Rare diseases

Sanofi provides update on venglustat clinical program

Retrieved on:

Tuesday, June 1, 2021

Rare diseases, Medical specialties, Lipid storage disorders, Clinical medicine, Kidney diseases, Health, Autosomal dominant polycystic kidney disease, Channelopathies, Polycystic kidney disease, Gangliosidosis, GM2 gangliosidoses, Sanofi

PARIS JUNE 1, 2021 A pivotal Phase 2/3 study of venglustat in autosomal dominant polycystic kidney disease (ADPKD) did not meet futility criteria, and the company has halted the clinical program in ADPKD.

Key Points:

PARIS JUNE 1, 2021 A pivotal Phase 2/3 study of venglustat in autosomal dominant polycystic kidney disease (ADPKD) did not meet futility criteria, and the company has halted the clinical program in ADPKD.
Sanofi has both completed and active studies evaluating venglustat in Gaucher diseasetype 3, Fabry disease and GM2 Gangliosidosis.
Venglustat is currently under clinical investigation and its safety and efficacy have not been evaluated by any regulatory authority.
With more than 100,000 people in 100 countries, Sanofi is transforming scientific innovation into healthcare solutions around the globe.

Ipsen Confirms U.S. FDA Accepts New Drug Application for Palovarotene as the First Potential Treatment Worldwide for Fibrodysplasia Ossificans Progressiva (FOP)

Retrieved on:

Friday, May 28, 2021

News of this potential new treatment will be welcomed by the FOP community, and we await further updates from the FDA.

Key Points:

News of this potential new treatment will be welcomed by the FOP community, and we await further updates from the FDA.
Palovarotene is an oral investigational, selective retinoic-acid receptor gamma (RAR) agonist being developed as a potential treatment for people living with the debilitating ultra-rare genetic disorder fibrodysplasia ossificans progressiva (FOP).
Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases.
An efficacy and safety study of palovarotene for the treatment of fibrodysplasia ossificans progressiva.

Ascendis Pharma A/S Invites the Public to Attend “A Story of Courage: Living with Hypoparathyroidism” in Support of World Hypopara Awareness Day on June 1, 2021

Retrieved on:

Friday, May 28, 2021

Rare diseases, Anatomy, Medical specialties, Branches of biology, Electrolyte disturbances, Glands, Parathyroid gland, Hypoparathyroidism, Parathyroid hormone, Hypocalcemia, Endocrine system, Endocrine disease

The live, online event seeks to raise awareness of hypoparathyroidism worldwide and share Ariana Feiners uplifting message of hope and inspiration to those affected by chronic illness.

Key Points:

The live, online event seeks to raise awareness of hypoparathyroidism worldwide and share Ariana Feiners uplifting message of hope and inspiration to those affected by chronic illness.
Hypoparathyroidism (HP) is a rare endocrine disorder characterized by insufficient levels of parathyroid hormone (PTH), resulting in low calcium and elevated phosphate levels in the blood.
Ascendis Pharma currently has a pipeline of three independent endocrinology rare disease product candidates and one oncology product candidate in clinical development.
Ascendis,Ascendis Pharma, theAscendis Pharmalogo, the company logo and TransCon are trademarks owned by theAscendis Pharma Group.

National Organization for Rare Disorders (NORD) Welcomes Edward Neilan, MD, PhD, as Chief Medical and Scientific Officer

Retrieved on:

Thursday, May 27, 2021

Rare disease, Rare diseases, Patient advocacy, National Organization for Rare Disorders, National Institutes of Health, Health sciences, Health, Articles

and DANBURY, Conn., May 27, 2021 /PRNewswire/ -- The National Organization for Rare Disorders (NORD), the leading patient advocacy organization dedicated to the identification, treatment and cure of rare diseases, announced the appointment ofEdward Neilan, MD, PhD, to the new position of Chief Medical and Scientific Officer.

Key Points:

and DANBURY, Conn., May 27, 2021 /PRNewswire/ -- The National Organization for Rare Disorders (NORD), the leading patient advocacy organization dedicated to the identification, treatment and cure of rare diseases, announced the appointment ofEdward Neilan, MD, PhD, to the new position of Chief Medical and Scientific Officer.
"Ed's collaborative and multifaceted work in rare diseases, including research, medical practice, clinical trial design and execution, academia, and his drive to care for rare disease patients, will greatly enhance our work.
In his role, Dr. Neilan will oversee the development and implementation of research activities to advance medical research and translational science for rare diseases.
The National Organization for Rare Disorders (NORD) is the leading independent advocacy organization representing all patients and families affected by rare diseasesinthe United States.

Abeona Therapeutics Issues Letter to Stockholders

Retrieved on:

Wednesday, May 26, 2021

Genodermatoses, Rare diseases, Collagen disease, Epidermolysis bullosa dystrophica, Health, Clinical medicine, Epidermolysis bullosa, Abeona, Sanfilippo syndrome, Branches of biology

NEW YORK and CLEVELAND, May 26, 2021 (GLOBE NEWSWIRE) -- Abeona Therapeutics Inc. (Nasdaq: ABEO), a fully-integrated leader in gene and cell therapy, today issued the following letter to stockholders in conjunction with the 2021 Abeona Therapeutics Annual Meeting of Stockholders to be held today, May 26, 2021:

Key Points:

NEW YORK and CLEVELAND, May 26, 2021 (GLOBE NEWSWIRE) -- Abeona Therapeutics Inc. (Nasdaq: ABEO), a fully-integrated leader in gene and cell therapy, today issued the following letter to stockholders in conjunction with the 2021 Abeona Therapeutics Annual Meeting of Stockholders to be held today, May 26, 2021:
We at Abeona remain committed to bringing urgently needed treatments to patients with recessive dystrophic epidermolysis bullosa (RDEB), and Sanfilippo syndrome types A and B (MPS IIIA and MPS IIIB, respectively).
Our strengthened board and management team represent a group of highly qualified and diverse executives who bring fresh perspectives, relevant operational expertise with life sciences companies and leadership experience to Abeona.
EB-101 has already shown durable healing of large, chronic RDEB wounds and associated pain reduction in a phase 1/2 clinical trial.
In conclusion, I would like to thank our stockholders for supporting our efforts and sharing in our lofty goals.

Spruce Biosciences Presents Phase 2 Data for Tildacerfont in Adults with Congenital Adrenal Hyperplasia at 23rd European Congress of Endocrinology

Retrieved on:

Monday, May 24, 2021

Administration of tildacerfont to these patients did not lead to significant changes in these levels.

Key Points:

Administration of tildacerfont to these patients did not lead to significant changes in these levels.
Tildacerfont has been evaluated in 171 patients across seven clinical trials in which it has been generally well tolerated.
Spruce Biosciences is a late-stage biopharmaceutical company focused on developing and commercializing novel therapies for rare endocrine disorders with significant unmet need.
Spruce is initially developing its wholly-owned product candidate, tildacerfont, as the potential first non-steroidal therapy for patients suffering from classic congenital adrenal hyperplasia (CAH).

Amicus Therapeutics Announces Upcoming Presentations at the 16th International Congress on Neuromuscular Diseases

Retrieved on:

Friday, May 21, 2021

Clinical medicine, Medicine, Health sciences, Orphan drugs, Rare diseases, Glycogen storage disease type II, Hepatology, Alglucosidase alfa, Amicus Therapeutics, Acid alpha-glucosidase, Pompe

b'PHILADELPHIA, May 21, 2021 (GLOBE NEWSWIRE) -- Amicus Therapeutics (Nasdaq: FOLD), today announced two posters for presentation highlighting its development program for Pompe disease at the 16th International Congress on Neuromuscular Diseases\xc2\xa0(ICNMD) being held virtually, May 21-22 and 28-29, 2021.\nEnhancing Delivery of Acid Alpha-Glucosidase to Skeletal Muscle in Pompe Disease: Key Challenges and Attributes of AT-GAA\nEfficacy and safety of cipaglucosidase alfa/miglustat versus alglucosidase alfa/placebo in late-onset Pompe disease: PROPEL study\nThe posters will be made available on the Amicus website following their respective presentations at the congress.\nFor more information on the 16th International Congress on Neuromuscular Diseases, please visit www.icnmd.org .\nAmicus Therapeutics (Nasdaq: FOLD) is a global, patient-dedicated biotechnology company focused on discovering, developing and delivering novel high-quality medicines for people living with rare metabolic diseases.

Key Points:

b'PHILADELPHIA, May 21, 2021 (GLOBE NEWSWIRE) -- Amicus Therapeutics (Nasdaq: FOLD), today announced two posters for presentation highlighting its development program for Pompe disease at the 16th International Congress on Neuromuscular Diseases\xc2\xa0(ICNMD) being held virtually, May 21-22 and 28-29, 2021.\nEnhancing Delivery of Acid Alpha-Glucosidase to Skeletal Muscle in Pompe Disease: Key Challenges and Attributes of AT-GAA\nEfficacy and safety of cipaglucosidase alfa/miglustat versus alglucosidase alfa/placebo in late-onset Pompe disease: PROPEL study\nThe posters will be made available on the Amicus website following their respective presentations at the congress.\nFor more information on the 16th International Congress on Neuromuscular Diseases, please visit www.icnmd.org .\nAmicus Therapeutics (Nasdaq: FOLD) is a global, patient-dedicated biotechnology company focused on discovering, developing and delivering novel high-quality medicines for people living with rare metabolic diseases.
With extraordinary patient focus, Amicus Therapeutics is committed to advancing and expanding a robust pipeline of cutting-edge, first- or best-in-class medicines for rare metabolic diseases.
For more information please visit the company\xe2\x80\x99s website at www.amicusrx.com , and follow us on Twitter and LinkedIn .\n'

The World's Largest Charity Cryptocurrency ELONGATE Announces Kimbal Musk Interview and EB Research Partnership Donation

Retrieved on:

Thursday, May 20, 2021

Cryptocurrencies, Articles, Decentralization, Blockchains, Concurrent computing, Technology, Genodermatoses, Rare diseases, Epidermolysis bullosa, Decentralized application, EB, Smart contract

b'BERN, Switzerland, May 20, 2021 /PRNewswire/ -- ELONGATE, the world\'s first and biggest charity crypto token, reveals plans for an interview with Kimbal Musk, online store launch, and EB Research Partnership Donation.

Key Points:

b'BERN, Switzerland, May 20, 2021 /PRNewswire/ -- ELONGATE, the world\'s first and biggest charity crypto token, reveals plans for an interview with Kimbal Musk, online store launch, and EB Research Partnership Donation.
This news comes a week after Elongate was listed on its first major exchange BitMart and days after a successful audit by CertiK.
CertiK is a blockchain company that conducts security audits of other blockchains, DApps, wallets and smart contracts.
Recently, Elongate donated US$150,000 to EB Research Partnership (EBRP) which is the largest global organization dedicated to funding research to treat and cure Epidermolysis Bullosa (EB).

The World's Largest Charity Cryptocurrency ELONGATE Announces Kimbal Musk Interview and EB Research Partnership Donation

Retrieved on:

Thursday, May 20, 2021

Cryptocurrencies, Articles, Decentralization, Blockchains, Concurrent computing, Technology, Genodermatoses, Rare diseases, Epidermolysis bullosa, Decentralized application, EB, Smart contract

b'BERN, Switzerland, May 20, 2021 /PRNewswire/ -- ELONGATE, the world\'s first and biggest charity crypto token, reveals plans for an interview with Kimbal Musk, online store launch, and EB Research Partnership Donation.

Key Points:

b'BERN, Switzerland, May 20, 2021 /PRNewswire/ -- ELONGATE, the world\'s first and biggest charity crypto token, reveals plans for an interview with Kimbal Musk, online store launch, and EB Research Partnership Donation.
This news comes a week after Elongate was listed on its first major exchange BitMart and days after a successful audit by CertiK.
CertiK is a blockchain company that conducts security audits of other blockchains, DApps, wallets and smart contracts.
Recently, Elongate donated US$150,000 to EB Research Partnership (EBRP) which is the largest global organization dedicated to funding research to treat and cure Epidermolysis Bullosa (EB).

Expert Panel Provides Framework for Incorporating DecisionDx-SCC Results Into Clinical Decision Making for Cutaneous Squamous Cell Carcinoma Patients With One or More Risk Factors

Retrieved on:

Thursday, May 20, 2021

\xe2\x80\x9cProgress has been made with clinicopathologic risk factor assessment.

Key Points:

\xe2\x80\x9cProgress has been made with clinicopathologic risk factor assessment.
However, potential remains for these assessments to overestimate or underestimate risk.
The Company currently offers tests for patients with cutaneous melanoma (DecisionDx\xc2\xae-Melanoma, DecisionDx\xc2\xae-CMSeq), cutaneous squamous cell carcinoma (DecisionDx\xc2\xae-SCC), suspicious pigmented lesions (DecisionDx\xc2\xae DiffDx\xe2\x84\xa2-Melanoma) and uveal melanoma (DecisionDx\xc2\xae-UM, DecisionDx\xc2\xae-PRAME and DecisionDx\xc2\xae-UMSeq).
Actual results or events could differ materially from the plans, intentions and expectations disclosed in the forward-looking statements that we make.