The Natural History of Infantile Globoid Cell Leukodystrophy

NCT00983879 | Completed

• 1 other identifier: rhGALC-01
• Study Type: observational
• Target: 6
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this natural history study is to understand more about the progression of infantile Krabbe disease, a very rare genetic disease. There is very little published longitudinal data with only anecdotal cases. This natural history study will be important in understanding the effect of future therapies that are presently in the preclinical phase.

Conditions

Infantile Globoid Cell Leukodystrophy

Keywords

Infantile globoid cell leukodystrophy; GLD; Krabbe disease; Natural History Study

Outcome Measures

Primary Outcomes (1)

• This longitudinal observational study will collect information on patients diagnosed with infantile globoid cell leukodystrophy over approximately an 18-month period.

  18 month

Eligibility Criteria

• Age: Up to 2 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Patients will be enrolled regardless of gender, race or ethnicity. Patients will be identified through clinical referrals from other physicians or medical centers and also those patients receiving clinical care at the Program for Neurodevelopmental Function in Rare Disorders.

You may qualify if:

• Informed consent obtained before any study-related activities. (Study-related activities are any procedure that would not have been performed during normal management of the subject)
• The patient must have a documented diagnosis of infantile globoid cell leukodystrophy with galactocerebroside ß-galactosidase (GALC) activity \< 0.50 nmol/h/mg protein and evidence of two pathogenic mutations in the GALC gene must be confirmed after the baseline visit
• The patient must have an age at the time of screening \< 2 years
• The patient's parent(s) and/or legal guardian must have the ability to comply with the clinical protocol

You may not qualify if:

• History of hematopoietic stem cell transplantation
• Presence of known clinically significant cardiovascular, hepatic, pulmonary or renal disease or other medical condition
• Presence of major congenital abnormality
• Any other medical condition or serious intercurrent illness, or extenuating circumstance that, in the opinion of the principal investigator, would preclude participation in the study
• Use of any investigational product within 30 days prior to study enrollment or currently enrolled in another study which involves clinical investigations
• The patient's parent(s) and/or legal guardian is unable to understand the nature, scope, and possible consequences of the study
• Patient is unable to comply with the protocol, i.e. inability to return for follow-up evaluations or otherwise unlikely to complete the study as determined by the principal investigator

Sponsors & Collaborators

• Zymenex A/S: lead

Study Sites (1)

Children's Hospital of Pittsburgh, 4401 One Children's Hospital Drive,4401 Penn Avenue

Pittsburgh, Pennsylvania, 15224, United States

Location

MeSH Terms

Conditions

Leukodystrophy, Globoid Cell

Condition Hierarchy (Ancestors)

Hereditary Central Nervous System Demyelinating Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Leukoencephalopathies; Demyelinating Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Maria L Escolar, MD

  NFRD Office, Pittsburgh, Pennsylvania, US

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 23, 2009
• First Posted: September 24, 2009
• Study Start: September 1, 2009
• Primary Completion: July 1, 2014
• Study Completion: July 1, 2014
• Last Updated: March 8, 2018

Record last verified: 2018-03

Locations

US (1)