Infantile Neuroaxonal DystrophyNCT03999814
Natural History of Infantile Neuroaxonal Dystrophy
An observational study of Infantile Neuroaxonal Dystrophy and INAD, run by Biojiva LLC at 1 site in United States.
Trial summary
This is a retrospective and cross-sectional review of the natural history of INAD. Read more about this study
- Who is it for?
- Ages 18 months to 10 years
- Conditions the study is for
- Infantile Neuroaxonal Dystrophy, INAD
- How many people
- 13 participants
- Where
- 1 siteUnited States
- Study dates
- 30 Jul 2018to 27 Feb 2020
- 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 18 months to 10 years
- All sexes
- No healthy volunteers
- Child
Study population: Living or deceased males or females with a diagnosis of classic INAD between the ages of 18 months and 10 years of age.
Who may be able to join
- Male or female 18 months to 10 years of age
- Medical history consistent with the symptoms of classic INAD (onset of symptoms between the ages of 6 months and 3 years)
- Homozygous for PLA2G6 deficiency (variant alleles may be mixed heterozygotes)
- Signed informed consent form (ICF) prior to entry into the registry
Who cannot join
- Diagnosis of atypical NAD (ANAD)
- Unwilling or unable to allow medical record review
Trial locations and contacts
1 site in 1 country.
About this study
Official title: A Retrospective Review of the Natural History of Infantile Neuroaxonal Dystrophy
This is a retrospective and cross-sectional review of the natural history of INAD.
Read the detailed description
After obtaining informed consent, the study participants' relevant medical records will be collected and reviewed. If needed, a telephone or video conference will be scheduled with the patient's family to confirm and clarify information in the medical record. Deceased patients may be eligible for inclusion the retrospective registry if medical records are sufficient and indicate eligibility. Data will be pooled and presented in aggregate, without identification of individual subjects.
- Conditions
- Infantile Neuroaxonal Dystrophy, INAD
- Keywords
- Infantile Neuroaxonal Dystrophy, INAD, PLA2G6
- Medical subject headings
- Neuroaxonal Dystrophies
What is being measured
The primary outcome is the main question the study is designed to answer.
To describe the natural history of infantile neuroaxonal dystrophy (INAD).
Overall analysis
Measured: Birth to time of enrollment.
Secondary outcomes (2)
To look for trends in disease progression of INAD that may be helpful in planning future interventional trials in INAD.
Overall analysis
Measured: Birth to time of enrollment.
Evaluating and potentially validating a Assessment of Severity by Parent or Caregiver questionnaire.
In the questionnaire parents/caregivers are asked to score the child on a scale of 1 to 4 based on how often the child can perform 33 various activities of daily living. The individual scores are then added up to form a composite score of disease severity, with lower scores indicating higher severity and higher score indicating less disease progression.
Measured: At time of enrollment.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Jun 2019
- Study start30 Jul 2018
- Primary completion27 Feb 2020
- Study completion27 Feb 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Infantile Neuroaxonal DystrophyStudies 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
- Other
- Time perspective
- Retrospective
- Enrolment
- 13 participants (actual)
Sponsor and investigators
- Lead sponsor
- Biojiva LLC
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Peter Milner, MD, Principal investigator, Biojiva LLC
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03999814
- Sponsor's protocol ID
- RT-INAD-NH001
- Status last verified
- Jun 2019
- First submitted
- 25 Apr 2019
- Last updated
- 29 Jun 2020
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Jun 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Retrospective Review of the Natural History of Infantile Neuroaxonal Dystrophy
- ClinicalTrials.gov ID
- NCT03999814
- Acronym / sponsor ID
- RT-INAD-NH001
- Conditions
- Infantile Neuroaxonal Dystrophy, INAD
- Keywords
- Infantile Neuroaxonal Dystrophy, INAD, PLA2G6
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 13 participants (actual)
- Lead sponsor
- Biojiva LLCIndustry (pharma, biotech, devices)
- Study start
- 30 Jul 2018 (actual)
- Primary completion
- 27 Feb 2020 (actual)
- Study completion
- 27 Feb 2020 (actual)
- First posted
- 27 Jun 2019 (actual)
- 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 retrospective and cross-sectional review of the natural history of INAD.
Detailed description
After obtaining informed consent, the study participants' relevant medical records will be collected and reviewed. If needed, a telephone or video conference will be scheduled with the patient's family to confirm and clarify information in the medical record. Deceased patients may be eligible for inclusion the retrospective registry if medical records are sufficient and indicate eligibility. Data will be pooled and presented in aggregate, without identification of individual subjects.
Study design
- Observational model
- Other
- Time perspective
- Retrospective
Who may qualify
- Ages
- 18 months to 10 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Living or deceased males or females with a diagnosis of classic INAD between the ages of 18 months and 10 years of age.
Key inclusion criteria (4 listed)
- Male or female 18 months to 10 years of age
- Medical history consistent with the symptoms of classic INAD (onset of symptoms between the ages of 6 months and 3 years)
- Homozygous for PLA2G6 deficiency (variant alleles may be mixed heterozygotes)
- Signed informed consent form (ICF) prior to entry into the registry
Key exclusion criteria (2 listed)
- Diagnosis of atypical NAD (ANAD)
- Unwilling or unable to allow medical record review
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
To describe the natural history of infantile neuroaxonal dystrophy (INAD).
Time frame: Birth to time of enrollment.
Overall analysis
2 secondary outcomes
To look for trends in disease progression of INAD that may be helpful in planning future interventional trials in INAD.
Time frame: Birth to time of enrollment.
Evaluating and potentially validating a Assessment of Severity by Parent or Caregiver questionnaire.
Time frame: At time of enrollment.
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 29 Jun 2020.
- Individual participant dataSharing planned: No
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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.
Peter Milner, MD principal investigator
Biojiva LLC
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 Neuroaxonal Dystrophy and INAD, run by Biojiva LLC 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 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: finished, as of the sponsor's last update on 29 Jun 2020. 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?
To describe the natural history of infantile neuroaxonal dystrophy (INAD). (time frame: Birth to time of enrollment.). 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 29 Jun 2020.