In Vitro NMR Spectroscopy in Neurological Diseases

NCT00841984 | Terminated

• 1 other identifier: P051057
• Study Type: observational
• Target: 271
• Locations: 1 country
• Sites: 1

Brief Summary

The search for metabolic abnormalities in patients with neurological disorders represents an important challenge 1) to identify new potentially treatable inherited metabolic diseases, and 2) to identify biomarkers or new treatments in more common neurodegenerative or neurogenetic disorders. This approach is currently limited by the fact that techniques aiming at identifying abnormal metabolites in human fluids (metabolomics) only detect subsets of molecules and that no general assays is available to detect abnormalities in the metabolism of complex molecules that takes place within cell organelles. As a consequence, only limited parts of the metabolism can be studied simultaneously. The aim of this study is to evaluate whether NRM spectroscopy of body fluids (urines, cerebrospinal fluid) could allow to detect new metabolic abnormalities in patients with complex neurological diseases.

Conditions

Neurological Diseases

Keywords

Magnetic resonance spectroscopy; neurological diseases; metabolic; inborn errors of metabolism; Complex neurological diseases of unknown cause

Outcome Measures

Primary Outcomes (1)

• Number of patients with new metabolic diseases

  during the study

Study Arms (3)

1

patients with complex neurological disease of unknown cause

2

positive controls : patients with already known metabolic disease for whom we already have CSF or urines

3

negative controls: patients with non metabolic neurological disorders of known cause hospitalized for a lumbar puncture

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adult patients with an unexplained complex neurological disease

You may qualify if:

• Group 1: Any patient with an unexplained complex neurological disease
• Group 2: Patients with known inborn error of metabolism
• Group 3: patients with known non metabolic disease

You may not qualify if:

• none

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Neurology department, Pitié-Salpêtrière Hospital

Paris, 75013, France

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

urines, cerebrospinal fluid

MeSH Terms

Conditions

Metabolism, Inborn Errors

Condition Hierarchy (Ancestors)

Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Frederic Sedel, MD, PhD

  Assistance Publique - Hôpitaux de Paris

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER

Study Record Dates

• First Submitted: February 11, 2009
• First Posted: February 12, 2009
• Study Start: July 1, 2006
• Primary Completion: July 1, 2008
• Study Completion: January 1, 2009
• Last Updated: February 12, 2009

Record last verified: 2009-02

Locations

FR (1)