Clinical trial NCT04870866: NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia
Official title: NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia
Study type: INTERVENTIONAL
Overall status: ACTIVE_NOT_RECRUITING
Phase: PHASE2
Conditions: Ataxia Telangiectasia
Keywords: ataxia telangiectasia
nicotinamide ribonucleoside
Louis-Bar syndrome
Lead sponsor: University Hospital, Akershus
Sponsor class: OTHER
Collaborators: name: The Bergesen Foundation
name: South-Eastern Norway Regional Health Authority
name: Sykehuset Innlandet HF
name: Oslo University Hospital
name: St. Olavs Hospital
name: Haukeland University Hospital
name: University Hospital of North Norway
name: University of Bergen
First posted: 2021-05-04
Enrollment: 13
Sex: ALL
Minimum age (years): 3
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Intervention model description: Open label proof of concept
Primary purpose: TREATMENT

Brief 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.

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.

Eligibility criteria: Inclusion Criteria:

* clinically and molecular verified classical A-T disease

Exclusion Criteria:

* 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

Primary outcomes:
measure: NAD metabolome
timeFrame: 2 years
Secondary outcomes:
measure: Patient well being
timeFrame: 2 years
measure: Motoric function - The Scale for the Assessment and Rating of Ataxia (SARA)
timeFrame: 2 years
measure: Motoric function - The International Cooperative Ataxia Rating Scale (ICARS)
timeFrame: 2 years
measure: Motoric function - Customized gait scale (GS)
timeFrame: 2 years
measure: Motoric function - AT Neuro Examination Scale Toolkit, updated version (AT-NEST)
timeFrame: 2 years
measure: Motoric function - Clinical Global Scale rating instrument for A-T
timeFrame: 2 years
measure: Liver function
timeFrame: 2 years
measure: Blood sugar control
timeFrame: 2 years
measure: Mitochondrial function
timeFrame: 2 years
Other outcomes:
Locations:
city: Lørenskog
country: Norway
facility: Hilde Loge Nilsen
city: Oslo
country: Norway
facility: Oslo University Hospital
Study officials:
affiliation: University Hospital, Akershus
name: Hilde L Nilsen
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.