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Novartis works for patients with rare diseases

February 24, 2012

Scientist networking

From pioneering Novartis medicines used by patients worldwide to treat rare forms of cancer to potential medical breakthroughs now undergoing clinical testing, our commitment to rare diseases has never been stronger. Underscoring that commitment, Novartis headquarters in Basel, Switzerland, will host the RE(ACT) Congress, the first international congress on research of rare and orphan diseases, from February 29 to March 2.

A renaissance in rare disease research

Thousands of disorders fit the definition of “orphan diseases” established by health authorities around the world. Each orphan condition is rare, affecting hundreds or thousands of people – a far cry from the millions of patients with hypertension or type 2 diabetes. The collective impact on public health is immense, however, and the vast majority of rare diseases still lack effective treatment options.

After decades of neglect, research on rare diseases has exploded in recent years. According to a recent report by the Institute of Medicine, a branch of the US National Academy of Science, “Scientific and technological advances on many fronts – combined with supportive public policies and private initiatives – offer opportunities to intensify research on the causes and mechanisms of rare diseases and to reduce the number of rare diseases with no or inadequate means of prevention.” 1

Novartis is an industry leader in development of medicines for rare diseases. More than a dozen Novartis medicines currently in the market have been designated orphan drugs. In addition, more than 60 Novartis compounds in preclinical or clinical development have received “orphan designations” and, if approved, will be entitled to various financial incentives, particularly extended periods of market exclusivity.

Rare disorders targeted by investigational compounds from Novartis range from aggressive systemic mastocytosis and myelofibrosis to Fragile X syndrome and spinal muscular atrophy.

In 1983, the United States passed legislation offering financial incentives to encourage development of drugs against “orphan diseases,” which affect up to 200,000 patients nationwide. To date orphan drugs have been approved to treat more than 350 different indications and the pace has accelerated in recent years. Orphan drug approvals represented 17% of all approvals by the US Food and Drug Administration from 1984 to 1988; between 2004 and 2008, that proportion almost doubled, to 31%. 2

During the 1990s the European Union, Japan and Australia also adopted similar orphan drug legislation, galvanizing research into rare diseases.

Cancers comprise the most common category of rare diseases, accounting for 36% of orphan drug approvals by the FDA between 2000 and 2006.

For all the progress to date, however, orphan diseases represent huge unmet medical need. An estimated 6,800 rare diseases still lack FDA-approved therapies and the Institute of Medicine report found that newly identified rare disorders are reported almost weekly.

Rare genetic disorders

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In 2011, Novartis was honored by the National Organization on Rare Disorders for our research in rare diseases. NIBR, the Novartis research group, is currently working on treatments for more than 40 rare diseases.

Rare diseases have a prominent role at the Novartis Institutes for BioMedical Research (NIBR), the drug discovery arm of the Pharmaceuticals Division.

“We choose to work where there is unmet need and where the scientific understanding is strongest,” said Mark C. Fishman, M.D., President of NIBR. “Unmet need can mean a rare disease with a small number of patients. Rare diseases have a huge impact on families, which has influenced me in focusing a significant portion of our research programs on these disorders.”

NIBR scientists focus on fundamental biological mechanisms underlying disease. Most diseases result from defects or imbalances in a few dozen signaling pathways that have been conserved through evolution and control many of the basic cellular functions of life. By mapping these pathways, NIBR scientists look for openings to disrupt disease – for example, nodes or components so critical that, if disabled, they could cause the entire pathway to collapse.

The way new medicines are tested at Novartis can be as novel as the medicines themselves – and here too rare diseases are critically important. “We might start with a very rare disease in what we call a proof-of-concept study,” Dr. Fishman explained. A small-scale clinical trial, the proof of concept study allows a preclinical hypothesis about a drug’s mechanism of action to be tested in a homogeneous patients group, providing a quick confirmation of potential therapeutic benefit. “If successful, we quickly extend development to other diseases in which the same mechanism is believed to be involved,” Dr. Fishman added

Personalized treatment

Industry is part of a complex solution for patients with rare diseasesenlarge

Industry is part of a complex solution for patients with rare diseases

Negotiations over pricing and reimbursement with individual European countries are necessary before patients gain broad access to a new drug. Those negotiations can take months – or even years – to conclude. So-called “expanded access programs” allow companies to offer treatment with an investigational drug outside of a clinical trial for patients who lack satisfactory treatment, a common issue with rare diseases.

During 2011, Novartis also established an expanded access program for a drug being developed for treatment of primary myelofibrosis, a rare blood cancer with limited therapeutic options. In an initial step following successful completion of two Phase III trials in early 2011, a compassionate use program provided access for about 500 patients. During the summer, the expanded access program was established to complement the compassionate use initiative.

“The expanded access program is a clinical study with broader scope and more participating centers. Physicians enroll patients into the program who receive treatment if they fulfill preset criteria,” said Renaud Capdeville, M.D., Global Program Head. “It is an opportunity to collect additional data, especially on safety. Physicians who haven’t participated in the registration trials learn more about the medicine and can improve treatment of myelofibrosis, which is still not well understood in routine clinical practice.”

Dr. Capdeville expects the expanded access program to enroll at least 1,000 patients from hundreds of hospitals around the world. The program is open to patients in all countries except the United States, where Incyte Inc. retains commercial rights to the compound.

Translating fundamental science into concrete therapies can lead researchers in unexpected directions. Novartis has one medicine under investigation that blocks particular receptors in the brain known as metabotropic glutamate receptors. Its main target helps ensure normal brain function but also is implicated in the pathology of a number of neurological diseases.

NIBR’s translational medicine group completed a successful proof-of-concept study for this investigational medicine in Fragile X syndrome, the most common cause of inherited mental impairment. Importantly, the proof-of-concept study identified a biomarker that identified a subset of Fragile X patients who responded positively to it. A companion diagnostic test is being used in clinical trials.

“Using the biomarker – and the companion diagnostic in clinical testing, we hope that we will be able to accurately predict each Fragile X patient’s response to this investigational medicine” said Baltazar Gomez-Mancilla, MD, Executive Director, Neuroscience Translational Medicine at NIBR. “This is new for the field of Fragile X treatment and an encouraging step toward realizing a personalized treatment for these patients.”

  1. IOM (Institute of Medicine), 2010, Rare Diseases and Orphan Products: Accelerating Research and Development, Washington DC: The National Academies Press. (Page 18)
  2. Ibid, p. 295