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| ID | Type | Description | Link |
|---|---|---|---|
| 2011-A00137-34 | Registry Identifier | IDRCB |
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The purpose of this study is to identify and quantify a brain energy deficit in Huntington patients, using 31P-RMN spectroscopy.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Healthy volunteers | Other |
| |
| Huntington patients | Other |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 31P-MR spectroscopy | Other | Brain energy deficit is quantified using 31P-MR spectroscopy |
|
| Measure | Description | Time Frame |
|---|---|---|
| Brain energy deficit in Huntington patients | 31P-MRS allows quantification of high-energy phosphate metabolites such as ATP and phosphocreatine. Objective: to look at brain energy metabolism during rest and activation. | one year |
| Measure | Description | Time Frame |
|---|---|---|
| Correlating a brain energy deficit with (i) biochemical parameters and (ii) clinical parameters in Huntington patients | Biochemical parameters include metabolites that we previously showed to be biomarkers in HD: branched chain amino acids and IGF1. Clinical parameters include UHDRS and TFC. | one year |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Fanny Mochel, MD, PhD | INSERM UMR S975 Institut du Cerveau et de la Moelle, AP-HP Département de Génétique, Université Pierre et Marie Curie, Paris France | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hopital de la Pitié-Salpetrière | Paris | 75013 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 21285522 | Background | Mochel F, Haller RG. Energy deficit in Huntington disease: why it matters. J Clin Invest. 2011 Feb;121(2):493-9. doi: 10.1172/JCI45691. Epub 2011 Feb 1. | |
| 17653274 | Background | Mochel F, Charles P, Seguin F, Barritault J, Coussieu C, Perin L, Le Bouc Y, Gervais C, Carcelain G, Vassault A, Feingold J, Rabier D, Durr A. Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression. PLoS One. 2007 Jul 25;2(7):e647. doi: 10.1371/journal.pone.0000647. |
| Label | URL |
|---|---|
| European Huntington's Disease Network | View source |
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| ID | Term |
|---|---|
| D006816 | Huntington Disease |
| ID | Term |
|---|---|
| D001480 | Basal Ganglia Diseases |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
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| 31P-RMN spectroscopy | Other | Brain energy deficit is quantified using 31P-RMN spectroscopy |
|
| 21320997 | Background | Mochel F, Benaich S, Rabier D, Durr A. Validation of plasma branched chain amino acids as biomarkers in Huntington disease. Arch Neurol. 2011 Feb;68(2):265-7. doi: 10.1001/archneurol.2010.358. No abstract available. |
| 22517114 | Result | Mochel F, N'Guyen TM, Deelchand D, Rinaldi D, Valabregue R, Wary C, Carlier PG, Durr A, Henry PG. Abnormal response to cortical activation in early stages of Huntington disease. Mov Disord. 2012 Jun;27(7):907-10. doi: 10.1002/mds.25009. Epub 2012 Apr 19. |
| D003704 | Dementia |
| D002819 | Chorea |
| D020820 | Dyskinesias |
| D009069 | Movement Disorders |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D003072 | Cognition Disorders |
| D019965 | Neurocognitive Disorders |
| D001523 | Mental Disorders |