Ignite Creation Date:
2024-05-06 @ 2:52 AM
Last Modification Date:
2024-10-26 @ 11:24 AM
Study NCT ID:
NCT02141503
Status:
COMPLETED
Last Update Posted:
2019-12-03
First Post:
2014-05-15
Brief Title:
Clinical Biomarkers in Alpha-mannosidosis
Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Clinical Biomarkers in Alpha-Mannosidosis
Status:
COMPLETED
Status Verified Date:
2019-11-29
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Background
- Alpha-mannosidosis is a rare inherited disorder It causes problems in many organs and tissues of the body It can occur in children and adults Because there is no treatment for this disease researchers want to find out more about it
Objective
- To learn more about Alpha-mannosidosis
Eligibility
- People ages 5-60 with Alpha-mannosidosis
Design
Participants will be recruited from patient support organizations and medical genetics clinics
Participants will have 3 study visits about once a year A final evaluation will be made after 3 years
Participants will have a medical history and a physical exam
Blood samples and a urine sample will be collected
Cerebrospinal fluid will be collected A small area of the lower back will be numbed with medicine A thin needle will be inserted between the spine bones About 2 tablespoons of spinal fluid will be removed
Brain magnetic resonance spectroscopy MRS scans will be done at each visit MRS uses a strong magnetic field and radio waves to take pictures of chemicals in the brain with a scanner The participant will lie on a table that can slide in and out of the cylinder While in the scanner the participant will hear loud knocking noises They will get earplugs or earmuffs to muffle the sound Medicines might be used to keep the participant asleep during the MRS
Participants will have a skin biopsy at the first visit only A small area of the participant s skin will be numbed A small circle of skin will be removed with a biopsy tool
- Alpha-mannosidosis is a rare inherited disorder It causes problems in many organs and tissues of the body It can occur in children and adults Because there is no treatment for this disease researchers want to find out more about it
Objective
- To learn more about Alpha-mannosidosis
Eligibility
- People ages 5-60 with Alpha-mannosidosis
Design
Participants will be recruited from patient support organizations and medical genetics clinics
Participants will have 3 study visits about once a year A final evaluation will be made after 3 years
Participants will have a medical history and a physical exam
Blood samples and a urine sample will be collected
Cerebrospinal fluid will be collected A small area of the lower back will be numbed with medicine A thin needle will be inserted between the spine bones About 2 tablespoons of spinal fluid will be removed
Brain magnetic resonance spectroscopy MRS scans will be done at each visit MRS uses a strong magnetic field and radio waves to take pictures of chemicals in the brain with a scanner The participant will lie on a table that can slide in and out of the cylinder While in the scanner the participant will hear loud knocking noises They will get earplugs or earmuffs to muffle the sound Medicines might be used to keep the participant asleep during the MRS
Participants will have a skin biopsy at the first visit only A small area of the participant s skin will be numbed A small circle of skin will be removed with a biopsy tool
Detailed Description:
Alpha-mannosidosis AMD is an inherited lysosomal storage disorder caused by mutations in the LAMAN gene which encodes lysosomal alpha-mannosidase and is characterized by neurodevelopmental delay mild immune deficiency facial and skeletal abnormalities hearing impairment intellectual disability muscle weakness and ataxia The progression of neuromuscular and skeletal deterioration is insidious occurring over several decades rendering most patients wheel-chair dependent No consistently successful treatment is available To better characterize the biochemical phenotype and natural history of this disorder we will study 15 patients with AMD ranging in age from five to 60 years recruited from Departments of Biochemical Genetics and Medical Genetics at university medical centers mainly in the US and Canada or referred by the Intl Society for Mannosidosis Related Diseases Participants in the study will visit the NIH Clinical Center 2-3 days on an outpatient basis and will undergo clinical and biochemical evaluations to establish reliable clinical
benchmarks and to identify cerebrospinal fluid biomarkers that could serve as candidate
surrogate markers of treatment effect in future clinical trials The protocol will take advantage of the NICHD Biomedical Mass Spectrometry Facility to generate CSF proteomic profiles Patients will also undergo MR spectroscopy under sedationanesthesia if appropriate in order to establish the phenotypic baseline and for possible utility as a guide for natural history andor treatment outcomes in future studies If the pre-clinical components of this proposal prove promising the prospect of a recombinant adeno-associated viral gene therapy trial involving a brain-directed intrathecal approach for AMD would be possible within 3 years
benchmarks and to identify cerebrospinal fluid biomarkers that could serve as candidate
surrogate markers of treatment effect in future clinical trials The protocol will take advantage of the NICHD Biomedical Mass Spectrometry Facility to generate CSF proteomic profiles Patients will also undergo MR spectroscopy under sedationanesthesia if appropriate in order to establish the phenotypic baseline and for possible utility as a guide for natural history andor treatment outcomes in future studies If the pre-clinical components of this proposal prove promising the prospect of a recombinant adeno-associated viral gene therapy trial involving a brain-directed intrathecal approach for AMD would be possible within 3 years
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 14-CH-0106 | None | None | None |