Adult patients with homocystinuria due to cystathionine beta synthase (CBS) deficiency and controls will receive a single dose of Acetaminophen (1.5g) orally. Blood will be drawn at time 0, 2, 4, 6 and 8 hours after the acetaminophen dose.

Patients with homocystinuria due to cystathionine beta synthase (CBS) deficiency and controls will receive again a normal dose of acetaminophen (1.5g) orally and one hour later oral N-acetylcysteine (70 mg per kilogram of body weight). Blood will be drawn at time 0, 2, 4, 6 and 8 hours after the acetaminophen dose.

CBS Deficiency

Adult patients with homocystinuria due to cystathionine beta synthase (CBS) deficiency and controls will receive a single dose of Acetaminophen (1.5g) orally. Blood will be drawn at time 0, 2, 4, 6 and 8 hours after the acetaminophen dose to measure liver enzymes and markers of oxidative stress.

Acetaminophen

Patients with homocystinuria due to cystathionine beta synthase (CBS) deficiency and controls will receive again a normal dose of acetaminophen (1.5g) orally and one hour later oral N-acetylcysteine (70 mg per kilogram of body weight). Blood will be drawn at time 0, 2, 4, 6 and 8 hours after the acetaminophen dose to measure liver enzymes and markers of oxidative stress.

N-acetylcysteine

Hospital de Clínicas de Porto Alegre

Effect of Acetaminophen and N-Acetylcysteine on Liver Metabolism on Homocystinuria

Functional Consequences and Therapeutic Intervention in Hampered Production of Cysteine, Glutathione and Taurine in Classical Homocystinuria

A difference >30% between pre and pos Acetaminophen administration will be considered clinically significant.

A difference >30% between pre and pos measurements will be considered clinically significant.

Hospital de Clinicas de Porto Alegre

Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul, Brazil

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

homocystinuria/glutathione

Effect of Acetaminophen and N-Acetylcysteine on Liver Metabolism on Homocystinuria

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

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