Pantothenate kinase-associated neurodegeneration

Burjeel Holdings to Launch Rare Disease Research & Development Project ‘NADER’ in Partnership with US-based BridgeBio Pharma

Retrieved on: 
Wednesday, July 12, 2023

ABU DHABI, United Arab Emirates and PALO ALTO, Calif., July 12, 2023 (GLOBE NEWSWIRE) -- Burjeel Holdings, one of the largest healthcare providers in the MENA region, and BridgeBio Pharma, Inc., a commercial-stage biopharmaceutical company focused on genetic diseases and cancers, have announced a new project to revolutionize the field of early diagnosis and treatment of rare diseases or disorders in the UAE and the region. The two entities signed a preliminary, non-binding Collaboration Agreement establishing a mutual intention to work together on project ‘NADER’ (Needs Assessment and Therapeutics Development for Rare Diseases – ‘nader’ meaning ‘rare’ in Arabic). Genetic in origin, these often life-threatening or chronically debilitating diseases affect a small percentage of the population and are present throughout the person's entire life, even if symptoms do not immediately appear. The partnership will launch operations in Abu Dhabi to conduct clinical trials and research, leveraging the Emirate’s advanced infrastructure for innovation and life science.

Key Points: 
  • The partnership will launch operations in Abu Dhabi to conduct clinical trials and research, leveraging the Emirate’s advanced infrastructure for innovation and life science.
  • Project ‘NADER’ aims to revolutionize the field of early diagnosis and treatment in order to potentially improve patient outcomes.
  • Dr. Khaled Musallam, Group Chief Research Officer of Burjeel Holdings and project lead said, “Many rare diseases are highly clustered in our region due to our unique genetic pool.
  • As the collaboration unfolds, both Burjeel Holdings and BridgeBio anticipate significant progress in the field of rare diseases in the region.

BridgeBio Pharma Presents Positive Phase 1 Data in Healthy Volunteers, Advancing Development of BBP-671 for Pantothenate Kinase-Associated Neurodegeneration (PKAN) and Organic Acidemias

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Thursday, May 26, 2022

PALO ALTO, Calif., May 26, 2022 (GLOBE NEWSWIRE) -- BridgeBio Pharma, Inc. (Nasdaq: BBIO) (“BridgeBio” or the “Company”), a commercial-stage biopharmaceutical company focused on genetic diseases and cancers, today announced interim Phase 1 data from healthy volunteers, supporting the development of BBP-671 for potential treatment of pantothenate kinase-associated neurodegeneration (PKAN) and organic acidemias. The data are being shared in a scientific poster session at the Pan American Parkinson and Movement Disorders (PAS) Congress on May 26, 2022, in Miami, FL.

Key Points: 
  • BBP-671 is an investigational oral therapy designed to increase coenzyme-A (CoA) levels by allosterically modulating pantothenate kinases, key enzymes in the CoA biosynthesis pathway.
  • BBP-671 is being developed as a potential therapy for diseases in which CoA metabolism is deficient, including PKAN, propionic acidemia (PA), and methylmalonic acidemia (MMA).
  • PKAN is a rare neurological disorder characterized by progressively debilitating symptoms that begin in early childhood, including dystonia, rigidity, bradykinesia, dysphagia, visual impairment and dementia.
  • Moreover, we operate in a very competitive and rapidly changing environment in which new risks emerge from time to time.

Retrophin Announces Topline Results from Phase 3 FORT Study of Fosmetpantotenate in Patients with PKAN

Retrieved on: 
Thursday, August 22, 2019

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.

Key Points: 
  • 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.
  • We would like to thank the patients, their caregivers, study investigators and our employees, whose dedication made this study possible," said Eric Dube, Ph.D., chief executive officer of Retrophin.
  • "We will work closely with the investigators to further analyze the results of the study and share them with the PKAN community to contribute to the growing knowledge of this rare disorder."
  • The FORT Study was an international, randomized, double-blind, placebo-controlled, Phase 3 clinical trial assessing the safety and efficacy of fosmetpantotenate in 84 patients with PKAN.

Canadian-Developed Treatment Slows Progression of Debilitating Neurodegenerative Disorder

Retrieved on: 
Thursday, June 13, 2019

It is most severe when diagnosed in infants, but is equally debilitating in adults, although deterioration is at a slower rate.

Key Points: 
  • It is most severe when diagnosed in infants, but is equally debilitating in adults, although deterioration is at a slower rate.
  • During the study, 21 percent of the placebo group required additional medications for dystonia, while only 11 percent of the treatment group did.
  • "Although the clinical benefit for PKAN patients was quite limited, any slowing of disease progression in this devastating disorder is an important step," Klopstock said.
  • ApoPharma is focused on developing and commercializing products for patients with debilitating and life-threating diseases in which iron plays a role.

BridgeBio Pharma Launches CoA Therapeutics to Target Coenzyme-A for Rare Genetic Disorders

Retrieved on: 
Wednesday, June 13, 2018

PALO ALTO, Calif., June 13, 2018 /PRNewswire/ -- BridgeBio Pharma today announced the launch of CoA Therapeutics, a biopharmaceutical company developing novel small-molecules designed to increase Coenzyme-A (CoA) levels in genetic disorders where CoA deficiency is implicated.

Key Points: 
  • PALO ALTO, Calif., June 13, 2018 /PRNewswire/ -- BridgeBio Pharma today announced the launch of CoA Therapeutics, a biopharmaceutical company developing novel small-molecules designed to increase Coenzyme-A (CoA) levels in genetic disorders where CoA deficiency is implicated.
  • CoA Therapeutics' lead compound will be entering the clinic in 2019 with a planned initial focus on pantothenate kinase-associated neurodegeneration, or PKAN.
  • The PANK2 enzyme plays a critical role in the synthesis of CoA, which is crucial in energy metabolism and implicated in a large number of developmental disorders.
  • CoA Therapeutics, a subsidiary of BridgeBio Pharma, is developing a small molecule as a targeted therapeutic for PKAN.