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Clinical Trials & Research Studies Bulletin Board

The NBIA Disorders Association posts the information at this link 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.

October, 2017
First patients in Retrophin trial to receive drug targeting PKAN

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.


People with PKAN cannot make enough of an essential enzyme, pantothenate kinase 2 (PANK2). This enzyme is needed to turn vitamin B5 into an important substance involved in metabolism called Coenzyme A, a lack of which is believed to cause PKAN symptoms. The drug delivers phosphopantothenate to cells, which could help restore the PANK2 enzyme, and, in turn, boost Coenzyme A levels.

RE-024 has been granted orphan drug designation by the U.S. Food and Drug Administration and the European Commission, as well as expedited “fast track” status in the U.S. to facilitate its development and the review process.

The study is being called Fosmetpantotenate Replacement Therapy, or FORT. It follows the gold-standard for a clinical trial, which means that neither the patients nor the doctors know who is getting the drug and who is getting a placebo, or sugar pill.

Retrophin plans to enroll 82 people diagnosed with PKAN between the ages of 6 and 65. Participants must not need a ventilator, cannot have had a deep brain stimulation device implanted within six months and must not have taken deferiprone for 30 days.

After the initial six months of testing, all study participants will have the chance to take the drug.

Right now, four North America study sites are open for enrollment: Massachusetts General Hospital in Boston, Emory University in Decatur, Ga., Children’s Hospital of Pittsburgh, and Rush Movement Disorders Group in Chicago. Dr. Aleksandar Videnovic, from Massachusetts General Hospital, is the lead principal investigator for the U.S. sites, which will be expanded to six or eight, including one on the west coast.

The European arm of the study will enroll patients at multiple sites in Europe this fall and will be led by Dr. Thomas Klopstock at the University of Munich, Germany. He also was the lead investigator for the TIRCON deferiprone study, which has been completed. Final results are being analyzed.

For more information on the FORT study, go to www.clinicaltrials.gov or visit the study’s website at www.pkanfortstudy.com.


May 4, 2017
Retrophin recruiting for PKAN drug study

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.

In the clinical trial, which takes its name from the drug and is being called the FORT Study, Retrophin plans to recruit 82 people diagnosed with PKAN in North America and Europe. Eligible patients must range in age from 6 to 65, be able to breathe without a ventilator, must be off of deferiprone for 30 days and cannot have had a deep brain stimulation device implanted within the past six months.

For information about the study, trial sites and screening requirements for participants, visit www.pkanfortstudy.com. Information about the study is also available on www.clinicaltrials.gov.


October, 2016
Health Questionnaire

Retrophin, a company working on a drug to treat individuals with PKAN, is seeking 33 patients and caregivers to help it gain a better understanding of how PKAN affects their daily lives.

The company has hired a consulting firm, Evidera, to interview PKAN individuals and caregivers using a health questionnaire and phone interviews. Retrophin is developing a potential treatment for individuals with PKAN, and the health questionnaire will be used in this program. Retrophin won’t receive the names of questionnaire participants to maintain patient confidentiality throughout the process.

To take part in the questionnaire, PKAN patients must be 16 or older. Eligible caregivers must be at least 18 and caring for a PKAN patient who is at least 6 years old. If you are an eligible patient or caregiver and want to participate, call Evidera toll-free at 800-257-8560. You will need to leave your name and number, with a good time to reach you. Participants will be compensated for their time.

If you aren’t sure about taking part but want to learn more about the questionnaire, contact Regina Buachie at Evidera at 240-235-2429 or via email at PKAN@evidera.com.

 

 

 

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