Ataxia TelangiectasiaPhase 2NCT04870866
NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia
A Phase 2 study testing Nicotinamide ribonucleoside in people with Ataxia Telangiectasia, run by University Hospital, Akershus at 2 sites in Norway.
Trial summary
The study investigates the effect of dietary supplementation of nicotinamide ribonucleoside (NR) in children with ataxia telangiectasia (AT), with main focus on neurological symptoms. Read more about this study
- Who is it for?
- Ages 3 years and older
- Conditions the study is for
- Ataxia Telangiectasia
- What is being tested?
- Nicotinamide ribonucleoside
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 13 participants
- Where
- 2 sitesNorway
- Study dates
- 5 Jun 2019to 16 Jun 2027
- Phase
- Phase 2
- Are there results?
- Not yet: the study is under way
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 3 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- clinically and molecular verified classical A-T disease
Who cannot join
- less than 2 years of age
- participation in other on-going study
- pregnancy
- liver failure
- other severe medical conditions considered to set patient at risk
Trial locations and contacts
2 sites in 1 country.
About this study
The study investigates the effect of dietary supplementation of nicotinamide ribonucleoside (NR) in children with ataxia telangiectasia (AT), with main focus on neurological symptoms.
Read the detailed description
Ataxia Telangiectasia (AT) is a genetic disease, where patients are born with mutations in the Ataxia- Telangiectasia Mutated (ATM) gene. The gene codes for the ATM kinase, which is required for repair of DNA double-stranded breaks and DNA damage response signalling.
There is no treatment available for the neurological manifestations of AT.
The study investigates the effects of NR (300 mg/day) during 2 years.
- Conditions
- Ataxia Telangiectasia
- Being tested
- Nicotinamide ribonucleoside
- Keywords
- ataxia telangiectasia, nicotinamide ribonucleoside, Louis-Bar syndrome
- Medical subject headings
- Ataxia Telangiectasia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Nicotinamide ribonucleosideDrug
Also called Niagen
Two year intervention
| Study group | Role | What they receive |
|---|---|---|
| NR treated | Experimental | Nicotinamide ribonuceloside (NR), sold under the trade name Niagen™ Receives: Drug: Nicotinamide ribonucleoside |
What is being measured
The primary outcome is the main question the study is designed to answer.
NAD metabolome
Increase of NAD+ and other stable NAD+ metabolites (referred to as the NAD metabolome) in blood
Measured: 2 years
Secondary outcomes (9)
Patient well being
Improved or stabilized health-related quality of life (HRQOL) measured with the Pediatric Quality of Life Inventory (PedSQL)
Measured: 2 years
Motoric function - The Scale for the Assessment and Rating of Ataxia (SARA)
Stabilized motoric function measured with SARA.
The SARA scale is made up of measurements related to gait, stance, sitting, speech, finger-chase test, nose-finger test, fast alternating movements and heel-shin test.
The range is from no ataxia (value 0) to severe ataxia (value 40).
Measured: 2 years
Motoric function - The International Cooperative Ataxia Rating Scale (ICARS)
Stabilized motoric function measured with ICARS.
The ICARS scale is made from measurements of postural and gait disturbances, limb ataxia, dysarthria, and oculomotor disorders.
The range is from no ataxia (value 0) to severe ataxia (value 100).
Measured: 2 years
Motoric function - Customized gait scale (GS)
Stabilized motoric function measured with GS.
The gait scale assess gait functionality in patients with Ataxia-telangiectasia.
The range is from no walking ability (value 0) to normal walking ability according to age and maturity (value 10).
Measured: 2 years
Motoric function - AT Neuro Examination Scale Toolkit, updated version (AT-NEST)
Stabilized motoric function measured with AT-NEST.
The AT-NEST scale is made from scoring of speech, handwriting/drawing, oculomotor, ataxia, muscle strength, neuropathy, growth, nutrition, learning ability/cognition, MS mental state.
The range is from normal (value 144) to severe ataxia (value 0).
Measured: 2 years
Motoric function - Clinical Global Scale rating instrument for A-T
Stabilized motoric function measured with Clinical Global Scale rating instrument for A-T.
The Clinical Global Scale rating instrument for A-T scale is made from scoring of gait ataxia, dysmetria, dysarthria, extrapyramidal movements and eye movements.
The range is from normal (value 0) to severe (value 4).
Measured: 2 years
Liver function
Normalized or stabilized liver function as assessed by blood levels of
-alfa fetoprotein (AFP)
Measured: 2 years
Blood sugar control
Normalized or stabilized blood sugar levels as measured in blood:
-HbA1c
Measured: 2 years
Mitochondrial function
Normalized or stabilized mitochondrial markers in blood:
- lactate
- lactate dehydrogenase
- FGF21
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 posted4 May 2021
- Study start5 Jun 2019
- Primary completion3 Sep 2024 (estimated)
- Study completion16 Jun 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Ataxia TelangiectasiaStudies 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
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Open label proof of concept
- Masking
- None (open label)
- Enrolment
- 13 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Akershus
- Sponsor type
- University, hospital or other
- Collaborators
- The Bergesen Foundation, South-Eastern Norway Regional Health Authority, Sykehuset Innlandet HF, Oslo University Hospital, St. Olavs Hospital, Haukeland University Hospital, University Hospital of North Norway, University of Bergen
- Responsible party
- Principal investigator, Hilde Nilsen, University Hospital, Akershus
- Investigators
- Hilde L Nilsen, Principal investigator, University Hospital, Akershus
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04870866
- Sponsor's protocol ID
- 2017/419
- Status last verified
- Aug 2022
- First submitted
- 23 Apr 2021
- Last updated
- 17 Aug 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Fang EF, Kassahun H, Croteau DL, Scheibye-Knudsen M, Marosi K, Lu H, Shamanna RA, Kalyanasundaram S, Bollineni RC, Wilson MA, Iser WB, Wollman BN, Morevati M, Li J, Kerr JS, Lu Q, Waltz TB, Tian J, Sinclair DA, Mattson MP, Nilsen H, Bohr VA. NAD+ Replenishment Improves Lifespan and Healthspan in Ataxia Telangiectasia Models via Mitophagy and DNA Repair. Cell Metab. 2016 Oct 11;24(4):566-581. doi: 10.1016/j.cmet.2016.09.004.
PubMed 27732836
Study at a glance
From the registry record, last updated by the sponsor on 17 Aug 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia
- ClinicalTrials.gov ID
- NCT04870866
- Acronym / sponsor ID
- 2017/419
- Conditions
- Ataxia Telangiectasia
- Keywords
- ataxia telangiectasia, nicotinamide ribonucleoside, Louis-Bar syndrome
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 13 participants (actual)
- Lead sponsor
- University Hospital, AkershusUniversity, hospital or other
- Collaborators
- The Bergesen Foundation, South-Eastern Norway Regional Health Authority, Sykehuset Innlandet HF, Oslo University Hospital, St. Olavs Hospital, Haukeland University Hospital, University Hospital of North Norway, University of Bergen
- Study start
- 5 Jun 2019 (actual)
- Primary completion
- 3 Sep 2024 (estimated)
- Study completion
- 16 Jun 2027 (estimated)
- First posted
- 4 May 2021 (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.
The study investigates the effect of dietary supplementation of nicotinamide ribonucleoside (NR) in children with ataxia telangiectasia (AT), with main focus on neurological symptoms.
Detailed description
Ataxia Telangiectasia (AT) is a genetic disease, where patients are born with mutations in the Ataxia- Telangiectasia Mutated (ATM) gene. The gene codes for the ATM kinase, which is required for repair of DNA double-stranded breaks and DNA damage response signalling.
There is no treatment available for the neurological manifestations of AT.
The study investigates the effects of NR (300 mg/day) during 2 years.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Open label proof of concept
| Arm | Type | Receives |
|---|---|---|
| NR treated | Experimental | Drug: Nicotinamide ribonucleosideNicotinamide ribonuceloside (NR), sold under the trade name Niagen™ |
Who may qualify
- Ages
- 3 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- clinically and molecular verified classical A-T disease
Key exclusion criteria (5 listed)
- less than 2 years of age
- participation in other on-going study
- pregnancy
- liver failure
- other severe medical conditions considered to set patient at risk
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Nicotinamide ribonucleosideAlso: NiagenTwo year intervention | Drug | NR treated |
Primary outcome
NAD metabolome
Time frame: 2 years
Increase of NAD+ and other stable NAD+ metabolites (referred to as the NAD metabolome) in blood
9 secondary outcomes
Patient well being
Time frame: 2 years
Motoric function - The Scale for the Assessment and Rating of Ataxia (SARA)
Time frame: 2 years
Motoric function - The International Cooperative Ataxia Rating Scale (ICARS)
Time frame: 2 years
Motoric function - Customized gait scale (GS)
Time frame: 2 years
Motoric function - AT Neuro Examination Scale Toolkit, updated version (AT-NEST)
Time frame: 2 years
Motoric function - Clinical Global Scale rating instrument for A-T
Time frame: 2 years
Liver function
Time frame: 2 years
Blood sugar control
Time frame: 2 years
Mitochondrial function
Time frame: 2 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Aug 2022.
- Background: PubMed 27732836Fang EF, Kassahun H, Croteau DL, Scheibye-Knudsen M, Marosi K, Lu H, Shamanna RA, Kalyanasundaram S, Bollineni RC, Wilson MA, Iser WB, Wollman BN, Morevati M, Li J, Kerr JS, Lu Q, Waltz TB, Tian J, Sinclair DA, Mattson MP, Nilsen H, Bohr VA. NAD+ Replenishment Improves Lifespan and Healthspan in Ataxia Telangiectasia Models via Mitophagy and DNA Repair. Cell Metab. 2016 Oct 11;24(4):566-581. doi: 10.1016/j.cmet.2016.09.004.
- 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.
Hilde L Nilsen principal investigator
University Hospital, Akershus
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Nicotinamide ribonucleoside in people with Ataxia Telangiectasia, run by University Hospital, Akershus at 2 sites in Norway.
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 1 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: under way, not looking for participants, as of the sponsor's last update on 17 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 Norway. 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.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
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?
NAD metabolome (time frame: 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04870866, which also lists 1 linked publication.
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 17 Aug 2022.