Metabolic Evaluation of Nutrition in Rett Syndrome

NCT ID: NCT00786071

Last Updated: 2010-03-04

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

13 participants

Study Classification

OBSERVATIONAL

Study Start Date

2009-05-31

Study Completion Date

2009-10-31

Brief Summary

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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.

Detailed Description

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Conditions

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Rett Syndrome

Study Design

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Study Time Perspective

CROSS_SECTIONAL

Study Groups

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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.

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* Clinical diagnosis of RTT (meeting consensus diagnostic criteria (Hagberg et al, 2002));
* MECP2-mutation;
* Complete neurophysiological work-up.

Exclusion Criteria

* Male gender.
Minimum Eligible Age

2 Years

Maximum Eligible Age

20 Years

Eligible Sex

FEMALE

Accepts Healthy Volunteers

No

Sponsors

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Maastricht University Medical Center

OTHER

Sponsor Role lead

Responsible Party

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University Hospital Maastricht.

Principal Investigators

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Leopold MG Curfs, Professor

Role: STUDY_DIRECTOR

Maastricht University Medical Center

Eric EJ Smeets, MD, PhD

Role: STUDY_DIRECTOR

Maastricht University Medical Center

Locations

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University Hospital Maastricht

Maastricht, Limburg, Netherlands

Site Status

Countries

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Netherlands

References

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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.

Reference Type BACKGROUND
PMID: 11247007 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 18030237 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 8719742 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 11738881 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 17237885 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 18555901 (View on PubMed)

Other Identifiers

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NL25356.068.08

Identifier Type: OTHER

Identifier Source: secondary_id

MEC 08-2-119

Identifier Type: -

Identifier Source: org_study_id

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