Ciliopathy

Eloxx Announces Publication of Scientific Manuscript on ELX-02 in the Journal of Cystic Fibrosis

Retrieved on: 
Tuesday, February 9, 2021
Medical specialties, Kidney diseases, Clinical medicine, Channelopathies, Rare diseases, Autosomal dominant disorders, Ciliopathy, Autosomal dominant polycystic kidney disease, Cystic fibrosis, Genetic disorder, Polycystic kidney disease, Genetic heterogeneity

These data support our current Phase 2 clinical trial for ELX-02 in cystic fibrosis patients with G542X nonsense alleles, for whom there are few, if any, treatment options available.

Key Points: 
  • These data support our current Phase 2 clinical trial for ELX-02 in cystic fibrosis patients with G542X nonsense alleles, for whom there are few, if any, treatment options available.
  • ELX-02 is in the early stages of clinical development focusing on cystic fibrosis.
  • Eloxx also has preclinical programs focused on kidney diseases including autosomal dominant polycystic kidney disease, as well as rare ocular genetic disorders.
  • Forward-looking statements involve inherent risks and uncertainties, most of which are difficult to predict and are generally beyond our control.

Mirum Pharmaceuticals Honors Alagille Syndrome Awareness Day with Launch of Disease Awareness Campaign

Retrieved on: 
Sunday, January 24, 2021
Infectious diseases, Health, Science, Pharmaceutical, Research, Medical specialties, Digestive diseases, Clinical medicine, Hepatology, Alagille syndrome, Ciliopathy, Syndromes affecting the heart, Primary biliary cholangitis, Cholestasis facies, JAG1, Alagille syndrome, Mirum

Mirum Pharmaceuticals, Inc. (Nasdaq: MIRM) today announced the launch of a disease awareness campaign for Alagille syndrome (ALGS), a rare cholestatic liver disease affecting one in every 30,000 births worldwide.

Key Points: 
  • Mirum Pharmaceuticals, Inc. (Nasdaq: MIRM) today announced the launch of a disease awareness campaign for Alagille syndrome (ALGS), a rare cholestatic liver disease affecting one in every 30,000 births worldwide.
  • This disease awareness campaign has the potential to help healthcare providers recognize Alagille syndrome in their patients in order to properly address this rare disease, said Roberta Smith, president of the Alagille syndrome Alliance and parent of a child with ALGS.
  • As we celebrate International Alagille Syndrome Awareness Day, we will focus on sharing Alagille syndrome family stories that emphasize the critical need for continued research and treatment options for patients worldwide.
  • Alagille syndrome Awareness Day January 24, 2021
    Mirum is also proud to champion the Alagille syndrome Alliance and their ongoing work to support ALGS families through education, outreach, and community.

Albireo Recognizes International Alagille Syndrome Awareness Day 2021

Retrieved on: 
Friday, January 22, 2021
Medical specialties, Clinical medicine, Organ systems, Hepatology, Alagille syndrome, Ciliopathy, Syndromes affecting the heart, Daniel Alagille, Liver

BOSTON, Jan. 22, 2021 (GLOBE NEWSWIRE) -- Albireo Pharma, Inc.(Nasdaq: ALBO), a clinical-stage rare liver disease company developing novel bile acid modulators, today joins the Alagille community in commemorating the second annual International Alagille Syndrome Awareness Day on January 24, 2021 in honor of Dr. Daniel Alagille's birthday.

Key Points: 
  • BOSTON, Jan. 22, 2021 (GLOBE NEWSWIRE) -- Albireo Pharma, Inc.(Nasdaq: ALBO), a clinical-stage rare liver disease company developing novel bile acid modulators, today joins the Alagille community in commemorating the second annual International Alagille Syndrome Awareness Day on January 24, 2021 in honor of Dr. Daniel Alagille's birthday.
  • Alagille syndrome Alliance (ALGSA) is an international advocacy group representing patients and families.
  • To recognize International Alagille Syndrome Awareness Day, the organization will be hosting a 24-hour Aware-A-Thon with the objective of connecting families in raising awareness of ALGS through sharing stories via social media.
  • In honor of our families, International Alagille Syndrome Awareness Day is a day to elevate the patient voice, with focus on disease awareness and highlighting Alagille education resources for all stakeholders as well as new families stepping into this complex rare disease diagnosis.

Eloxx Announces Two Preclinical Abstracts Accepted for Presentation at the 2020 North American Cystic Fibrosis Virtual Conference in October

Retrieved on: 
Wednesday, August 26, 2020
Medical specialties, Kidney diseases, Clinical medicine, Channelopathies, Ciliopathy, Rare diseases, Polycystic kidney disease, Genetic disorder, Autosomal dominant polycystic kidney disease, Polycystic disease, Cystic fibrosis

The two abstracts will be showcased in the NACFC virtual poster gallery and electronically published as a supplement to Pediatric Pulmonology.

Key Points: 
  • The two abstracts will be showcased in the NACFC virtual poster gallery and electronically published as a supplement to Pediatric Pulmonology.
  • These virtual posters will be available to registered attendees on the NACFC online conference platform starting on October 7, 2020.
  • We are advancing our Phase 2 clinical trials for ELX-02 in cystic fibrosis in Europe, Israel and the U.S., and we believe the data from our preclinical programs substantially de-risk this program.
  • Eloxx also has preclinical programs focused on kidney diseases including autosomal dominant polycystic kidney disease, as well as rare ocular genetic disorders.

2020 Alagille Syndrome Epidemiology Forecast to 2030 - ResearchAndMarkets.com

Retrieved on: 
Monday, August 17, 2020
Biotechnology, General Health, Pharmaceutical, Health, Medical specialties, Clinical medicine, Hepatology, Organ systems, Syndromes affecting the heart, Alagille syndrome, Ciliopathy, RTT, Cholestasis facies

The disease epidemiology covered in the report provides historical as well as forecasted Alagille syndrome symptoms epidemiology segmented as the Total Prevalent cases of Alagille syndrome, Gender-specific cases of Alagille syndrome, Age-specific cases of Alagille syndrome.

Key Points: 
  • The disease epidemiology covered in the report provides historical as well as forecasted Alagille syndrome symptoms epidemiology segmented as the Total Prevalent cases of Alagille syndrome, Gender-specific cases of Alagille syndrome, Age-specific cases of Alagille syndrome.
  • The report provides the segmentation of the Alagille syndrome epidemiology by Prevalent Cases of Alagille syndrome in 7MM.
  • The report provides the segmentation of the Alagille syndrome epidemiology by Gender-specific Prevalent Cases of Alagille syndrome in 7MM.
  • The report provides the segmentation of the Alagille syndrome epidemiology by Age-specific Prevalent Cases of Alagille syndrome in 7MM.

Alagille Syndrome Industry to 2030 - Insights, Epidemiology, and Market Forecast - ResearchAndMarkets.com

Retrieved on: 
Tuesday, August 11, 2020
Genetics, Health, Other Health, Medical specialties, Clinical medicine, Organ systems, Hepatology, Alagille syndrome, Ciliopathy, Syndromes affecting the heart

The "Alagille Syndrome (ALGS) - Market Insights, Epidemiology, and Market Forecast - 2030" report has been added to ResearchAndMarkets.com's offering.

Key Points: 
  • The "Alagille Syndrome (ALGS) - Market Insights, Epidemiology, and Market Forecast - 2030" report has been added to ResearchAndMarkets.com's offering.
  • The Alagille Syndrome (ALGS) market report provides current treatment practices, emerging drugs and their market share of the individual therapies, current and forecasted Alagille Syndrome (ALGS) symptoms market size from 2017 to 2030 segmented by seven major markets.
  • The report also covers current Alagille Syndrome (ALGS) symptoms treatment practice/algorithm, market drivers, market barriers and unmet medical needs to curate the best of the opportunities.
  • The Alagille Syndrome (ALGS) market report gives a thorough understanding of Alagille Syndrome (ALGS) symptoms by including details such as disease definition, symptoms, causes, physiology, and diagnosis.

Autosomal Dominant Polycystic Kidney Disease Pipeline Insights, 2020 - ResearchAndMarkets.com

Retrieved on: 
Thursday, July 2, 2020
Health, Other Health, Kidney diseases, Branches of biology, Medical specialties, Genetics, Ciliopathy, Polycystic kidney disease, Kidney, Autosomal dominant polycystic kidney disease, Polycystic disease, Autosome, Nephromegaly, Polycystin 2

A detailed picture of the Autosomal Dominant Polycystic Kidney Disease pipeline landscape is provided, which includes the disease overview and Autosomal Dominant Polycystic Kidney Disease treatment guidelines.

Key Points: 
  • A detailed picture of the Autosomal Dominant Polycystic Kidney Disease pipeline landscape is provided, which includes the disease overview and Autosomal Dominant Polycystic Kidney Disease treatment guidelines.
  • The assessment part of the report embraces in-depth Autosomal Dominant Polycystic Kidney Disease commercial assessment and clinical assessment of the Autosomal Dominant Polycystic Kidney Disease pipeline products from the pre-clinical developmental phase to the marketed phase.
  • The Autosomal Dominant Polycystic Kidney Disease report provides an overview of therapeutic pipeline activity and therapeutic assessment of the products by development stage, product type, route of administration, molecule type, and MOA type for Autosomal Dominant Polycystic Kidney Disease across the complete product development cycle, including all clinical and nonclinical stages.
  • It comprises of detailed profiles of Autosomal Dominant Polycystic Kidney Disease therapeutic products with key coverage of developmental activities, including technology, collaborations, licensing, mergers and acquisition, funding, designations and other product-related details
    Detailed Autosomal Dominant Polycystic Kidney Disease research and development progress and trial details, results wherever available, are also included in the pipeline study.

UK Respiratory Devices Market, Forecast to 2025 by Product, End-user and Company

Retrieved on: 
Thursday, April 16, 2020
Respiratory diseases, Ciliopathy, Infertility, Primary ciliary dyskinesia, Medical specialties, Clinical medicine, Medicine

The UK respiratory device market was valued at around $1.4 billion in 2018 and is estimated to grow at a CAGR of around 6.2% during the forecast period.

Key Points: 
  • The UK respiratory device market was valued at around $1.4 billion in 2018 and is estimated to grow at a CAGR of around 6.2% during the forecast period.
  • The UK respiratory device market is segmented on the basis of product and end-user.
  • The respiratory product segment is further sub-segmented into therapeutic devices, diagnosis and monitoring devices, and consumables and accessories.
  • UK based company, Circassia launched Niox Vero nasal mode in Europe for screening the primary ciliary dyskinesia in September 2017.

2020 Global Primary Ciliary Dyskinesia (PCD) Pipeline Landscape Overview

Retrieved on: 
Wednesday, February 19, 2020
Branches of biology, Ciliopathy, Infertility, Primary ciliary dyskinesia, Medical specialties, Cilium, PCD, Clinical medicine, DNAL1, RSPH9

DUBLIN, Feb. 19, 2020 /PRNewswire/ -- The "Primary Ciliary Dyskinesia (PCD) - Pipeline Insight, 2020" drug pipelines has been added to ResearchAndMarkets.com's offering.

Key Points: 
  • DUBLIN, Feb. 19, 2020 /PRNewswire/ -- The "Primary Ciliary Dyskinesia (PCD) - Pipeline Insight, 2020" drug pipelines has been added to ResearchAndMarkets.com's offering.
  • Primary Ciliary Dyskinesia (PCD) Pipeline Insight, 2020 outlays comprehensive insights of present clinical development scenario and growth prospects across the Primary Ciliary Dyskinesia (PCD) market.
  • A detailed picture of the Primary Ciliary Dyskinesia (PCD) pipeline landscape is provided, which includes the disease overview and Primary Ciliary Dyskinesia (PCD) treatment guidelines.
  • The assessment part of the report embraces in-depth Primary Ciliary Dyskinesia (PCD) commercial assessment and clinical assessment of the Primary Ciliary Dyskinesia (PCD) pipeline products from the pre-clinical developmental phase to the marketed phase.

Albireo Achieves Significant Milestones for Odevixibat Across Multiple Diseases

Retrieved on: 
Wednesday, January 29, 2020
Stars, Medical specialties, Astronomical objects, Alagille syndrome, Ciliopathy, Hepatology, Syndromes affecting the heart, Albireo

Following FDA input later this quarter, we plan to initiate a third odevixibat pivotal trial, in Alagille syndrome, later this year.

Key Points: 
  • Following FDA input later this quarter, we plan to initiate a third odevixibat pivotal trial, in Alagille syndrome, later this year.
  • We are a growing, energized and well-prepared organization, and look forward to 2020 being a transformational year for Albireo.
  • Patients randomized to odevixibat are being treated with high (120g/kg) or low (40g/kg) dose once-daily oral capsules or sprinkles.
  • Albireo expects top-line data from PEDFIC 1 in mid-2020 with potential first regulatory approval and odevixibat launch in the second half of 2021.