A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy

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Brief Title

A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy

Official Title

A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy

Brief Summary

      In this pilot study, the investigators will assess the safety of two high-dose regimens of
      oral vitamin D supplementation and measure the effects of vitamin D supplementation on
      markers of oxidative stress and inflammation in the blood and brain of study participants
      before, during, and after taking vitamin D supplements.

      The goal of the study is to establish research measures (i.e. biomarkers) and an optimal dose
      for vitamin D supplementation in boys with the X-linked adrenoleukodystrophy (ALD) genotype.

Detailed Description

      Prior research suggests that higher vitamin D levels in the blood are associated with reduced
      brain inflammation among individuals with multiple sclerosis, a disease that is similar to
      the cerebral demyelinating form of ALD. However, serious side effects (e.g. hypercalcemia,
      kidney stones) can occur if vitamin D levels get too high.

      The current study is designed to establish a safe dose of vitamin D for boys with ALD.
      Although the doses chosen for this study are expected to be safe, the investigators will
      monitor participants for early signs of vitamin D-related toxicity. The investigators will
      also examine whether or not vitamin D supplementation affects markers of oxidative stress and
      inflammation in the blood and brains of ALD boys.

      The study requires participants to agree to at least one year of participation. Participants
      will be asked to take a vitamin D supplement every day, submit blood for analysis every 3
      months in the first year, and visit their study center (Stanford University or the Kennedy
      Krieger Institute) every 6 months throughout the period of study.

      Participants will be assigned a vitamin D dose based on bodyweight at entry. Starting doses
      will include 1,000 or 2,000 international units (IU) of vitamin D3 daily for a 6 month
      period, followed by a conditional increase to 2,000, 3,000, or 4,000 IU daily thereafter if
      vitamin D levels have not achieved a target threshold. The vitamin D supplements will be
      provided by the study. In keeping with the current standard of care for ALD boys aged 18mos -
      25 years, participants will need to visit the study site every six months in order to
      complete a clinic visit and MRI of the brain with gadolinium. As part of this study, however,
      participants' will need to submit blood work every 3 months during the first year in order
      for the study investigators to ensure that the participants' calcium and vitamin D levels are
      in a safe range and to study the effects of vitamin D on markers in the blood. The MRI
      protocol during the first year will also include one additional sequence (magnetic resonance
      spectroscopy) in order to measure brain metabolites.

      The data generated from this study are intended, in part, to help design a future,
      large-scale clinical trial to determine whether vitamin D supplementation is capable of
      reducing the risk of developing the cerebral demyelinating form of ALD.

Study Phase

Phase 1

Study Type


Primary Outcome

Percent of patients with a plasma 25-OH vitamin D level in the target range (40-80ng/ml) at 12 months

Secondary Outcome

 Correlation between appearance of gadolinium enhancing brain lesion on MRI and most recent plasma 25-OH vitamin D level


X-linked Adrenoleukodystrophy


vitamin D3

Study Arms / Comparison Groups

 Vitamin D3
Description:  Single-arm, dose-escalation starting at 1,000 IU or 2,000 IU of vitamin D3 daily for a 6 month period, followed by a conditional titration up to 4,000 IU daily for at least 6 months thereafter. No placebo.


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status

Dietary Supplement

Estimated Enrollment


Start Date

November 21, 2016

Completion Date

June 30, 2020

Primary Completion Date

June 30, 2020

Eligibility Criteria

        Criteria for enrollment to screening:

          1. Molecular confirmation of X-linked ALD (VLCFA elevation & ABCD1 mutation) known in
             patient or immediate family member)

          2. Male

          3. Age 1.5yrs (i.e. 18mos) - 25yrs at screening

        Criteria for assignment to drug:

          1. Plasma 25-hydroxy vitamin D level ≤ 60ng/ml in past 30 days

          2. MRI brain in past 6 months that is negative for evidence of active cerebral

        Exclusion Criteria:

          -  history of liver or kidney disease

          -  history of nephrolithiasis

          -  history of hyperthyroidism

          -  history of ulcerative colitis, Crohn's disease, celiac disease

          -  taking medication interfering with gastrointestinal absorption

          -  contraindication or inability to complete MRI every 6 months




18 Months - 25 Years

Accepts Healthy Volunteers



Keith Van Haren, MD, , 

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Secondary IDs


Responsible Party

Principal Investigator

Study Sponsor

Stanford University


 National Institute of Neurological Disorders and Stroke (NINDS)

Study Sponsor

Keith Van Haren, MD, Principal Investigator, Stanford University

Verification Date

June 2022