation of Nutrition in Rett Syndrome According to the Cardiorespiratory Phenotype in Dutch Rett Girls
Sponsor study identifier
Secondary identifiers
OTHER · Medical Ethical Committee University Hospital of Maastricht
observational
13
1 country
1
Study Start
May 2009
Date type not reportedThis date has not been verified as actual or estimated.
Primary Completion
October 2009
Actual (reported)Study Completion
October 2009
Actual (reported)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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
October 2009
Actual (reported)Click on a node to explore related trials.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
November 4, 2008
Actual (reported)November 5, 2008
Actual (reported)May 2009
Date type not reportedThis date has not been verified as actual or estimated.
October 2009
Actual (reported)October 2009
Actual (reported)1. What is the nutritional status of the RTT girls? 2. Can metabolic alterations caused by chronic respiratory acidosis or alkalosis be detected?
Once.
The study population consists of a well-defined group of Dutch RTT thirteen girls with complete clinical, molecular and neurophysiological work-up.
The study population consists of a well-defined group of thirteen Dutch RTT girls with complete clinical, molecular and neurophysiological work-up.
University Hospital Maastricht
Maastricht, Limburg, 6229 HX, Netherlands
Reilly S, Cass H. Growth and nutrition in Rett syndrome. Disabil Rehabil. 2001 Feb 15-Mar 10;23(3-4):118-28. doi: 10.1080/09638280150504199.
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. doi: 10.1097/MPG.0b013e318073cbf7.
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. doi: 10.1055/s-2007-979776.
Whole blood, serum, dried blood spot, leukocytes, erythrocytes, urine.
Leopold MG Curfs, Professor
Maastricht University Medical Center
Eric EJ Smeets, MD, PhD
Maastricht University Medical Center
13 participants (actual enrollment reported by the registry).
First Submitted
November 4, 2008
First Posted
November 5, 2008
Study Start
May 2009
Date type not reportedThis date has not been verified as actual or estimated.
Treatment of Rett Syndrome With Recombinant Human IGF-1
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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. doi: 10.1016/s0387-7604(01)00369-2.
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. doi: 10.1371/journal.pone.0000157.
Julu PO, Engerstrom IW, Hansen S, Apartopoulos F, Engerstrom B, Pini G, Delamont RS, Smeets EE. Cardiorespiratory challenges in Rett's syndrome. Lancet. 2008 Jun 14;371(9629):1981-3. doi: 10.1016/S0140-6736(08)60849-1. No abstract available.
Primary Completion
October 2009
Actual (reported)Study Completion
October 2009
Actual (reported)Last Updated
March 4, 2010
Record last verified: 2010-03
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