Huntington Disease
Conditions
Brief summary
The purpose of this project is to study the efficacy of an anaplerotic treatment on brain energy profile evolution at an early stage of the Huntington disease.
Interventions
DRUGTriheptanoin 1g/kg/day
Sponsors
Institut National de la Santé Et de la Recherche Médicale, France
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* 5 \< UHDRS \< 50 * Age \> 18 years * Ability to undergo MR scanning * Covered by french social security
Exclusion criteria
* Evidence of psychiatric disorder * Attendant neurological disorder * Contraindications to MRI (claustrophobia, metallic or material implants) * Severe head injury * Unable to understand the protocol * Pregnancy * Failure to give informed consent * Subjects with
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Ratio of Inorganic Phosphate (Pi) Over Phosphocreatine (PCr): Pi/PCr | visit 1 (baseline), visit 2 (after 1 month of treatment) | The Pi/PCr Ratio is a measure of brain metabolism and it is an index of mitochondrial oxidative regulation. A 6-cm 31P transmit/receive surface coil (RAPID Biomedical GmbH, Rimpar, Germany) was used to collect free induction decays for 4 minutes at rest, 8 minutes during visual activation with 6-Hz red/black checkerboard flashes, and 8 minutes after stimulation. Subjects were able to focus on the flashes with a nonmagnetic mirror mounted above their eyes while all lights in the room were turned off. The Pi/PCr ratio was then calculated to determine brain response to cortical activation. |
Countries
France
Participant flow
Participants by arm
| Arm | Count |
|---|---|
| Triheptanoin Oil at 1g/kg/Day for 1 Month Patients received triheptanoin oil at 1g/kg/day for 1 month | 10 |
| Total | 10 |
Baseline characteristics
| Characteristic | Triheptanoin Oil at 1g/kg/Day for 1 Month |
|---|---|
| Age, Categorical <=18 years | 0 Participants |
| Age, Categorical >=65 years | 0 Participants |
| Age, Categorical Between 18 and 65 years | 10 Participants |
| Region of Enrollment France | 10 Participants |
| Sex: Female, Male Female | 5 Participants |
| Sex: Female, Male Male | 5 Participants |
Adverse events
| Event type | EG000 affected / at risk |
|---|---|
| other Total, other adverse events | 0 / 10 |
| serious Total, serious adverse events | 0 / 10 |
Outcome results
Primary
Ratio of Inorganic Phosphate (Pi) Over Phosphocreatine (PCr): Pi/PCr
The Pi/PCr Ratio is a measure of brain metabolism and it is an index of mitochondrial oxidative regulation. A 6-cm 31P transmit/receive surface coil (RAPID Biomedical GmbH, Rimpar, Germany) was used to collect free induction decays for 4 minutes at rest, 8 minutes during visual activation with 6-Hz red/black checkerboard flashes, and 8 minutes after stimulation. Subjects were able to focus on the flashes with a nonmagnetic mirror mounted above their eyes while all lights in the room were turned off. The Pi/PCr ratio was then calculated to determine brain response to cortical activation.
Time frame: visit 1 (baseline), visit 2 (after 1 month of treatment)
| Arm | Measure | Group | Value (MEAN) | Dispersion |
|---|---|---|---|---|
| Triheptanoin Oil at 1g/kg/Day for 1 Month | Ratio of Inorganic Phosphate (Pi) Over Phosphocreatine (PCr): Pi/PCr | Pi/PCr - rest at visit#1 | 0.44 ratio | Standard Deviation 0.09 |
| Triheptanoin Oil at 1g/kg/Day for 1 Month | Ratio of Inorganic Phosphate (Pi) Over Phosphocreatine (PCr): Pi/PCr | Pi/PCr - visual stimulation at visit#1 | 0.43 ratio | Standard Deviation 0.04 |
| Triheptanoin Oil at 1g/kg/Day for 1 Month | Ratio of Inorganic Phosphate (Pi) Over Phosphocreatine (PCr): Pi/PCr | Pi/PCr - recovery at visit#1 | 0.44 ratio | Standard Deviation 0.08 |
| Triheptanoin Oil at 1g/kg/Day for 1 Month | Ratio of Inorganic Phosphate (Pi) Over Phosphocreatine (PCr): Pi/PCr | Pi/PCr - rest at visit#2 | 0.42 ratio | Standard Deviation 0.05 |
| Triheptanoin Oil at 1g/kg/Day for 1 Month | Ratio of Inorganic Phosphate (Pi) Over Phosphocreatine (PCr): Pi/PCr | Pi/PCr - visual stimulation at visit#2 | 0.45 ratio | Standard Deviation 0.05 |
| Triheptanoin Oil at 1g/kg/Day for 1 Month | Ratio of Inorganic Phosphate (Pi) Over Phosphocreatine (PCr): Pi/PCr | Pi/PCr - recovery at visit#2 | 0.42 ratio | Standard Deviation 0.04 |
Secondary
Correlation Between Primary Outcome Measure and Clinical Parameters
Correlating an improvement of brain energy profile with clinical parameters in Huntington patients such as the Unified Huntington's disease rating scale (UHDRS) and total functional capacity score (TFC).
Time frame: visit 1 (baseline), visit 2 (after 1 month of treatment)