Alpers Huttenlocher SyndromeAlpersNCT03034512
Alpers Huttenlocher Natural History Study
An observational study of Alpers Huttenlocher Syndrome, run by Columbia University at 2 sites in United States.
Trial summary
This is a natural history study of Alpers Huttenlocher Syndrome. Patients will be followed over time to assess clinical symptoms for the purpose of expanding knowledge of this disorder in the medical community. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Alpers Huttenlocher Syndrome
- How many people
- 2 participants
- Where
- 2 sitesUnited States
- Study dates
- Jan 2014to 27 Jul 2022
- 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: patients with Alpers Huttenlocher Syndrome (AHS) and their siblings
Who may be able to join
- All individuals of any age with confirmed Alpers Huttenlocher Syndrome (AHS) or siblings of confirmed AHS patients are eligible to participate. AHS requires the presence of polymerase gamma 1 (POLG) pathological mutations, either homozygous or compound heterozygote mutations, and the presence of epilepsy and either, developmental regression or hepatopathy. If POLG mutations are not demonstrated, AHS requires the presence of refractory seizures, developmental regression, and hepatopathy as well as two or more other clinical and laboratory findings including elevated cerebrospinal fluid (CSF) protein, neuroimaging showing lactate peaks, reduced N-acetyl aspartate with hyperintensities on T2/FLAIR in the thalamus and posterior head regions, optic atrophy/cortical blindness, quantitative mtDNA reduction (>30% ) in muscle and/or liver, non-specific electron transport chain (ETC) enzyme deficiencies.
- All patients must agree to participate in the North American Mitochondrial Disease Consortium (NAMDC) Clinical Registry
Who cannot join
- Patient does not have confirmed AHS and is not the sibling of a patient with confirmed AHS
- Not willing to participate in the NAMDC clinical Registry
Trial locations and contacts
2 sites in 1 country.
United States2 sites
Columbia University
New York, New York, 10032
Seattle Childrens Hospital
Seattle, Washington, 98105
About this study
Official title: Natural History Study of Alpers Huttenlocher Syndrome
This is a natural history study of Alpers Huttenlocher Syndrome. Patients will be followed over time to assess clinical symptoms for the purpose of expanding knowledge of this disorder in the medical community.
Read the detailed description
The study team will conduct outpatient visits to the medical center on a 6 month basis, or as patients are able. The patients or their caregivers will complete medical and symptom questionnaires.
- Conditions
- Alpers Huttenlocher Syndrome
- Medical subject headings
- Diffuse Cerebral Sclerosis of Schilder
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 |
|---|---|---|
| Patients with Alpers-Huttenlocher | Patients confirmed to have Alpers Huttenlocher Syndrome | |
| Siblings | Siblings of patients with Alpers Huttenlocher Syndrome |
What is being measured
The primary outcome is the main question the study is designed to answer.
onset age
age at onset of first symptom versus POLG mutation type
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Jan 2017 (estimated)
- Study startJan 2014
- Primary completion27 Jul 2022
- Study completion27 Jul 2022
Why it stopped: Research focus has changed.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Alpers Huttenlocher SyndromeStudies of the same condition, open and under way.
- More trials run by Columbia UniversityThe 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 2 participants (actual)
Sponsor and investigators
- Lead sponsor
- Columbia University
- Sponsor type
- University, hospital or other
- Collaborators
- Seattle Children's Hospital, National Institute of Neurological Disorders and Stroke (NINDS)
- Responsible party
- Principal investigator, Michio Hirano, MD, Columbia University
- Investigators
- Michio Hirano, MD, Principal investigator, Columbia UniversityRussell Saneto, MD, Study chair, Seattle Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03034512
- Sponsor's protocol ID
- AAAM9859
- Other IDs
- 2U54NS078059-04, 5U54NS078059-02
- Acronym
- Alpers
- Status last verified
- Jul 2022
- First submitted
- 25 Jan 2017
- Last updated
- 1 Aug 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: This study is a sub project under the North American Mitochondrial Disease Consortium. The de-identified data can be shared if investigators have Institutional Review Board (IRB) approval for a project that might include data from this study and if the NAMDC administration approves of the project
Study at a glance
From the registry record, last updated by the sponsor on 1 Aug 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History Study of Alpers Huttenlocher Syndrome
- ClinicalTrials.gov ID
- NCT03034512
- Acronym / sponsor ID
- Alpers / AAAM9859
- Conditions
- Alpers Huttenlocher Syndrome
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Research focus has changed.
- Enrolment
- 2 participants (actual)
- Lead sponsor
- Columbia UniversityUniversity, hospital or other
- Collaborators
- Seattle Children's Hospital, National Institute of Neurological Disorders and Stroke (NINDS)
- Study start
- Jan 2014 (actual)
- Primary completion
- 27 Jul 2022 (actual)
- Study completion
- 27 Jul 2022 (actual)
- First posted
- 27 Jan 2017 (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.
This is a natural history study of Alpers Huttenlocher Syndrome. Patients will be followed over time to assess clinical symptoms for the purpose of expanding knowledge of this disorder in the medical community.
Detailed description
The study team will conduct outpatient visits to the medical center on a 6 month basis, or as patients are able. The patients or their caregivers will complete medical and symptom questionnaires.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients with Alpers-Huttenlocher | – | –Patients confirmed to have Alpers Huttenlocher Syndrome |
| Siblings | – | –Siblings of patients with Alpers Huttenlocher Syndrome |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- patients with Alpers Huttenlocher Syndrome (AHS) and their siblings
Key inclusion criteria (2 listed)
- All individuals of any age with confirmed Alpers Huttenlocher Syndrome (AHS) or siblings of confirmed AHS patients are eligible to participate. AHS requires the presence of polymerase gamma 1 (POLG) pathological mutations, either homozygous or compound heterozygote mutations, and the presence of epilepsy and either, developmental regression or hepatopathy. If POLG mutations are not demonstrated, AHS requires the presence of refractory seizures, developmental regression, and hepatopathy as well as two or more other clinical and laboratory findings including elevated cerebrospinal fluid (CSF) protein, neuroimaging showing lactate peaks, reduced N-acetyl aspartate with hyperintensities on T2/FLAIR in the thalamus and posterior head regions, optic atrophy/cortical blindness, quantitative mtDNA reduction (>30% ) in muscle and/or liver, non-specific electron transport chain (ETC) enzyme deficiencies.
- All patients must agree to participate in the North American Mitochondrial Disease Consortium (NAMDC) Clinical Registry
Key exclusion criteria (2 listed)
- Patient does not have confirmed AHS and is not the sibling of a patient with confirmed AHS
- Not willing to participate in the NAMDC clinical Registry
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
onset age
Time frame: 2 years
age at onset of first symptom versus POLG mutation type
Results and safety
The study was stopped early (reason given: Research focus has changed.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Aug 2022.
- North American Mitochondrial Disease Consortium (NAMDC) Study SiteLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. This study is a sub project under the North American Mitochondrial Disease Consortium. The de-identified data can be shared if investigators have Institutional Review Board (IRB) approval for a project that might include data from this study and if the NAMDC administration approves of the project
Related trials for Alpers Huttenlocher Syndrome
RecruitingObservational study
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
Mitochondrial Disorders, Mitochondrial Genetic Disorders
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.
Michio Hirano, MD principal investigator
Columbia University
Russell Saneto, MD study chair
Seattle Children's Hospital
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Alpers Huttenlocher Syndrome, run by Columbia University at 2 sites 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 2 inclusion and 2 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: stopped early, as of the sponsor's last update on 1 Aug 2022. 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. 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 was stopped early (reason given: Research focus has changed.). Results are not available in the source record.
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?
onset age (time frame: 2 years). 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 1 Aug 2022.