Adrenoleukodystrophy
Conditions
Keywords
adrenoleukodystrophy, inborn errors of metabolism, rare disease, sphingolipidoses
Brief summary
OBJECTIVES: I. Evaluate the clinical efficacy of combination glyceryl trierucate and glyceryl trioleate (Lorenzo's Oil) therapy in boys with X-linked adrenoleukodystrophy. II. Compare the frequency and severity of neurological disability of study patients with untreated historical controls.
Detailed description
PROTOCOL OUTLINE: This is an open label study. Patients must follow dietary instructions as provided by the investigator. Patients receive 2-4 tablespoons of a mixture of glyceryl trierucate and glyceryl trioleate oil once daily. Patients complete a neuropsychological scoring scale questionnaire to measure neurological disability. Patients undergo physical examinations including magnetic resonance imaging and magnetic resonance spectroscopy of the head. Patients are followed monthly for 6 months, then every 3 months until they reach the age of 13 years or death.
Interventions
DRUGglyceryl trierucate/glyceryl trioleate
Administration of glyceryl trierucate/glyceryl trioleate
Sponsors
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
MALE
Age
18 Months to 8 Years
Healthy volunteers
No
Inclusion criteria
. 1. Boys between the age of 18 months and 8 years of age 2. Biochemically proven asymptomatic X-linked adrenoleukodystrophy determined by elevation of very long chain fatty acids or DNA analysis. 3. Platelet count in normal range
Exclusion criteria
. 1. Abnormal MRI consistent with childhood cerebral disease 2. Boys who have undergone bone marrow transplantation 3. Other medical condition which in the opinion of the investigator prevents evaluation or treatment
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change From Baseline in Very Long Chain Fatty Acids (VLCFA) Blood Levels | Baseline, an average of 10 years, up to age 13 | we will assess the change in very long-chain fatty acids as determined by reduction of blood level baseline C26:0 level. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Number of Participants With T2 MRI Abnormality | 10 years | We used MRI to determine the number of participants with T2 MRI abnormality indicating childhood Adrenoleukodystrophy (ALD). |
Countries
United States
Participant flow
Recruitment details
An open trial of Lorenzo's oil spanning decades (1998-2013). Centered at the Kennedy Krieger.
Participants by arm
| Arm | Count |
|---|---|
| GTO/GTE Treatment Intervention: A mixture of glycerol trierucate (GTE) in glycerol trioleate (GTO) in combination with a diet low in saturated fats.
GTO/GTE orally; 30-60 ml daily for study period
glyceryl trierucate: Glyceryl trierucate is an oil to reduce very long chain fatty acids
glyceryl trioleate: Patients receive 2-4 tablespoons of a mixture of glyceryl trierucate and glyceryl trioleate oil once daily. | 126 |
| Total | 126 |
Baseline characteristics
| Characteristic | GTO/GTE Treatment |
|---|---|
| Age, Categorical <=18 years | 126 Participants |
| Age, Categorical >=65 years | 0 Participants |
| Age, Categorical Between 18 and 65 years | 0 Participants |
| Age, Continuous | 3.25 years |
| Region of Enrollment United States | 126 participants |
| Sex: Female, Male Female | 0 Participants |
| Sex: Female, Male Male | 126 Participants |
Adverse events
| Event type | EG000 affected / at risk |
|---|---|
| deaths Total, all-cause mortality | 1 / 126 |
| other Total, other adverse events | 1 / 126 |
| serious Total, serious adverse events | 3 / 126 |
Outcome results
Primary
Change From Baseline in Very Long Chain Fatty Acids (VLCFA) Blood Levels
we will assess the change in very long-chain fatty acids as determined by reduction of blood level baseline C26:0 level.
Time frame: Baseline, an average of 10 years, up to age 13
| Arm | Measure | Value (MEAN) |
|---|---|---|
| GTO/GTE Treatment | Change From Baseline in Very Long Chain Fatty Acids (VLCFA) Blood Levels | 0.41 mcg/mL |
Secondary
Number of Participants With T2 MRI Abnormality
We used MRI to determine the number of participants with T2 MRI abnormality indicating childhood Adrenoleukodystrophy (ALD).
Time frame: 10 years
| Arm | Measure | Value (COUNT_OF_PARTICIPANTS) |
|---|---|---|
| GTO/GTE Treatment | Number of Participants With T2 MRI Abnormality | 0 Participants |