English French German Italian Spanish
  • Rare Disease Day 2020

    Show your support for rare diseases on February 29, 2020!

    More Info

  • 7th International Symposium on NBIA & Related Disorders

    October 1-3, 2020 in Lausanne, Switzerland.

    More Info

  • Beacon of Hope Campaign

    Please help with our Beacon of Hope campaign for family support.


  • Conference Photos & Videos

    Tenth International NBIA Disorders Association Family Conference Videos and Photos.

    View & Watch

  • 1
  • 2
  • 3
  • 4


Clinical trial of Retrophin drug fails; Shows no benefit for PKAN patients

Retrophin logoAugust 2019

A much-anticipated drug therapy has failed to show any benefit for individuals affected with PKAN, or Pantothenate Kinase-Associated Neurodegeneration, one of the most common forms of NBIA.

The drug’s maker, Retrophin Inc., announced the disappointing results Aug. 22 for its Phase 3 Fosmetpantotenate Replacement Therapy, or FORT, study.

Seventy-eight PKAN individuals had completed the 24-week randomized, double-blind study, meaning that neither the patients nor the doctors knew who was randomly selected to get the drug or the placebo. At the end of the study, 76 patients decided to participate in the open-label program in which all received the drug.

Read Article

Retrophin CEO, Eric Dube, wrote a letter to the NBIA Disorders Association and NBIA community regarding the disappointing results of this clinical trial.

Read Letter



Deferiprone trial results produce positive findings for some with PKAN

Dr. VichinskyAugust 2019

The long-awaited results from the first international clinical trial for NBIA — testing deferiprone in individuals with PKAN — are in.

They show that the iron-chelating drug slowed the progression of the disorder in older patients with a later-onset, or atypical, form of PKAN, but did not have a similar benefit for younger patients with classic PKAN, which starts in early childhood.

In addition to those findings, the study showed that the drug successfully reduced the amount of accumulated iron in the brain for PKAN individuals, regardless of onset age.

Read More



Spoonbill Foundation Contract

Spoonbill logoMay 2019

NBIA Disorders Association recently signed a contract for $50,000 with the Spoonbill Foundation, a nonprofit founded by Drs. Susan Hayflick and Penny Hogarth from OHSU, to help support the design, build, and testing phases of the database for the upcoming CoA-Z clinical trial in PKAN. This database, built in an application called REDCap Cloud, will be structured to meet the highest FDA standards. The database will be customized to meet the exact needs of the study, including the necessary fields to collect data and track specimens and study product, and built-in checks to monitor the data quality and accuracy. Developing this type of sophisticated database will directly promote the success of the trial and pave the way for future steps beyond the trial.


Partners in Hope Monthly Giving

Ritzman family

Please consider becoming a "Partner in Hope" monthly giver.

Become a Partner in Hope

2019 Top-Rated Nonprofit Award

2019 Top-rated Nonprofit

We have been honored with one of the first Top-Rated Awards of 2019 from GreatNonprofits! We appreciate all of your contributions!

More Info

Drew and his mother walking down a hallway

NBIA Alliance

Donate Now

Connect with Us - NBIA Families and Friends

Sign-up for our Newsletter