An observational study in Infantile Globoid Cell Leukodystrophy, sponsored by Zymenex A/S. Completed at 1 site in United States. Open to participants aged Up to 2 Years. Per ClinicalTrials.gov, last updated 2018-03-08.
Sponsored by Zymenex A/S (part of Chiesi Farmaceutici S.p.A.) · Observational
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.
Infantile globoid cell leukodystrophy (GLD, or Krabbe disease) is a rare, inherited degenerative disorder of the central and peripheral nervous systems. It is characterized by the presence of globoid cells (multinucleated cells), the breakdown of the nerve's protective myelin coating, and destruction of brain cells. Globoid cell leukodystrophy is one of a group of genetic disorders called the leukodystrophies. These disorders impair the growth or development of the myelin sheath, and causes severe degeneration of mental and motor skills. Myelin, which lends its color to the "white matter" of the brain, is a complex substance made up of a number of different glucoproteins and glucolipids, the most important of which is galactocerebroside. Each of the leukodystrophies affects one of these substances. Globoid cell leukodystrophy is caused by a deficiency of galactocerebroside ß-galactosidase (GALC), an essential enzyme for myelin metabolism. The disease most often affects infants, with onset before the age of 6 months, but can occur in adolescence or adulthood. Symptoms include irritability, unexplained fever, limb stiffness (hypertonia), seizures, feeding difficulties, vomiting, and slowing of mental and motor development. Other symptoms include muscle weakness, spasticity, deafness, and blindness.
There is no cure for globoid cell leukodystrophy. Generally, treatment for the disorder is symptomatic and supportive.
Infantile globoid cell leukodystrophy is generally fatal before age 2 years. Patients with juvenile- or adult-onset disease generally have a milder course of the disease and live significantly longer.
Globoid cell leukodystrophy is a autosomal recessive disorder with a wide geographic distribution. The incidence in the United States is estimated as 1 in 100.000 births. However, the incidence appears to be higher in the Scandinavian countries. 32 Swedish cases were reported during the period from 1953 through 1967 with calculated incidence at 1.9 per 100.000 births.
To be able to compare the benefits experienced by infants with globoid cell leukodystrophy, who receive a possible future treatment, to those untreated, a better understanding of the natural course of infantile GLD is necessary. The current literature contains only case studies of individual or small groups of GLD patients. A longitudinal study of a larger population of patients with infantile GLD has yet to be performed. This protocol is a 1.5 years longitudinal observational study to capture natural history data in patients with infantile GLD. This data will provide information on the range and diversity of clinical disease parameters that can in the future be used to evaluate treatment effects.
31 studies on the registry are indexed under Leukodystrophy, Globoid Cell; 8 are open to participants now.
This study's enrollment of 6 is below the median of 55 across 14 observational studies indexed under Leukodystrophy, Globoid Cell.
Browse Leukodystrophy, Globoid Cell studies →Zymenex A/S is the lead sponsor of 8 studies on the registry; none are open to participants now.
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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.
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Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Clinically significant
Judged by the study doctor to matter for your health or for the study. It is a doctor’s decision, so ask the study team if you are unsure whether something counts.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Investigational drug or device
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
This longitudinal observational study will collect information on patients diagnosed with infantile globoid cell leukodystrophy over approximately an 18-month period.
Time frame: 18 month
The record gives a start of Sep 2009, a primary completion of Jul 2014 and a completion of Jul 2014. It does not say whether these dates are actual or estimated.
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This study is completed, as verified in Mar 2018. You cannot join it, but the record below documents what was studied.
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Leukodystrophy, Globoid Cell →