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NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia

  • Clinicaltrials.gov identifier

    NCT04870866

  • Recruitment Status

    Active, not recruiting

  • First Posted

    May 4, 2021

  • Last update posted

    May 7, 2021

Study Description

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.

  • Condition or Disease:Ataxia Telangiectasia
  • Intervention/Treatment: Drug: Nicotinamide ribonucleoside
  • Phase: Phase 2

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

  • Study Type: Interventional
  • Actual Enrollment: 13 participants
  • Intervention Model: Single Group Assignment
  • Intervention Model Description: Open label proof of concept
  • Masking: None (Open Label) ()
  • Primary Purpose: Treatment
  • Official Title: NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia
  • Actual Study Start Date: June 2019
  • Estimated Primary Completion Date: February 2022
  • Estimated Study Completion Date: February 2027

Arms and interventions

Arm Intervention/treatment
Experimental: NR treated
Nicotinamide ribonuceloside (NR), sold under the trade name Niagen™
Drug: Nicotinamide ribonucleoside
Two year intervention

Outcome Measures

  • Primary Outcome Measures: 1. NAD metabolome [ Time Frame: 2 years ]
    Increase of NAD+ and other stable NAD+ metabolites (referred to as the NAD metabolome) in blood
  • Secondary Outcome Measures: 1. Patient well being [ Time Frame: 2 years ]
    Improved or stabilized health-related quality of life (HRQOL) measured with the Pediatric Quality of Life Inventory (PedSQL)
  • 2. Motoric function - The Scale for the Assessment and Rating of Ataxia (SARA) [ Time Frame: 2 years ]
    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).
  • 3. Motoric function - The International Cooperative Ataxia Rating Scale (ICARS) [ Time Frame: 2 years ]
    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).
  • 4. Motoric function - Customized gait scale (GS) [ Time Frame: 2 years ]
    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).
  • 5. Motoric function - AT Neuro Examination Scale Toolkit, updated version (AT-NEST) [ Time Frame: 2 years ]
    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).
  • 6. Motoric function - Clinical Global Scale rating instrument for A-T [ Time Frame: 2 years ]
    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).
  • 7. Liver function [ Time Frame: 2 years ]
    Normalized or stabilized liver function as assessed by blood levels of -alfa fetoprotein (AFP)
  • 8. Blood sugar control [ Time Frame: 2 years ]
    Normalized or stabilized blood sugar levels as measured in blood: -HbA1c
  • 9. Mitochondrial function [ Time Frame: 2 years ]
    Normalized or stabilized mitochondrial markers in blood: lactate lactate dehydrogenase FGF21

Eligibility Criteria

  • Ages Eligible for Study: 3 Years and older (Child, Adult, Older Adult)
  • Sexes Eligible for Study: All
  • Accepts Healthy Volunteers: No

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

Contacts and Locations

Contacts

Locations

Norway
Hilde Loge Nilsen
Lørenskog

Norway
Oslo University Hospital
Oslo

Sponsors and Collaborators

University Hospital, Akershus

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

Investigators

Principal Investigator: Hilde L Nilsen University Hospital, Akershus

More Information