Rare disease Archives

News and Trends 21 Feb 2023

First patient enrolled in Pharming APSD trial

Pharming Group N.V. says the first patient has been enrolled in its phase III clinical trial evaluating the investigational drug leniolisib, an oral, selective phosphoinositide 3-kinase delta (PI3Kδ) inhibitor, in children with activated phosphoinositide 3-kinase delta syndrome (APDS). There is currently no approved treatment for this complex and progressive disease caused by genetic variants. At […]

February 21, 2023 - 6 minutesmins - By Jim Cornall

News and Trends 21 Feb 2023

FDA approves alpha-mannosidosis drug

Chiesi Global Rare Diseases, a business unit of Chiesi Farmaceutici S.p.A., an international research-focused healthcare Group (Chiesi Group), says the U.S. Food and Drug Administration (FDA) has approved Lamzede (velmanase alfa-tycv) for the treatment of non-central nervous system manifestations of alpha-mannosidosis (AM) in adult and pediatric patients. AM is an ultra-rare, progressive lysosomal storage disorder […]

February 21, 2023 - 3 minutesmins - By Jim Cornall

News and Trends 17 Feb 2023

Positive results for INOVIO recurrent respiratory papillomatosis trial

INOVIO Pharmaceuticals has announced positive preliminary results from the second cohort of its phase 1/2 clinical trial evaluating INO-3107 for the treatment of HPV 6 and HPV 11-associated recurrent respiratory papillomatosis (RRP) in adults. In the second cohort of 11 patients who were administered INO-3107 via the exploratory side port needle, 10 of the 11 […]

February 17, 2023 - 3 minutesmins - By Jim Cornall

News and Trends 10 Feb 2023

Janssen reports positive topline phase 2 HDFN results

The Janssen Pharmaceutical Companies of Johnson & Johnson has announced positive topline results from the proof-of-concept phase 2 open-label UNITY clinical trial for the treatment of pregnant adults at high risk for severe hemolytic disease of the fetus and newborn (HDFN). HDFN is a serious and rare condition that can cause life-threatening anemia in the […]

February 10, 2023 - 3 minutesmins - By Jim Cornall

News and Trends 19 Jan 2023

Hundreds of genetic discoveries from FinnGen study

New results from the FinnGen research consortium include previously unknown genetic risk factors for many debilitating diseases. These findings have potential to facilitate the development of new therapies. Since initiation in 2017, the FinnGen study has developed into one of the world’s leading biobank-based genomic research projects. Currently, FinnGen is completing the construction of a […]

January 19, 2023 - 4 minutesmins - By Jim Cornall

In Depth 11 Jan 2023

Drug repurposing emerges as viable option for rare disease treatment

With few options available for the treatment of rare diseases, the practice of drug repurposing has gained traction as an effective strategy. With genome sequencing revealing new rare diseases, it is now known that at least 5% of the world population lives with a rare disease. Drug development must pick up the pace to keep […]

January 11, 2023 - 7 minutesmins - By Sachin Rawat

Opinion 12 Dec 2022

Artificial intelligence: a new era in rare genetic disease diagnosis

Despite the onset of the genomics era, rare disease diagnosis remains a challenge. Nostos Genomics’ co-founder, Rocío Acuña Hidalgo, and chief operating officer, Ansgar Lange, shed light on how artificial intelligence (AI) could fill in the gaps. It is estimated that 300 million people worldwide are affected by rare diseases and around 80% of these […]

December 12, 2022 - 6 minutesmins - By External Contributor

News and Trends 7 Dec 2022

PacBio and Boston Children’s Hospital to study genome to benefit patients

PacBio, a developer of sequencing solutions, says its HiFi sequencing technology will be used in a pilot project for the Children’s Rare Disease Cohorts Initiative (CRDC) at Boston Children’s Hospital in the U.S. Boston Children’s Hospital researchers will use HiFi whole-genome sequencing (HiFi WGS) for the purpose of investigating genetic and epigenetic variants associated with […]

December 7, 2022 - 3 minutesmins - By Jim Cornall

News and Trends 2 Dec 2022

Khondrion’s sonlicromanol produces encouraging results for next stage of study

Biopharma company, Khondrion, has marked announced improvements from patients with MELAS spectrum disorders taking its lead asset, sonlicromanol. Updates were provided by the company from a 28-day double-blind, randomized placebo-controlled, three-way cross-over phase 2b study called KHNERGYZE in which 27 took part. It also reported updates on the ongoing, open-label extension KHEREREXT phase 2b study […]

December 2, 2022 - 2 minutesmins - By Liza Laws

News and Trends 24 Nov 2022

Gene therapy approval “game changer” in hemophilia B treatment

The approval of CSL’s gene therapy Hemgenix has ushered in a new era for hemophilia B treatment. With the addition of other approvals like Rocktavian and Upstaza, 2022 could be a turning point for the broader gene therapy field. Earlier this week, etranacogene dezaparvovec (Hemgenix) made history as the first gene therapy approved by the […]

November 24, 2022 - 7 minutesmins - By Jonathan Smith

News and Trends 23 Nov 2022

Khondrion’s mitochondrial diseases treatment producing positive results

Clinical-stage pharmaceutical company, Khondrion, discovering and developing therapies targeting primary mitochondrial diseases announced yesterday (November 22) its wholly-owned lead asset sonlicromanol for MELAS spectrum disorder has demonstrated positive treatment results. MELAS spectrum disorder is a rare progressive mitochondrial disease and sonlicromanol will move into a phase 3 registrational study supported by favorable benefit-risk profile. The […]

November 23, 2022 - 5 minutesmins - By Liza Laws

News and Trends 15 Nov 2022

Avanzanite Bioscience looks to commercialize innovative medicines for rare diseases in Europe

Avanzanite Bioscience B.V. has officially launched its commercial-stage enterprise, to expand patient access to medicines for rare diseases in Europe while unlocking revenue and growth potential for emerging research-based biopharmaceutical originators. Avanzanite, a fully authorized distributor of medicinal products, partners with biopharmaceutical collaborators through flexible, bespoke licensing and distribution partnerships across Europe. The company’s business […]

November 15, 2022 - 3 minutesmins - By Jim Cornall

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Rare disease

First patient enrolled in Pharming APSD trial

FDA approves alpha-mannosidosis drug

Positive results for INOVIO recurrent respiratory papillomatosis trial

Janssen reports positive topline phase 2 HDFN results

Hundreds of genetic discoveries from FinnGen study

Drug repurposing emerges as viable option for rare disease treatment

Artificial intelligence: a new era in rare genetic disease diagnosis

PacBio and Boston Children’s Hospital to study genome to benefit patients

Khondrion’s sonlicromanol produces encouraging results for next stage of study

Gene therapy approval “game changer” in hemophilia B treatment

Khondrion’s mitochondrial diseases treatment producing positive results

Avanzanite Bioscience looks to commercialize innovative medicines for rare diseases in Europe

Subscribe to our newsletter to get the latest biotech news!

Catalonia: A biotech hub going from strength to strength, with Barcelona at its core

Top biotech deals of February 2025

Grab your free report on 3D organoids and explore their future potential

These 7 biotechs are shaping the next generation of endometriosis care

Connect with decision-makers and researchers worldwide for collaborative opportunities

Subscribe to our newsletter

Advertise with us

Catalonia: A biotech hub going from strength to strength, with Barcelona at its core

Top biotech deals of February 2025

Grab your free report on 3D organoids and explore their future potential

These 7 biotechs are shaping the next generation of endometriosis care

Connect with decision-makers and researchers worldwide for collaborative opportunities

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Advertise with us

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