Rare Diseases Archives - Medical Design Sourcing

Rare diseases, immense needs: J&J’s mission to change the landscape

Rare diseases may seem niche, but their impact is far from small. An estimated 7,000 rare diseases exist, collectively affecting a staggering 300 million people worldwide. This immense burden of disease, coupled with a profound lack of treatment options, underscores the urgent need for innovation. “Actually, the total burden of disease and unmet medical need [for rare disease] is really high,” emphasizes Dr. Katie Abouzahr, vice president, autoantibody portfolio and maternal fetal disease area leader at Johnson and Johnson Innovative Medicine. In recognition of Rare Disease Day on February 29 in 2024, we spoke with Abouzahr to explore how Johnson & Johnson Innovative Medicine aims to tackle these challenges.

The profound scarcity of treatments for the thousands of known rare diseases drives Johnson & Johnson’s commitment to this area. Abouzahr highlights that many of these diseases still lack advanced therapies, emphasizing the “incred…

Amylyx Pharmaceuticals launches phase 2 trial for AMX0035 Wolfram syndrome therapy

Cambridge, Massachusetts–based Amylyx has dosed the first participant in its phase 2 HELIOS clinical trial of AMX0035 focusing on Wolfram syndrome. The condition is an ultra-rare genetic disorder involving the endocrine system. Symptoms of Wolfram syndrome can include diabetes insipidus, diabetes mellitus, optic atrophy and hearing loss.

In September, Amylyx won FDA approval for AMX0035 (sodium phenylbutyrate and taurursodiol), marketed as Relyvrio, for adults with amyotrophic lateral sclerosis (ALS).

Both sodium phenylbutyrate and taurursodiol are smal molecules demonstrating neuroprotective effects in preclinical studies.

Trial design

The HELIOS is an exploratory open-label proof of biology study. Amylyx anticipates topline results from HELIOS in 2024.

The HELIOS trial is an exploratory open-label, single-group proof of biology study, with Amylyx anticipating topline results in 2024. The trial aims to assess the safety and efficacy of AMX0035 in…

Chiesi Farmaceutici acquires Amryt Pharma to bolster access to rare disease therapies

Chiesi Farmaceutici, a family-owned international pharma company, has completed its $1.25 billion acquisition of rare disease-focused biopharma Amryt Pharma (Nasdaq:AMYT). The companies announced the deal in January and projected it would close in the first half of 2023.

Strengthening Chiesi’s global rare disease focus

Chiesi’s decision to acquire Amryt Pharma is part of a broader trend of increased M&A activity in the pharma sector. In the first few months of 2023, Pfizer, Sanofi, AstraZeneca, and Amgen have also announced significant acquisition plans.

The Chiesi acquisition aims to strengthen Chiesi’s Global Rare Diseases business division. Amryt Pharma’s product portfolio includes three approved commercial products:

Lojuxta/Juxtapid (lomitapide) for treating homozygous familial hypercholesterolemia. This condition involves high levels of low-density lipoprotein cholesterol (LDL-C) in the blood, contributing to premature car…

Prominent pharma M&A deals to watch in Q1 2023: Pfizer, Sanofi and others on the hunt

[Image courtesy of Rawpixel.com/Adobe Stock]

After a relatively quiet 2022, 2023 is anticipated to be a more robust year for pharma M&A activity. In recent months, players such as Pfizer (NYSE:PFE), Sanofi (NYSE:SNY), Chiesi, AstraZeneca (LON:AZN) and Amgen (Nasdaq:AMGN) have unveiled acquisition plans that could reshape the landscape of the sector. This article delves into the details of prominent recent M&A deals and explores their potential impact on the future of the pharma sector.

Pfizer plans to acquire Seagen

New York City–based Pfizer has recently been on a shopping spree, scooping up Trillium Therapeutics, Biohaven, Global Blood Therapeutics, and Arena Pharmaceuticals. Now, the company has unveiled its plans to acquire Seagen (Nasdaq:SGEN), a Seattle biotech firm focused on oncology. The proposed acquisition, valued at $43 billion, awaits regulatory approval. Pfizer plans to offer $229 per share…