Team NBIA Disorders reaches $30,000 goal for MDBR

June 2020

Team NBIA did it again! For the fourth consecutive year, the NBIA Disorders Association successfully met the goal set by the Million Dollar Bike Ride and will have $30,000 matched, dollar for dollar, by the University of Pennsylvania’s Orphan Disease Center.

The team’s efforts will result in a $60,000 grant for BPAN research to be awarded later this year. BPAN, which stands for Beta-propeller protein-associated neurodegeneration, has emerged as the most common NBIA disorder. The Million Dollar Bike Ride has been a big source of support for BPAN research, a priority of the NBIA Disorders Association, bringing in $130,000 in matching money alone from UPenn over the past three years. With this match, the BPAN grants will exceed $320,000.

Despite a global pandemic, the 7th Annual Million Dollar Bike Ride carried on. Virtually, of course. Originally set to take place in Philadelphia on June 13, this year’s ride was held in communities around the world to help rare disorders while maintaining social distancing amid COVID-19.

Florio family 
Steve and Kristi Florio from Boalsburg, PA
rode their bikes at Penn State University
as part of the virtual MDBR.
Their daughter Lia has BPAN and enjoyed
riding along with her father.

In all, 712 cyclists from 39 states, Germany, Canada and Australia pledged to ride 20,567 miles for a variety of rare disorders. Virtual riders could participate with a bike ride in their neighborhoods or on stationary bikes raising funds until June 30.

Our team had 26 cyclists and 10 families that created fundraising pages in addition to our main Team NBIA Disorders page. A shout out to Roselle and Jeff Guzman of Alexandria, Virginia, who jumped in and raised $10,581 in less than two weeks! Their daughter, Salia-Rose, was recently diagnosed with BPAN.

Our sister organization, Hoffnungsbaum e.V., led by Markus Nielbock, also created a fundraising page so that BPAN families in Germany could participate; they raised $2,500

For six weeks starting in May, MDBR organizers held challenges each week to keep interest high and encourage participation. The Ftikas family of Cranbury, N.J., whose daughter Lexi Fae has BPAN, won week three, which was a fundraising challenge, by raising $1,940, the most funds raised from any team that week. On June 13 there was a thank-you presentation for all MDBR teams followed by a virtual spin class for registered riders where many did their pledged miles. Team NBIA Disorders had six cyclists participating in the class, while others took to their neighborhoods to ride that day.

Matt and Josie Biking 
Matt Ritzman and his daughter Josie who has PLAN
participate in the virtual 2020 Million Dollar Bike Ride
and raise $1550 for BPAN research. 

Avid cyclist and NBIA board Chair Matt Ritzman of Oakland, California, said he had always wanted to take part in the ride and was thrilled to do so this year with his wife, Julie, and daughter, Josie, who has NBIA.

“I planned our ride,” he said recently. “There’s a 27-mile loop near my house that’s absolutely beautiful. It’s not easy; there are lots of hills and I was carrying Josie (on a tandem bike). But she’s a fun passenger to have aboard. She loves the wind blowing in her face, and she talks a lot when we’re out. I think it’s one of her favorite activities.”

The amount raised each year “is truly remarkable considering how rare this disorder is,” Ritzman said. “I think it can be attributed to how much we support each other. My daughter has PLAN, not BPAN, so she won’t be directly impacted by the research, but I feel just as much joy when we make progress with any of these disorders.”

2020 MDBR Video

2019 Million Dollar Bike Ride supporting BPAN stem cell project

June 2020

Thanks to money raised in last year’s Million Dollar Bike Ride, the NBIA Disorders Association is supporting a stem cell research project in Australia that will examine BPAN’s effects on the brain and drugs that could help treat the disorder.

Dr. Paul Lockhart of Murdoch Children’s Research Institute (MCRI) in Melbourne is leading the project and received a grant in February for $60,561 from the bike ride’s sponsoring organization, the University of Pennsylvania. Of that total, the NBIA community raised $30,561 and won the maximum match of $30,000 from the school’s Orphan Disease Center to study Beta-propeller Protein-Associated Neurodegeneration (BPAN).

Our organization was deeply involved in the grant-making process. We wrote the request for proposals, and members of our Scientific & Medical Advisory Board reviewed the applications and made recommendations. The University of Pennsylvania will manage the grant and send us a copy of the final scientific report that Lockhart’s team submits.

The project is titled “Development of novel human stem cell models of BPAN for disease modeling and drug screening,” and is being conducted by the Bruce Lefroy Centre, a genetics research unit at MCRI, where Lockhart is co-director. His co-investigators are Dr. Martin Delatycki and Dr. Jay Shukla.

Lockhart Australian families 

BPAN families in Australia meet with researchers
at the Murdoch Children’s Institute in Melbourne. 

The team has identified 11 individuals in Australia who have BPAN, ranging in age from toddlers to a 36-year-old. Most of them have agreed to donate their skin cells for the study. MCRI researchers will reprogram those cells using cutting-edge stem cell technologies to generate the kind of nerve cells affected by BPAN. This ‘brain in a dish’ model allows direct testing of how BPAN affects brain function and offers a way to rapidly screen large numbers of drugs for potential treatments.

The team will create neural networks that mimics the way nerve cells communicate with each other in the human brain. They hope these models will help them identify what causes specific neurons in the brain of BPAN-affected individuals to degenerate much earlier than in individuals without the disorder. In addition, the team will use the models to test drug compounds that might be effective in treating BPAN. Such studies are required before a potential treatment can move to a clinical trial in patients.

This research is part of a larger project launched in December 2019 with an anonymous $200,000 donation in honor of five-year old Angus Hunter, who has BPAN. The Hunter family lives in Melbourne and is active in raising awareness and funds for BPAN research, as well as providing support to BPAN families.

NBIA Disorders Association awards $45,000 for FAHN research in March

June 2020

The NBIA Disorders Association has awarded a $45,000 research grant to a team of German scientists studying stem cells in patients with the NBIA disorder known as FAHN.

Led by Dr. Andreas Hermann, along with Drs. Moritz Frech and Jiankai Luo of the University Medical Center Rostock, the team will create a model of FAHN, or Fatty Acid Hydroxylase-associated Neurodegeneration, in the lab, along with stem cells to better understand how the disease works. With that understanding, the researchers can advance to testing potential therapies to see whether they can reverse FAHN’s effects.

The team plans to create a supply of patient-specific induced pluripotent stem cells, which have the capacity to become any cell in the body. They can also self-renew, meaning that they divide and produce more stem cells.

To develop these stem cells in the lab, cells will be taken from the connective tissue of FAHN patients. Researchers will then use a gene-editing technology, CRISPR/Cas9, to add copies of certain genes to the cells, endowing them with a stem cell’s special characteristics. They can develop into central nervous system cells that may be affected by FAHN.

The researchers will team up with Dr. Sunita Venkateswaran, an assistant professor and pediatric neurologist at the University of Ottawa. She is well established in the field of NBIA and will collaborate with the team on the research.

The project is called "In vitro disease modeling of Fatty Acid Hydroxylase-associated Neurodegeneration (FAHN): Patient specific induced pluripotent stem cells and their neuronal derivatives as human models of FAHN.” It is being funded from March 1, 2020, through Feb. 28, 2021.


OHSU reports on plans to launch CoA-Z trial with help from grant

OHSU logoNovember 2019

NBIA researchers Drs. Susan Hayflick and Penny Hogarth recently announced that, thanks to added help from a federal grant, they will soon launch a clinical trial to test a compound, CoA-Z, in individuals with PKAN, a common form of NBIA.

The grant is from the Eunice Kennedy Shriver National Institute of Child Health and Human Development, part of the National Institutes of Health.

The CoA-Z compound will be tested in the U.S. and Canada to see if it corrects a metabolic process involved in producing coenzyme A in individuals with PKAN.

To prepare for the trial, the researchers recently did a study in a small number of PKAN adults and children who received CoA-Z under supervision at the Oregon Health & Sciences University, where the Hayflick and Hogarth Team is located. The information gained from this study was used to refine the dosing plan for the trial and help determine when blood samples should be collected.

The preliminary testing confirmed that CoA-Z was safe for PKAN individuals to take over the short period of the study.

In addition to the NIH grant that will fund the clinical trial over a period of several years, $2 million in donations has been raised from a variety of sources over the past two years to support the manufacturing and formulation of CoA-Z, database development and other costs not covered by the NIH grant. NBIA families held many fundraisers, with proceeds going to the nonprofit Spoonbill Foundation founded by Hayflick and Hogarth. Funds also came from Stichting Lepelaar, a nonprofit Drs. Ody Sibon and Hans Hektor set up in the Netherlands, the Dutch Foundation for Rare Diseases, and $50,000 from the NBIA Disorders Association.

The OHSU team led by Suh Young Jeong, PhD, in partnership with Sibon's group, recently published an article in the journal EMBO Molecular Medicine on CoA-Z, titled "4'-Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN." The article was based on a mouse model of PKAN. The researchers say this mouse is important because it is the first to show abnormal iron accumulation in the brain, as well as other PKAN changes.

These mice did not have any dystonia, but they had biochemical changes of PKAN in the same brain region as in people with PKAN. According to the article, after taking 4'-phosphopantetheine by mouth for two weeks, all of the PKAN biochemical changes in mouse brain improved.

Researchers also tested skin cells from people with PKAN, and the same biochemical changes were found. When the cells were bathed in 4'-phosphopantetheine, the changes resolved. The mouse experiments showed that 4'-phosphopantetheine is not degraded in the gastrointestinal tract and that it can cross the blood-brain barrier.

Sibon's group published a separate paper in the same journal issue titled, "CoA-dependent activation of mitochondrial acyl carrier protein links four neurodegenerative diseases," that reveals important insights into the biochemical changes in PKAN and related disorders. The researchers believe these two publications provide a solid foundation for launching studies of CoA-Z in people.

Information for this article was taken from http://nbiacure.org/coaz-clinical-trial/ where you can go for more information and updates on the clinical trial.



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

August 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.

Although the drug, Fosmetpantotenate, was observed to be generally safe and well-tolerated, the study found that it did not meet its primary or secondary endpoints, or outcome measures.

First, the study found no differences between those who received the drug and those who got the placebo. That determination was based on the extent to which individuals improved over the 24-week trial, based on a scale that measures activities of daily living, such as walking, eating and dressing. Those measures were specifically adapted for PKAN individuals using Part II of the comprehensive and widely referenced Unified Parkinson’s Disease Rating Scale.

Second, the study found no measurable change on the same scale’s Part III score, which evaluates motor function, including slowness, stiffness and balance.

No data suggested that a longer course of treatment would change the outcomes, nor were any differences seen between classic and later-onset PKAN individuals taking part in the trial.

“We are very disappointed in the topline results from the FORT Study, particularly because we have seen the devastating impact of PKAN on patients and their families, and a significant unmet need remains with no approved treatment option,” said Retrophin CEO Eric Dube, Ph.D. "We would like to thank the patients, their caregivers, study investigators and our employees, whose dedication made this study possible.”

The study gathered a significant amount of data, which is still being analyzed. Retrophin plans to present its findings at scientific meetings in the fall. It also will publish the findings in a peer-reviewed journal. Company officials said they hope the data will help inform future clinical studies for treating PKAN.



Deferiprone trial results produce positive findings for some with PKAN

August 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.

PKAN, or Pantothenate Kinase-Associated Neurodegeneration, and all other NBIA disorders share iron accumulation in the globus pallidus structure of the brain. It remains unclear, however, whether excess iron causes NBIA or is brought on by some other problem.

The results of the trial, which was funded by a European Union grant titled Treat Iron-Related Childhood-Onset Neurodegeneration, or TIRCON, were presented at the Tenth International NBIA Family Conference held May 30 to June 2 in Charleston, S.C. The findings were then published in the July issue of the medical journal, Lancet Neurology.

The lead investigator of the trial in the United States, Dr. Elliott Vichinsky of the University of California, San Francisco Benioff Children’s Hospital in Oakland, discussed the results at the conference. He said that older and younger PKAN individuals showed improvement with deferiprone in dystonia of the lower face and lower legs, as well as in cognitive functioning, especially memory. But the benefit in the younger children, who tend to have a faster-moving, more severe form of PKAN, “wasn’t statistically significant,” he said.

The 18-month trial, which ran from 2012 to 2015, involved 88 patients from the United States, Germany, Italy and England. The trial met the gold standard for research. It was randomized, with some patients getting deferiprone orally and others getting a placebo. Afterward, the trial was extended another 18 months, and the drug was made available to everyone who took part in the trial.

“The drug was well-tolerated, and the safety profile was very good,” Vichinsky told families at the conference.

But because the study did not meet a key goal — showing a statistically important improvement from deferiprone in all age groups — the U.S. Food and Drug Administration hasn’t yet approved it for PKAN. Consequently, Vichinsky encouraged interested families to contact the FDA to advocate for its approval.

To read the full article:

Published Article


To see his presentation, go to the YouTube channel for the NBIA Disorders Association conference here:

Watch Video



Two new grants awarded to BPAN researchers in January

April 2019

Two new BPAN grants were awarded in January from the University of Pennsylvania, with crucial input from the NBIA Disorders Association.

In both cases, the grants will enable researchers to build on their previous studies of BPAN, or Beta-Propeller Associated Neurodegeneration, which is fast becoming one of the most common forms of NBIA.

The money for the grants comes from last year’s Million Dollar Bike Ride held in May 2018 by the Orphan Disease Center at the University of Pennsylvania. For the second year in a row, BPAN family supporters rode and managed to qualify for a matching grant of $50,000 from UPenn. Because the riders raised slightly more than the required match, one-year grants of $51,020 each were awarded for the two new BPAN studies.

Our organization writes the request for proposals, and members of our Scientific & Medical Advisory Board review grant applications. The University of Pennsylvania manages the grants, and sends us copies of the scientific reports that grant recipients provide.

Hong Zhang
Dr. Hong Zhang of the Chinese Academy of Sciences in Beijing, has received a $51,020 grant for BPAN research. He is currently a visiting professor at the University of Massachusetts Medical School.

One new grant will go to Dr. Hong Zhang, who received a grant from the 2017 Million Dollar Bike Ride. Zhang will be able to continue his studies into the functions of the mutated WDR45 gene, which causes BPAN. Zhang, a visiting professor at the University of Massachusetts Medical School and a researcher at the Institute of Biophysics, Chinese Academy of Sciences, in Beijing titled his newest project, “Mechanistic study of WDR45/45B and their binding partner ATG2 in the autophagy pathway of neural cells.”

What that means is Zhang will be studying the role of the protein WDR45 that’s made by the WDR45 gene that causes BPAN. He also will study WDR45B, the protein for the WDR45B gene that causes another neurodevelopmental syndrome characterized by intellectual disability, spastic quadriplegia, epilepsy and cerebral hypoplasia. Specifically, he’ll be looking at the impact these proteins have in the neural pathway for autophagy, the natural, multi-step process by which the body recycles or cleans out certain toxic materials to maintain proper functioning and stability.

Read more ...

Two PKAN grants awarded this year in collaboration with sister groups

April, 2019

Lauriel Earley
Dr. Lauriel Earley from the University of North Carolina - Chapel Hill, will work on a PANK2 gene therapy for the treatment of PKAN in her newly awarded grant.

Two new grants to study PKAN were awarded early this year by the NBIA Disorders Association in collaboration with two of our European sister organizations, AISNAF in Italy and Hoffungsbaum e. V. in Germany.

These grants mark the first time all three NBIA groups have teamed up to fund research projects.

The organizations received 12 proposals, with eight focusing on PKAN, three on BPAN and one on MPAN. All were evaluated by an International Scientific Advisory Board made up of scientists and clinicians with expertise in the field of rare, neurodegenerative diseases, including NBIA. In a second step, the projects deemed worthy of funding were shared with a Lay Review Board consisting of parents and patient representatives. The lay group had the final say on which projects would be funded.

The members selected two PKAN studies. No proposals to study BPAN or MPAN met the funding standards, so a new call for proposals for these two disorders went out in March.

Read more ...

Three clinical trials are underway; two others are being planned

April, 2019

Possible treatments for two NBIA disorders are being tested in clinical trials that are either in progress or being planned for the near future.

The best known of these is the Retrophin Inc. trial for Pantothenate Kinase-Associated Neurodegeneration, or PKAN, now underway at 20 sites in the U.S., Canada and Europe. It is the first trial of a medication that targets the underlying causes of this disorder.

Fort Study logoRetrophin, based in San Diego, finished enrolling patients in December 2018, with approximately 82 PKAN patients between the ages of 6 and 65 years. The Fosmetpantotenate Replacement Therapy, or FORT study, is being conducted under a Special Protocol Assessment agreement. That means the U.S. Food and Drug Administration believes that the trial’s design is adequate to support the filing of a New Drug Application, assuming the results are favorable.

Read more ...

Collaborations will lead to 5 NBIA grant awards in early 2019

September 2018

The NBIA Disorders Association is collaborating on five grants that will be awarded early next year, three of which are dedicated to studying BPAN, the fastest-growing NBIA diagnosis. The other two disorders eligible for grants are MPAN and PKAN.

Researchers have been notified to submit applications for the grants this fall, and representatives of our organization will be involved in the award-selection process.

Our first call for applications is for two grants of $51,020 each to study BPAN, or Beta-propeller Protein-Associated Neurodegeneration. Those applications involve a two-step process: submitting a letter of intent, undergoing a review and being asked to submit a full application, due Oct. 15.

Read more ...

NBIA organization awards two grants for BPAN, including the first for an early-career researcher

September 2018

Seeking to attract more scientists to study NBIA, the NBIA Disorders Association this spring awarded it’s first-ever early-career grant to a researcher. That scientist will receive a total of $150,000 spread over two years to study BPAN.

 In addition, the organization awarded a one-year $45,000 grant to another BPAN researcher.

The recipient of the early career award is Dr. Young-Ah Seo, an assistant professor of nutritional biochemistry in the department of nutritional sciences at the University of Michigan School of Public Health in Ann Arbor. The NBIA Disorders Association board created this grant category to support highly promising early-career investigators as they transition from training to independence. The board hopes recipients will maintain an interested in the disorders and contribute substantially to NBIA discoveries throughout their careers.

Read more ...

Deadline looming to seek BPAN research grants

May 2018

Hurry! June 15 is the deadline to apply for NBIA Disorders Association research grants to study Beta-propeller Protein-Associated Neurodegeneration (BPAN).

The association plans to award two grants for BPAN research with money raised exclusively by BPAN families.

One is a $45,000 grant that is open to all scientists. The organization is interested in projects that have the potential to generate essential resources for the scientific community, advance knowledge about NBIA disease processes and produce preliminary data so that additional national and international funding can carry the work forward.

The other grant is for an early-career faculty investigator grant — our first such offering. Applicants must be within five years of their first faculty appointment, or the equivalent. The selected recipient would get up to $75,000 each year for two years, with an option for a third year, depending on progress.

This grant is intended to support highly promising but relatively new researchers as they transition from training to independence. The goal is to engage an investigator who will contribute substantially to this field for the duration of his or her career.

Read more ...

Scientists report on progress of current NBIA research projects

May 2018

One of the key activities of the NBIA Disorders Association is awarding research grants, most of it with money raised by our hardworking families.

The board of trustees receives invaluable help from our Scientific and Medical Advisory Board, which helps set research goals, evaluates proposals and monitors projects after the board funds them. In evaluating proposals, the advisory board puts greatest priority on new paths of study that could lead to a treatment or a cure.

Throughout the process, the advisory board follows high ethical standards. For example, researcher-advisers who submit a proposal or have a conflict of interest must state their conflict and recuse themselves from decision-making. After the board of trustees approve a grant, it holds grantees accountable for meeting deadlines, delivering the promised work and providing updates to share with families. These recipients must submit regular financial and scientific reports to our SMAB; payments are made in stages after those reports are submitted.

Since 2002, the trustees have funded 33 research grants totaling $1,290,914. The board also has funded research contracts totaling $357,408, Hayflick lab funding at $250,000 in 2009 (when it was in jeopardy of closing) and part of a clinical consensus treatment guide at $16,117. All told, that’s nearly $2 million for research.

Here are updates on recent grants the board awarded:

Read more ...

Nearly $150,000 in grants awarded for BPAN research

May 2018

Thanks to the fundraising efforts of BPAN families, research into this NBIA disorder is taking a leap forward this year with the award of three grants totaling $146,014.

Two of the grants went to Dr. Penelope Hogarth of the Oregon Health & Science University in Portland for a natural history study of Beta-propeller Protein-Associated Neurodegeneration, or BPAN. Our organization awarded her $45,000, and another $50,507 came from the University of Pennsylvania as a matching grant in collaboration with our organization.

Although an increasing number of BPAN individuals are being diagnosed, there is much to learn about how the disease progresses.

Read more ...

Hayflick, Hogarth and Sibon team moving ahead on one of two drugs for PKAN

November, 2017

Drs. Susan Hayflick, Penny Hogarth and Ody Sibon told PKAN families recently that they are working with two companies to create a PKAN drug to ensure sufficient amounts for a clinical trial.

Speaking with PKAN families via a Facebook live stream video Nov. 6, the researchers said they are hopeful the compound that they are calling CoA-Z will correct a metabolic process involved in producing coenzyme A, called CoA. CoA is involved in metabolism and is thought to be low in individuals with Pantothenate Kinase-Associated Neurodegeneration, the most common form of NBIA. In the PKAN mouse, CoA-Z does everything Hayflick, Hogarth and Sibon would want to see before moving their studies into a human clinical trial.

Read more ...

Board awards its first grants for FAHN research

August, 2017

The NBIA Disorders Association board in June awarded its first grants for two projects to research Fatty Acid Hydroxylase-associated Neurodegeneration, or FAHN, one of the NBIA disorders.

The grants were made possible by the fundraising efforts of the Engblom family from East Islip, N.Y. Parents Trevor and Gina, along with their son Kyle who has FAHN, worked tirelessly for over a year to raise the money.

Read more ...

First patients in Retrophin trial to receive drug targeting PKAN

October, 2017

In July, the first patients taking part in an international clinical trial on a possible treatment for PKAN, the most common NBIA disorder, received Retrophin Inc.’s drug, fosmetpantotenate, also known as RE-024.

This long-awaited launch of Phase 3 of the trial, which Retrophin delayed until manufacturing issues were resolved, will assess the safety and effectiveness of RE-024. If the San Diego-based company is successful, RE-024 would be the first medication targeting the underlying cause of PKAN, or Pantothenate Kinase-Associated Neurodegeneration. It could change the course of the disease.

Read more ...

Hayflick team announces work on 2 promising compounds for PKAN

August, 2017

Calling it “a big deal,” Dr. Susan Hayflick, who has been studying the NBIA disorders since the early 1990s, announced at the June family conference that her lab is working on two potential treatments for PKAN, the most common form of NBIA.

One is a previously approved U.S. Food and Drug Administration drug, which Hayflick didn’t name but said her lab had just begun testing in PKAN-impaired mice. It’s “pretty safe and inexpensive and available worldwide, but we have to see if it helps the mice” said Hayflick, a physician and researcher at the Oregon Health & Science University in Portland.

Read more ...

Million Dollar Bike Ride nets $101,014 for BPAN research

August, 2017

A cycling team representing the NBIA Disorders Association raised over $50,000 for BPAN research and will have the full amount matched for taking part in the University of Pennsylvania Health System’s fourth annual Million Dollar Bike Ride for rare disorders.

Penn Medicine is now requesting letters of interest by Sept. 18, 2017, from the international scientific community for grants to study the diseases designated by the riders at the May bike ride in Philadelphia. Full applications are accepted by invitation only after letters of interest are reviewed.

Read more ...

Retrophin recruiting for PKAN drug study

Retrophin logo

May 4, 2017

The NBIA Disorders Association posts the following announcement for informational purposes only. While the organization supports and encourages the discovery of treatments for NBIA individuals and willingly posts information concerning research studies (such as questionnaires and clinical trial enrollment), we do not endorse specific studies. Nor do we advise NBIA individuals or their families to take part in a particular study. Rather, we believe that those decisions are best made by affected individuals and/or their families, in collaboration with their doctors.

Retrophin Inc. has begun to recruit patients for its planned clinical trial for PKAN patients.

The company plans to test a drug, fosmetpantotenate, the new name for RE-O24, to see if it can help patients with the most common NBIA disorder, PKAN. Retrophin had hoped to begin the study late last year, but a manufacturing problem caused a delay until now.

Read more ...

Retrophin announces delay in starting RE-024 trial

Retrophin logo


The NBIA Disorders Association posts the following announcement for informational purposes only. While the organization supports and encourages the discovery of treatments for NBIA individuals and willingly posts information concerning research studies (such as questionnaires and clinical trial enrollment), we do not endorse specific studies. Nor do we advise NBIA individuals or their families to take part in a particular study. Rather, we believe that those decisions are best made by affected individuals and/or their families, in collaboration with their doctors.

Retrophin recently informed the NBIA Disorders Association that the phase three trial of its PKAN drug, RE-024, is being delayed because of a manufacturing problem.

The trial’s placebo - often called a sugar pill because some patients will get it rather than the drug -“did not meet the stringent quality standards necessary for a clinical trial,” said Tricia Sterling, executive director of patient care at Retrophin.

The company had planned to start dosing patients by end of 2016 but now must correct the manufacturing issue so that the trial can proceed safely and generate high-quality clinical data, she said.

Delays in starting clinical trials are common for a variety of reasons.

Read more ...

Next round of NBIA research grants to focus on BPAN and FAHN


Families who raised money for studies on two NBIA disorders, BPAN and FAHN, will soon see a focus on the diseases when the NBIA Disorders Association solicits a new round of study proposals.

Within the next few months, the association expects to specifically ask for grant applications that address research priorities for BPAN and FAHN.

The association’s Scientific & Medical Advisory Board is in the process of setting research priorities for Beta-propeller Protein-Associated Neurodegeneration (BPAN) and Fatty-Acid Hydroxylase-associated Neurodegeneration (FAHN). Those priorities will be used to guide research proposal requests, and the grants will be awarded as soon as possible in 2017.

Read more ...

Identifying NBIA research priorities key topic at meeting of families, researchers and board

AUGUST, 2016

As the NBIA community grows with more disorders under its umbrella, the organization’s research agenda also is evolving as some families seek more attention—and dollars—for their loved one’s disorder.

That was among the topics discussed by families, the NBIA Disorders Association board and its Scientific & Medical Advisory Board at a meeting on research priorities. It was held during the association’s 20th anniversary celebration in the Cincinnati area.

Read more ...

Two more researchers join association’s Scientific & Medical Advisory Board

JULY, 2016

A group of researchers, physicians and technology executives who provide scientific and medical advice to the NBIA Disorders Association has added two new members, bringing the total to seven.

Read more ...

Researchers in Portland host first-ever meeting with BPAN families

JUNE, 2016
By Matt Dyer and Meg Talley Dyer

For the first time, researchers at the Oregon Health and Science University hosted a meeting in Portland for BPAN families so they could share information, take biological samples and introduce families whose loved ones share the same disorder.

Read more ...


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