SyringomyeliaNCT00004738
Genetic Analysis of the Chiari I Malformation
An observational study of Syringomyelia and Type I Arnold Chiari Malformation, run by National Institute of Neurological Disorders and Stroke (NINDS) at 2 sites in 2 countries.
Trial summary
The purpose of this study is to better understand the genetic factors related to the Chiari I malformation. In people with this abnormality, the lower part of the skull is smaller than normal. Read more about this study
- Who is it for?
- Ages 1 year and older
- Conditions the study is for
- Syringomyelia, Type I Arnold Chiari Malformation
- How many people
- 152 participants
- Where
- 2 sitesin 2 countries
- Study dates
- 4 Jun 2001to not given
- 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 1 year and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patient with a confirmed diagnosis of Chiari I malformation who has a family member with syringomyelia or Chiari I malformation, or family member of a patient with a confirmed diagnosis of Chiari I malformation.
Who may be able to join
- To be eligible for entry into the study, a candidate must meet the following criteria:
- Patient with a confirmed diagnosis of Chiari I malformation who has a family member with syringomyelia or Chiari I malformation, or
- Family member of a patient with a confirmed diagnosis of Chiari I malformation, AND
- There are at least two family members diagnosed with Chiari I malformation.
- If an adult, able to give informed consent; if a minor, has an adult who is legally responsible for the subject and who is able to give consent.
Who cannot join
- A candidate will be excluded if he/she:
- Has a contraindication to MRI scanning.
- Is unable to comprehend the risks of the testing.
- Is less than one year of age.
- Cannot undergo MRI scanning without sedation.
Trial locations and contacts
2 sites in 2 countries.
2 sites in 2 countries
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
The purpose of this study is to better understand the genetic factors related to the Chiari I malformation. In people with this abnormality, the lower part of the skull is smaller than normal. As a result, the lowest part of the brain, called the cerebellar tonsils, protrudes out of the hole at the bottom of the skull into the spinal canal. This study will try to discover the location of the genes responsible for the malformation.
Candidates for this study are: 1) Patients with Chiari I malformation who also have a family member with the abnormality or a family member with syringomyelia (a cyst in the spinal cord that is often associated with the Chiari I malformation). 2) Family members of patients with the Chiari I malformation.
Participants will have a medical history and physical and neurologic examinations. They will undergo magnetic resonance imaging (MRI) of the brain and cervical (neck) spinal cord to measure the size of the head and determine the presence of the Chiari I malformation and syringomyelia. A small blood sample (about 2 tablespoons) will be drawn for DNA studies relating to the Chiari I malformation.
Read the detailed description
Objectives: The goal of this study is to establish family pedigrees and undertake genetic linkage analysis that will identify gene loci associated with the Chiari I malformation and underdevelopment of the bone forming the posterior cranial fossa.
Study Population: Patients and family members of patients with the Chiari I malformation. Because the research institutions are located in the United States and Russia, subjects will be recruited predominantly from these countries.
Design: Human subjects will undergo 1) neurologic examinations, 2) head and cervical MRI scans to evaluate for the Chiari I malformation, syringomyelia, and maldevelopment of the posterior fossa, and 3) isolation and analysis of genomic DNA from whole blood for linkage analysis.
Outcome Measures: Pedigrees will be established based on the MRI findings. The Chiari I phenotype will be defined as the caudal portion of the cerebellar tonsils lying greater than or equal to 2 mm below the foramen magnum and underdevelopment of the bone of the posterior fossa will be defined as 1) obliteration of the CSF pathways in the inferior portion of the posterior fossa, 2) posterior fossa volume to supratentorial volume ratio of less than or equal to 15%, or 3) abnormal shortening of the bones of the skull base. Genetic analysis of the genomic DNA will be performed with DNA polymorphic markers to identify chromosomal loci linked to the small posterior fossa phenotype. A lod score of 3.0 (equivalent to 1000:1 odds in favor of linkage) will be taken as proof that the Chiari I gene maps to the same genetic region of the human genome as a given DNA marker.
- Conditions
- Syringomyelia, Type I Arnold Chiari Malformation
- Keywords
- Arnold Chiari Malformation, Skeletal Dysplasia, Syringomyelia, Genetics, Natural History
- Medical subject headings
- Syringomyelia, Arnold-Chiari Malformation, Mucopolysaccharidosis IV
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Family Members | At least 2 family members of a patient with a confirmed diagnosis of Chiari I malformation. | |
| Patients | Patient with a confirmed diagnosis of Chiari I malformation who has a family member with syringomyelia or Chiari I malformation |
What is being measured
The primary outcome is the main question the study is designed to answer.
Family Pedigree/Genetic Linkage
Establish family pedigrees and undertake genetic linkage analysis that will identify gene loci associated with the Chiari I malformation andunderdevelopment of the bone forming the posterior cranial fossa.
Measured: ongoing
Genetic Analysis
Genetic analysis of the genomic DNA will be performed with DNA polymorphic markers to identify chromosomal loci linked to the Chiari I and small posterior fossa phenotype.
Measured: Genetic Analysis ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Feb 2000 (estimated)
- Study start4 Jun 2001
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for SyringomyeliaStudies of the same condition, open and under way.
- More trials run by National Institute of Neurological Disorders and Stroke (NINDS)The sponsor's other registered studies.
- 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
- Family based
- Time perspective
- Prospective
- Enrolment
- 152 participants (actual)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- John D Heiss, M.D., Principal investigator, National Institute of Neurological Disorders and Stroke (NINDS)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00004738
- Sponsor's protocol ID
- 000089
- Other IDs
- 00-N-0089
- Status last verified
- 22 Jan 2026
- First submitted
- 26 Feb 2000
- Last updated
- 5 Nov 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Analysis of the Chiari I Malformation
- ClinicalTrials.gov ID
- NCT00004738
- Acronym / sponsor ID
- 000089
- Conditions
- Syringomyelia, Type I Arnold Chiari Malformation
- Keywords
- Arnold Chiari Malformation, Skeletal Dysplasia, Syringomyelia, Genetics, Natural History
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 152 participants (actual)
- Lead sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)US National Institutes of Health
- Study start
- 4 Jun 2001 (actual)
- First posted
- 28 Feb 2000 (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 study is to better understand the genetic factors related to the Chiari I malformation. In people with this abnormality, the lower part of the skull is smaller than normal. As a result, the lowest part of the brain, called the cerebellar tonsils, protrudes out of the hole at the bottom of the skull into the spinal canal. This study will try to discover the location of the genes responsible for the malformation.
Candidates for this study are: 1) Patients with Chiari I malformation who also have a family member with the abnormality or a family member with syringomyelia (a cyst in the spinal cord that is often associated with the Chiari I malformation). 2) Family members of patients with the Chiari I malformation.
Participants will have a medical history and physical and neurologic examinations. They will undergo magnetic resonance imaging (MRI) of the brain and cervical (neck) spinal cord to measure the size of the head and determine the presence of the Chiari I malformation and syringomyelia. A small blood sample (about 2 tablespoons) will be drawn for DNA studies relating to the Chiari I malformation.
Detailed description
Objectives: The goal of this study is to establish family pedigrees and undertake genetic linkage analysis that will identify gene loci associated with the Chiari I malformation and underdevelopment of the bone forming the posterior cranial fossa.
Study Population: Patients and family members of patients with the Chiari I malformation. Because the research institutions are located in the United States and Russia, subjects will be recruited predominantly from these countries.
Design: Human subjects will undergo 1) neurologic examinations, 2) head and cervical MRI scans to evaluate for the Chiari I malformation, syringomyelia, and maldevelopment of the posterior fossa, and 3) isolation and analysis of genomic DNA from whole blood for linkage analysis.
Outcome Measures: Pedigrees will be established based on the MRI findings. The Chiari I phenotype will be defined as the caudal portion of the cerebellar tonsils lying greater than or equal to 2 mm below the foramen magnum and underdevelopment of the bone of the posterior fossa will be defined as 1) obliteration of the CSF pathways in the inferior portion of the posterior fossa, 2) posterior fossa volume to supratentorial volume ratio of less than or equal to 15%, or 3) abnormal shortening of the bones of the skull base. Genetic analysis of the genomic DNA will be performed with DNA polymorphic markers to identify chromosomal loci linked to the small posterior fossa phenotype. A lod score of 3.0 (equivalent to 1000:1 odds in favor of linkage) will be taken as proof that the Chiari I gene maps to the same genetic region of the human genome as a given DNA marker.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Family Members | – | –At least 2 family members of a patient with a confirmed diagnosis of Chiari I malformation. |
| Patients | – | –Patient with a confirmed diagnosis of Chiari I malformation who has a family member with syringomyelia or Chiari I malformation |
Who may qualify
- Ages
- 1 year and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patient with a confirmed diagnosis of Chiari I malformation who has a family member with syringomyelia or Chiari I malformation, or family member of a patient with a confirmed diagnosis of Chiari I malformation.
Key inclusion criteria (5 listed)
- Patient with a confirmed diagnosis of Chiari I malformation who has a family member with syringomyelia or Chiari I malformation, or
- Family member of a patient with a confirmed diagnosis of Chiari I malformation, AND
- There are at least two family members diagnosed with Chiari I malformation.
- If an adult, able to give informed consent; if a minor, has an adult who is legally responsible for the subject and who is able to give consent.
Key exclusion criteria (5 listed)
- Has a contraindication to MRI scanning.
- Is unable to comprehend the risks of the testing.
- Is less than one year of age.
- Cannot undergo MRI scanning without sedation.
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
Family Pedigree/Genetic Linkage
Time frame: ongoing
Establish family pedigrees and undertake genetic linkage analysis that will identify gene loci associated with the Chiari I malformation andunderdevelopment of the bone forming the posterior cranial fossa.
Genetic Analysis
Time frame: Genetic Analysis ongoing
Genetic analysis of the genomic DNA will be performed with DNA polymorphic markers to identify chromosomal loci linked to the Chiari I and small posterior fossa phenotype.
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 5 Nov 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
Related trials for Syringomyelia
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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.
John D Heiss, M.D. principal investigator
National Institute of Neurological Disorders and Stroke (NINDS)
2 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Syringomyelia and Type I Arnold Chiari Malformation, run by National Institute of Neurological Disorders and Stroke (NINDS) at 2 sites in 2 countries.
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 5 inclusion and 5 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 5 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States, Russia. 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?
Family Pedigree/Genetic Linkage (time frame: ongoing). The study lists 2 primary outcomes in all. 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 5 Nov 2026.