Celebrating Rare Disease Day

Posted February 28th, 2018 in Patients, Rare Diseases

Today we recognize and celebrate #RareDiseaseDay to raise awareness of rare diseases and their impact on patients’ lives.

Nearly 1 out of 10 Americans lives with a rare disease – more than 30M people in the United States.  NORD has documented over 7000 rare diseases, from uncommon cancers to monogenic disorders to complex syndromes.  And children are more than half of those affected by rare diseases.

Although we’ve seen approvals for more than 650 drugs for rare indications since the passage of the Orphan Drug Act in 1983, much work needs to be done to advance more medicines for these conditions.  To it’s credit, the FDA has announced a number of new initiatives to facilitate rare disease drug development.

On Rare Disease Day, our collective focus is on the patients and their families whose lives are affected by rare diseases.  And we recognize their courage in participating in research and clinical trials in the pursuit of new therapies; by looking beyond their disease to the future, these patients and their families, physicians, and supportive advocacy groups are making invaluable contributions to the quest for new treatments and eventual cures.

As an early stage investor in a number of rare disease programs over the past two decades, Atlas has had the privilege of supporting the development and approval of a number of rare disease medicines. One of the most memorable experiences of my career was back in December 2007 attending the FDA Ad Com meeting for Xenazine (tetrabenazine), a new medicine being developed for Huntington’s Disease (HD). HD is a progressive, neurodegenerative disorder typically characterized by involuntary movements (chorea), behavioral and personality changes and cognitive decline (dementia). Xenazine aimed to control some of the chorea and was poised for approval. Sitting in the Ad Com meeting and feeling the passion and commitment of the HD patient community, and hearing their incredible stories, dramatically influenced the tone of that FDA meeting in a positive way. There wasn’t a dry eye in the entire room. And it left a huge impression on me about what we’re doing in the biotech sector and the importance of patient-centricity in everything we do.

Over the years, Atlas has been fortunate to support the development and approval of a number of other rare disease medicines beyond Prestwick’s tetrabenazine: Actelion Pharmaceuticals’ franchise with bosentan and macitentan for pulmonary arterial hypertension, Exelixis’ kinase inhibitor cabozantinib for medullary thyroid cancer and renal cell carcinoma, and, almost there, with Alnylam Pharmaceuticals’ patisiran for hATTR amyloidosis.

We look forward to a future in which rare diseases are routinely being cured with the edit of a gene, transplant of cells, or the dosing of a new drug. In the quest for these medicines, it’s important on #RareDiseaseDay to also celebrate those R&D teams doing the hard work of discovering the next generation of therapies. We’re honored to support a number of them. To salute a few of these great teams, here’s a subset of those in our portfolio with clinical-stage programs addressing rare diseases:

  • AVROBIO: applying cell and gene therapy to cure lysosomal storage diseases;
  • Cadent Therapeutics: taking a precision medicine approach to treating ataxia
  • Lysosomal Therapeutics, Inc.: developing treatment for the GBA form of Parkinson’s disease;
  • Magenta Therapeutics: revolutionizing bone marrow transplant as a curative therapy for a wide range of diseases such as Hurler’s disease;
  • miRagen Therapeutics: advancing microRNA therapies for patients with the mycosis fungoides form of cutaneous T-cell lymphoma;
  • Synlogic: creating a novel class of Synthetic Biotic medicines to treat a range of rare genetic metabolic diseases;
  • Translate Bio: developing mRNA therapies to treat cystic fibrosis, OTC deficiency, rare liver and lung diseases;
  • Zafgen: committed to treating Prader-Willi Syndrome, a rare genetic form of life-threatening obesity and hyperphagia.

As you reflect on #RareDiseaseDay today, please take a moment to visit the NORD website and “raise your hand” to support the effort (just by clicking you can help fundraise for rare diseases).  Or share your message of hope as a “ripple” in support of rare diseases.

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