Not provided
| ID | Type | Description | Link |
|---|---|---|---|
| 2012-A01063-40 | Registry Identifier | IDRCB |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
The purpose of this project is to study brain energy profile evolution at different stages of the Huntington disease.
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients | Other | 31-Phosphorus RMN Spectroscopy |
|
| Volunteers | Other | 31-Phosphorus RMN Spectroscopy |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 31-Phosphorus RMN Spectroscopy | Other |
|
| Measure | Description | Time Frame |
|---|---|---|
| Ratio of Inorganic Phosphate (Pi) over phosphocreatine (PCr): Pi/PCr | 31P-MRS allows quantification of high-energy phosphate metabolites such as phosphocreatine and inorganic phosphate | 2 years |
| Measure | Description | Time Frame |
|---|---|---|
| Correlation between primary outcome measure and clinical parameters | Correlating a brain energy deficit with clinical parameters in Huntington patients such as the Unified Huntington's disease rating scale (UHDRS) and total functional capacity score (TFC). | 2 years |
| Study of longitudinal changes in Pi/PCr ratio over time. |
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| 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 |
|---|---|---|---|---|---|---|
| Brain and Spine Institute (ICM) | Paris | 75013 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 29315899 | Result | Adanyeguh IM, Monin ML, Rinaldi D, Freeman L, Durr A, Lehericy S, Henry PG, Mochel F. Expanded neurochemical profile in the early stage of Huntington disease using proton magnetic resonance spectroscopy. NMR Biomed. 2018 Mar;31(3):10.1002/nbm.3880. doi: 10.1002/nbm.3880. Epub 2018 Jan 9. | |
| 25568297 | Result | Adanyeguh IM, Rinaldi D, Henry PG, Caillet S, Valabregue R, Durr A, Mochel F. Triheptanoin improves brain energy metabolism in patients with Huntington disease. Neurology. 2015 Feb 3;84(5):490-5. doi: 10.1212/WNL.0000000000001214. Epub 2015 Jan 7. |
Not provided
Not provided
Not provided
| ID | Term |
|---|---|
| D006816 | Huntington Disease |
| ID | Term |
|---|---|
| D001480 | Basal Ganglia Diseases |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Patients will be retested after one month. |
| 2 years |
| 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 |