Betaine will be given orally to all participants and dose will be adjusted to body weight.

Betaine will be given orally to all participants and dose will be adjusted to body weight.
Betaine: Betaine given orally (mixed with food or dissolved in water, juice, milk, or formula) or through gastrostomy tube:
6 g/day in children < 30 kg, in 3 divided doses (2 g at meal time)
12 g/day in children > 30 kg, in 4 divided doses (3 g at meal time and bed time).

Betaine

Participants (n = 12) were seen at the research site at the beginning (baseline visit) and at the end of the study (6-month visit).
Physical examination was done at baseline and final visits. Medical history was collected and updated at that time.
Hematology, laboratory, and biochemical parameters were measured at baseline and 6 months.

Sex: Female, Male

Region of Enrollment

Homozygous (mild form of PBD) or hemizygous for PEX1 G843D mutation (intermediate form of PBD)

Mutation status

C26/C22 ratio in plasma is a recognized biomarker for very long chain fatty acid (normal range: 0.002-0.018). It was measured twice before the beginning of treatment and measured once at the end.

Betaine will be given orally to all participants and dose will be adjusted to body weight.
Betaine will be given orally (mixed with food or dissolved in water, juice, milk, or formula) or through gastrostomy tube as follows:
6 g/day in children < 30 kg, in 3 divided doses (2 g at meal time)
12 g/day in children > 30 kg, in 4 divided doses (3 g at meal time and bed time).

Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid

Denver Developmental Screening Test expressed in years and months.

Betaine will be given orally to all participants and dose will be adjusted to body weight.
Betaine: Betaine will be given orally (mixed with food or dissolved in water, juice, milk, or formula) or through gastrostomy tube as follows:
6 g/day in children < 30 kg, in 3 divided doses (2 g at meal time)
12 g/day in children > 30 kg, in 4 divided doses (3 g at meal time and bed time).

Developmental Status

Overall Study

Dr. Nancy Braverman, Associate Professor, Human Genetics and Pediatrics

Peroxisome Biogenesis Disorders

Betaine will be given orally (mixed with food or dissolved in water, juice, milk, or formula) or through gastrostomy tube as follows:
6 g/day in children < 30 kg, in 3 divided doses (2 g at meal time)
12 g/day in children > 30 kg, in 4 divided doses (3 g at meal time and bed time).

Montreal Children's Hospital

Betaine and Peroxisome Biogenesis Disorders

A Pilot, Open Label Trial Assessing the Safety and Efficacy of Betaine in Children With Peroxisome Biogenesis Disorders.

Nancy Braverman

Associate Professor, Depts. of Human Genetics and Pediatrics

McGill University Health Centre/Research Institute of the McGill University Health Centre

Children's Hospital and Medical Center, Omaha, Nebraska

EPI- 743 in capsule or formulation comprised of USP/NF (United States Pharmacopeia and The National Formulary)Sesame Oil at a potency of 100 mg EPI-743/ 1 mL total volume. Mode of Administration: Oral with meal or G-Tube infusion with food.
Dose: 100mg or 200 mg tid for 12 months, to be continued if clinically effective

placebo in the same formulation as the active comparator will be administered to patients, assigned to this arm in a randomized design

Methylmalonic Aciduria and Homocystinuria,Cblc Type

Genetic Disease

Retinopathy

EPI- 743 in capsule or formulation comprised of USP/NF Sesame Oil at a potency of 100 mg EPI-743/ 1 mL total volume. Mode of Administration: Oral with meal or G-Tube infusion with food.

Epi-743

Placebo will be administered in the same formulation as the active comparator

Placebo supplementation

Bambino Gesù Hospital and Research Institute

EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment

Phase 2, Double-Blind, Placebo Controlled Clinical Trial of EPI-743 in Subjects With Cobalamin C Defect

Visual acuity: - Patients age 0-2: Durand acuity cards procedure: Improvement from baseline or nadir by greater than 2 lines when converted to EDTRS values.-Patients age 2-4: LEA Symbols for crowding binocular acuity: Improvement from baseline or nadir by greater than 2 lines when converted to EDTRS values; -Patients age > 4 years: Cambridge acuity cards: Improved from baseline or nadir by greater than 2 lines on the EDTRS acuity testing chart at 4 meters. Eye-hand coordination: -Patients age 0-2: Improvement over baseline of 20% on Griffiths Mental Development Scale subscales D,E; - Patients age > 2: Improvement over baseline of 20% on Movement Assessment Battery for Children

Steady-state luminance VEPs to sinusoidal flicker at the optimal frequency of 8 Hz.

Evaluation of neurological function with Gross motor function measure, movement ABC

Glutathione species in blood cells, Antioxidant enzymes expression, redox proteomic studies

betaine/atrophie

Betaine and Peroxisome Biogenesis Disorders

EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment

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