Leigh syndrome

Orphan designation: Cannabidiol Treatment of Leigh syndrome, 25/07/2023 Positive

Retrieved on: 
Sunday, February 4, 2024

Key facts

Key Points: 
  • Key facts
    - Active substance
    - Cannabidiol
    - Intended use
    - Treatment of Leigh syndrome
    - Orphan designation status
    - Positive
    - EU designation number
    - EU/3/23/2800
    - Date of designation
    - Sponsor
    Universitat Autònoma De Barcelona
    Patients' organisations
    For contact details of patients’ organisations whose activities are targeted at rare diseases, see:
    European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.
  • EU register of orphan medicines
    The list of medicines that have received an orphan designation in the EU is available on the European Commission's website:
    EMA list of opinions on orphan medicinal product designation
    EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:

Orphan designation: sildenafil citrate Treatment of Leigh syndrome, 13/10/2023 Positive

Retrieved on: 
Sunday, February 4, 2024

Key facts

Key Points: 
  • Key facts
    - Active substance
    - sildenafil citrate
    - Intended use
    - Treatment of Leigh syndrome
    - Orphan designation status
    - Positive
    - EU designation number
    - EU/3/23/2831
    - Date of designation
    - Sponsor
    Charite Universitaetsmedizin Berlin KöR
    Patients' organisations
    For contact details of patients’ organisations whose activities are targeted at rare diseases, see:
    European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.
  • EU register of orphan medicines
    The list of medicines that have received an orphan designation in the EU is available on the European Commission's website:
    EMA list of opinions on orphan medicinal product designation
    EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:

Orphan designation: Methyl 4-(2-acetamidoethylsulfanyl)-4-oxobutanoate Treatment of Leigh syndrome, 13/12/2023 Positive

Retrieved on: 
Sunday, February 4, 2024

EU/3/23/2867 - orphan designation for treatment of Leigh syndrome

Key Points: 
  • EU/3/23/2867 - orphan designation for treatment of Leigh syndrome
    Methyl 4-(2-acetamidoethylsulfanyl)-4-oxobutanoate
    OrphanHuman
    Abliva AB
    For contact details of patients’ organisations whose activities are targeted at rare diseases, see:
    European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.
  • The list of medicines that have received an orphan designation in the EU is available on the European Commission's website:
    EMA list of opinions on orphan medicinal product designation
    EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:

CHOP Researchers Develop Novel Method Using MRI to Study Diseases Modeled in Zebrafish

Retrieved on: 
Wednesday, September 20, 2023

PHILADELPHIA, Sept. 20, 2023 /PRNewswire/ -- Zebrafish have revolutionized research into a wide variety of rare and complex genetic diseases. In early development stages, their transparent bodies allow researchers to more easily study tissues and organs. However, studying organ-level defects in adult zebrafish presents a variety of challenges that prevent researchers from studying them at a microscopic level.

Key Points: 
  • In a new study, researchers from Children's Hospital of Philadelphia (CHOP) have developed a noninvasive method for conducting magnetic resonance imaging (MRI) in adult zebrafish.
  • In addition, zebrafish are often used to create models to study diseases because zebrafish share about 70% of genes found in humans.
  • While MRI has been used to study zebrafish, prior studies have been very limited and did not provide systematic organ-level analyses.
  • Zebrafish.

Khondrion announces sonlicromanol Phase IIb progress supporting Phase III development in MELAS spectrum disorders

Retrieved on: 
Tuesday, November 22, 2022

Sonlicromanol, Khondrions wholly-owned lead asset, is being investigated in the Phase IIb programme in adult patients with MELAS spectrum disorders as genetically confirmed by the m.3243A>G mutation in the mitochondrial DNA.

Key Points: 
  • Sonlicromanol, Khondrions wholly-owned lead asset, is being investigated in the Phase IIb programme in adult patients with MELAS spectrum disorders as genetically confirmed by the m.3243A>G mutation in the mitochondrial DNA.
  • In line with previous studies, sonlicromanol was found to be safe and well tolerated in the Phase IIb programme, with no serious adverse effects.
  • These longer-term patient data are, therefore, instrumental in providing valuable insights for the design of the upcoming Phase III trial.
  • One of the most advanced disease-modifying drug candidates for mitochondrial disease in development, sonlicromanol has recently completed a Phase IIb study in adult patients with m.3243A>G MELAS spectrum disorders.

Khondrion announces sonlicromanol Phase IIb progress supporting Phase III development in MELAS spectrum disorders

Retrieved on: 
Tuesday, November 22, 2022

Sonlicromanol, Khondrions wholly-owned lead asset, is being investigated in the Phase IIb programme in adult patients with MELAS spectrum disorders as genetically confirmed by the m.3243A>G mutation in the mitochondrial DNA.

Key Points: 
  • Sonlicromanol, Khondrions wholly-owned lead asset, is being investigated in the Phase IIb programme in adult patients with MELAS spectrum disorders as genetically confirmed by the m.3243A>G mutation in the mitochondrial DNA.
  • In line with previous studies, sonlicromanol was found to be safe and well tolerated in the Phase IIb programme, with no serious adverse effects.
  • These longer-term patient data are, therefore, instrumental in providing valuable insights for the design of the upcoming Phase III trial.
  • One of the most advanced disease-modifying drug candidates for mitochondrial disease in development, sonlicromanol has recently completed a Phase IIb study in adult patients with m.3243A>G MELAS spectrum disorders.

The Refined Medicine Institute of Nevada Announces Rapamycin Anti-Aging Therapy

Retrieved on: 
Wednesday, February 9, 2022

LAS VEGAS, Feb. 9, 2022 /PRNewswire/ --The Refined Medicine Institute of Nevada, a medical center and leading edge practice of regenerative medicine, is excited to announce the availability of Rapamycin anti-aging therapy to fight the effects of aging and inflammation.

Key Points: 
  • LAS VEGAS, Feb. 9, 2022 /PRNewswire/ --The Refined Medicine Institute of Nevada, a medical center and leading edge practice of regenerative medicine, is excited to announce the availability of Rapamycin anti-aging therapy to fight the effects of aging and inflammation.
  • Originally Rapamycin (aka Sirolimus) was utilized during kidney transplant procedures to prevent organs from being rejected.
  • In a study, Rapamycin, an mTOR inhibitor, extended the life span of a particular strain of mice nearly three-fold2.
  • Rapamycin has also been shown to be effective at slowing down aging in dogs, primates, and humans.

Taysha Gene Therapies Announces Publication of Positive Preclinical Data for TSHA-104 Demonstrating Therapeutic Potential in SURF1-associated Leigh Syndrome in Journal Molecular Therapy: Methods & Clinical Development

Retrieved on: 
Wednesday, September 15, 2021

There are currently no approved therapies to treat SURF1-associated Leigh syndrome.

Key Points: 
  • There are currently no approved therapies to treat SURF1-associated Leigh syndrome.
  • SURF1 is part of cytochrome c oxidase, a mitochondrial enzyme known as COX involved in the metabolic production of ATP.
  • Children with SURF1 deficiency have severely impaired COX activity and cannot generate ATP by aerobic respiration appropriately.
  • TSHA-104 is an AAV9-based gene replacement therapy encoding the human SURF1 protein that is administered intrathecally for the treatment of SURF1-associated Leigh syndrome.

Taysha Gene Therapies Announces Collaboration with AllStripes on SURF1-Associated Leigh Syndrome Clinical Development and Natural History

Retrieved on: 
Monday, January 4, 2021

The collaboration will focus on advancing the development of TSHA-104, an AAV9-based gene therapy product candidate in development for the treatment of SURF1-associated Leigh syndrome.

Key Points: 
  • The collaboration will focus on advancing the development of TSHA-104, an AAV9-based gene therapy product candidate in development for the treatment of SURF1-associated Leigh syndrome.
  • Taysha will utilize AllStripes clinical database to uncover new insights into disease progression and better inform selection of endpoints for clinical studies.
  • Taysha has brought together accomplished and knowledgeable gene therapy and CNS disease experts to develop potentially transformative therapies, said Nancy Yu, Co-founder and Chief Executive Officer of AllStripes.
  • SURF1 deficiency is a monogenic mitochondrial disorder and is the most common cause of cytochrome c oxidase deficient Leigh syndrome.

AllStripes Announces Collaboration with Taysha Gene Therapies for SURF1-Associated Leigh Syndrome Program

Retrieved on: 
Monday, January 4, 2021

The collaboration will focus on advancing the development of TSHA-104, an AAV9-based gene therapy in development for SURF1-associated Leigh syndrome, a deadly rare disease that primarily affects infants.

Key Points: 
  • The collaboration will focus on advancing the development of TSHA-104, an AAV9-based gene therapy in development for SURF1-associated Leigh syndrome, a deadly rare disease that primarily affects infants.
  • This collaboration will allow us to leverage the AllStripes technology platform to optimize our therapeutic strategy and to potentially accelerate the development of TSHA-104 in SURF1-associated Leigh syndrome, said RA Session, II, president, founder and chief executive officer of Taysha.
  • SURF1-associated Leigh syndrome typically presents during infancy or early childhood, and often results in death within a few years.
  • Taysha has brought together accomplished and knowledgeable gene therapy and CNS disease experts to develop potentially transformative therapies, said Nancy Yu, co-founder and chief executive officer of AllStripes.