Homocystinuria: Treatment With N-Acetylcysteine

NCT00483314 | Completed Phase 2

• 1 other identifier: #6-FY06-317
• Study Type: interventional
• Target: 5
• Locations: 1 country
• Sites: 2

Brief Summary

The purpose of this study is determine if oral N-acetylcysteine is effective in lowering homocysteine in individuals with homocystinuria.

Conditions

Homocystinuria

Outcome Measures

Primary Outcomes (1)

• Lowering plasma total homocysteine

  3 months

Secondary Outcomes (1)

• Change in flow-mediated dilatation of brachial artery

  3 months

Study Arms (1)

1

EXPERIMENTAL

Drug: N-acetylcysteine

Interventions

N-acetylcysteine DRUG

2 g p.o. BID x 60 days

Also known as: NAC

1

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Homocystinuria (lens dislocation and hyperhomocysteinemia)
• Age ≥ 18 (the age of majority in Canada)

You may not qualify if:

• Nursing mothers or pregnant women
• Chronic liver disease
• Taking nitrates
• Cystine stone formers
• History of active peptic ulcer disease
• Subjects receiving carbamazepine and metoclopramide
• Use of other products containing cysteine or N-acetylcysteine (e.g. nebulized NAC, cysteine supplements, methionine restriction)
• Hypersensitivity to any ingredient in the study product
• Clinically significant, abnormal laboratory test on screening (Visit 2)
• Other Criteria:
• Women of child-bearing capacity must be using an acceptable method of birth control and have a negative pregnancy test before being enrolled

Sponsors & Collaborators

• McGill University Health Centre/Research Institute of the McGill University Health Centre: lead
• March of Dimes: collaborator

Study Sites (2)

MUHC-Royal Victoria Hospital

Montreal, Quebec, H3A 1A1, Canada

Location

Royal Victoria Hospital

Montreal, Quebec, H3A 1A1, Canada

Location

Related Links

• funding agency

MeSH Terms

Conditions

Homocystinuria

Interventions

Acetylcysteine

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Hyperhomocysteinemia; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Cysteine; Amino Acids, Sulfur; Sulfur Compounds; Organic Chemicals; Amino Acids; Amino Acids, Peptides, and Proteins

Study Officials

• Brian M GILFIX, MD, PhD

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

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER

Study Record Dates

• First Submitted: June 5, 2007
• First Posted: June 7, 2007
• Study Start: November 1, 2007
• Primary Completion: December 1, 2008
• Study Completion: February 1, 2009
• Last Updated: February 18, 2009

Record last verified: 2009-02

Locations

CA (2)