Infantile Globoid Cell LeukodystrophyNCT00983879
The Natural History of Infantile Globoid Cell Leukodystrophy
An observational study of Infantile Globoid Cell Leukodystrophy, run by Zymenex A/S at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 2 years
- Conditions the study is for
- Infantile Globoid Cell Leukodystrophy
- How many people
- 6 participants
- Where
- 1 siteUnited States
- Study dates
- Sep 2009to Jul 2014
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 2 years
- All sexes
- No healthy volunteers
- Child
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.
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
United States1 site
Children's Hospital of Pittsburgh, 4401 One Children's Hospital Drive,4401 Penn Avenue
Pittsburgh, Pennsylvania, 15224
About this study
Official title: A Longitudinal Observational Study That Will Evaluate Prospectively Clinical and Surrogate Parameters That Are Affected in Infant Patients With Globoid Cell Leukodystrophy
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.
Read the detailed description
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.
- Conditions
- Infantile Globoid Cell Leukodystrophy
- Keywords
- Infantile globoid cell leukodystrophy, GLD, Krabbe disease, Natural History Study
- Medical subject headings
- Leukodystrophy, Globoid Cell
What is being measured
The primary outcome is the main question the study is designed to answer.
This longitudinal observational study will collect information on patients diagnosed with infantile globoid cell leukodystrophy over approximately an 18-month period.
Measured: 18 month
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Sep 2009 (estimated)
- Study startSep 2009
- Primary completionJul 2014
- Study completionJul 2014
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Infantile Globoid Cell LeukodystrophyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 6 participants (actual)
Sponsor and investigators
- Lead sponsor
- Zymenex A/S
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Maria L Escolar, MD, Principal investigator, NFRD Office, Pittsburgh, Pennsylvania, US
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00983879
- Sponsor's protocol ID
- rhGALC-01
- Status last verified
- Mar 2018
- First submitted
- 23 Sep 2009
- Last updated
- 8 Mar 2018
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Mar 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Longitudinal Observational Study That Will Evaluate Prospectively Clinical and Surrogate Parameters That Are Affected in Infant Patients With Globoid Cell Leukodystrophy
- ClinicalTrials.gov ID
- NCT00983879
- Acronym / sponsor ID
- rhGALC-01
- Conditions
- Infantile Globoid Cell Leukodystrophy
- Keywords
- Infantile globoid cell leukodystrophy, GLD, Krabbe disease, Natural History Study
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 6 participants (actual)
- Lead sponsor
- Zymenex A/SIndustry (pharma, biotech, devices)
- Study start
- Sep 2009
- Primary completion
- Jul 2014 (actual)
- Study completion
- Jul 2014 (actual)
- First posted
- 24 Sep 2009 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- Up to 2 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- 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.
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (7 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Mar 2018.
Related trials for Infantile Globoid Cell Leukodystrophy
Active, not recruitingPhase 1/2
Gene Transfer Clinical Trial for Infantile and Late Infantile Krabbe Disease Treated Previously With HSCT
Krabbe Disease
Active, not recruitingPhase 2
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
Mucopolysaccharidosis Disorders, Hurler Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Maria L Escolar, MD principal investigator
NFRD Office, Pittsburgh, Pennsylvania, US
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Infantile Globoid Cell Leukodystrophy, run by Zymenex A/S at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 8 Mar 2018. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Mar 2018.