Rare Disease

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FDA Approved | Image credit: B-design - stock.adobe.com

FDA Approves First RNA-Targeted Treatment for Hereditary Angioedema

By Julia Bonavitacola

August 21st 2025

The approval makes donidalorsen the only treatment in the US for hereditary angioedema that is an RNA-targeted prophylactic.

FDA headquarters | Image Credit: Tada Images - stock.adobe.com

FDA Issues CRL for Vatiquinone in Friedreich Ataxia, Requests More Efficacy Data

By Brooke McCormick

August 19th 2025

While the findings suggest that switching to onasemnogene abeparvovec after non–gene therapy treatments could be beneficial to patients with spinal muscular atrophy, it is not clear which patients may benefit the most from switching therapies. | Image credit: Rochu_2008 - stock.adobe.com

Switching to Gene Therapy After Nusinersen or Risdiplam May Benefit Patients With SMA

By Rose McNulty

August 15th 2025

Dordaviprone is indicated for recurrent H3 K27M-mutant diffuse midline glioma, an ultra-rare, aggressive brain tumor primarily affecting children. | Image credit: wladimir1804 - stock.adobe.com

FDA Approves Dordaviprone as First and Only Treatment for Aggressive Form of Glioma

By Rose McNulty

August 6th 2025

Women in science | Image Credit: © metamorworks-stock.adobe.com.jpeg

5 Rare Disorders Named for Pioneering Female Scientists

By Maggie L. Shaw

May 23rd 2025

More News

Patient-Reported Outcome Measures Are Key to Understanding Rare Diseases

April 29th 2018

Patient-Reported Outcome Measures Are Key to Understanding Rare Diseases

Rare disease can significantly reduce patients’ quality of life, and the use of patient-reported outcome measures (PROMs) can be key to helping researchers understand how diseases and treatments impact quality of life and symptoms, according to a review newly published in the Orphanet Journal of Rare Diseases.

Positive Interim Data Published for Transfusion-Dependent Β-Thalassemia Gene Therapy

April 24th 2018

Positive Interim Data Published for Transfusion-Dependent Β-Thalassemia Gene Therapy

Drug company bluebird bio, Inc, has announced the publication of positive interim data for its gene therapy to eliminate or reduce chronic blood transfusions in patients with transfusion-dependent β-thalassemia.

FDA Committee in Favor of Cannabidiol to Treat Two Rare Seizure Disorders

April 22nd 2018

FDA Committee in Favor of Cannabidiol to Treat Two Rare Seizure Disorders

The FDA’s Peripheral and Central Nervous System Drugs Advisory Committee has unanimously recommended approval of the New Drug Application for GW Pharmaceuticals’ proposed cannabidiol oral solution for the adjunctive treatment of seizures associated with 2 rare disorders, Lennox-Gastaut syndrome and Dravet syndrome, in patients 2 years and older.

Price Tag for Newly Approved Crysvita Is "Responsible," Says PBM Express Scripts

April 18th 2018

Price Tag for Newly Approved Crysvita Is "Responsible," Says PBM Express Scripts

Taking the rebates that it expects to negotiate into consideration, Ultragenyx said that burosumab will cost approximately $160,000 per patient per year for children and $200,000 per patient per year for adults, depending on body weight. The company said that it does not plan to increase costs in the early years of the drug’s availability.

As New Duchenne Therapy Enters Phase 1 Trial, Advocacy Groups Seek Better Access to Existing Drug

April 15th 2018

As New Duchenne Therapy Enters Phase 1 Trial, Advocacy Groups Seek Better Access to Existing Drug

Pfizer has dosed its first patient in a phase 1 clinical trial of an investigational gene therapy for the treatment of patients with Duchenne muscular dystrophy, a genetic disease that results in the absence of dystrophin, a protein that helps to keep muscle cells intact.

Discovery About Rare Bone Disease May Also Hold Clues About Bone Health

April 12th 2018

Discovery About Rare Bone Disease May Also Hold Clues About Bone Health

Allison Inserro

National Institutes of Health researchers have uncovered a genetic basis of a rare bone disease known as melorheostosis and said the discovery could offer potential treatment targets, provide clues about bone development, and lead to insights about fracture healing and osteoporosis.

Pediatric Sickle Cell Disease Drug Gains European Orphan Designation

April 8th 2018

Pediatric Sickle Cell Disease Drug Gains European Orphan Designation

Sancilio Pharmaceuticals announced that it has received the European Medicines Agency’s Orphan Designation for its SC411 (which it plans to market as Altemia), a proposed treatment for sickle cell disease in pediatric patients, in the European Union. The FDA granted the proposed drug a similar designation—the Rare Pediatric Disease designation—in 2017.

Siponimod Reduced Progression in Secondary Progressive Multiple Sclerosis in a Phase 3 Trial

April 1st 2018

Siponimod Reduced Progression in Secondary Progressive Multiple Sclerosis in a Phase 3 Trial

Results of a double-blind, randomized, phase 3 trial, published last week in The Lancet, show that siponimod—a selective sphingosine 1-phosphate receptor modulator—slowed the progression of disability in secondary progressive multiple sclerosis.

March 26th 2018

Boys Don't Get HPV Vaccination Because Doctors Don't Recommend It, Study Finds

Uptake for the human papillomavirus (HPV) vaccination has never reached CDC targets. Minority children from lower-income households are more likely to get the vaccination than white children from higher-income households, according to the study author.

ICER Review Finds Hemlibra Lowers Costs and Improves Outcomes in Hemophilia A

March 25th 2018

ICER Review Finds Hemlibra Lowers Costs and Improves Outcomes in Hemophilia A

Samantha DiGrande

Recently, the Institute for Clinical and Economic Review (ICER) released an evidence report that investigated the comparative clinical effectiveness and value of emicizumab (marketed as Hemlibra, developed by Genentech) in the treatment of hemophilia A.

ICER Seeks Comments on Planned Reviews of 2 Amyloidosis Therapies

March 18th 2018

ICER Seeks Comments on Planned Reviews of 2 Amyloidosis Therapies

Currently, the FDA is evaluating 2 investigational drugs, both of which treat the underlying pathophysiology of hereditary transthyretin amyloidosis.

March 15th 2018

With ODYSSEY Results in Hand, Talks With Payers Begin to Jump Start Praluent Sales

Sanofi–Regeron's offer to cut prices if payers improve access comes on the heels of the FDA Commissioner's critique of the "Kabuki" constructs that harm the sickest patients.

Price and Clinical Factors Impact Canadian Orphan Drug Recommendation Rates

March 11th 2018

Price and Clinical Factors Impact Canadian Orphan Drug Recommendation Rates

In Canada, there exists no distinct regulatory or reimbursement pathway for orphan drugs. Instead, these products undergo the same review processes as any other drug. When a medicine is submitted for review, the Common Drug Review examines the clinical and economic evidence, and its expert committee issues a nonbinding positive or negative recommendation for listing on publicly funded drug plans.

Science 37, Novartis Sign Agreement to Advance Decentralized Clinical Trials

March 8th 2018

Science 37, Novartis Sign Agreement to Advance Decentralized Clinical Trials

Proprietary technology helps overcome the problem of long travel distances for those taking part in clinical trials.

NIH Panel Features Experiences of Young Adults in Rare Disease Community

March 6th 2018

NIH Panel Features Experiences of Young Adults in Rare Disease Community

During a discussion, 4 panelists addressed their main issues of growing up with rare diseases, including that physicians often doubted their feelings of pain and distress.

CSPG4 Could Make CAR T-Cell Therapy a Reality in Treating Glioblastoma

March 4th 2018

CSPG4 Could Make CAR T-Cell Therapy a Reality in Treating Glioblastoma

Researchers have identified a molecular target that could allow chimeric antigen receptor (CAR) T-cell therapy to be used in treating patients with glioblastoma. Although the heterogeneous expression of tumor-associated antigens limits the efficacy for CAR-redirected T cells for the treatment of glioblastoma, chondroitin sulfate proteoglycan 4 (CSPG4), a cell surface type 1 transmembrane protein, is highly expressed in a majority of glioblastoma specimens with limited heterogeneity.

Kazia Gains Orphan Designation for Investigational Glioblastoma Treatment

February 25th 2018

Kazia Gains Orphan Designation for Investigational Glioblastoma Treatment

Kazia Therapeutics Limited, an oncology-focused biotechnology company, announced on Friday that it has received the FDA’s Orphan Drug Designation for its investigational drug, GDC-0084, for the treatment of glioblastoma multiforme, the most aggressive form of primary brain cancer.

FDA Approves Symdeko to Treat the Underlying Cause of Cystic Fibrosis

February 18th 2018

FDA Approves Symdeko to Treat the Underlying Cause of Cystic Fibrosis

Drug maker Vertex has announced that the FDA has approved tezacaftor/ivacaftor and ivacaftor (Symdeko) for the treatment of the underlying cause of cystic fibrosis (CF) in patients aged 12 or older who have 2 copies of the F508del mutation in the cystic fibrosis transmembrane conductance regulator gene, or who have at least 1 genetic mutation that is responsive to treatment with tezacaftor/ivacaftor.

Study Finds Merkel Cell Carcinoma Incidence Has Increased Since 2000

February 17th 2018

Study Finds Merkel Cell Carcinoma Incidence Has Increased Since 2000

Merkel cell carcinoma (MCC) is a rare disease, but it's getting less rare. Study results presented at the American Academy of Dermatology 2018 Annual Meeting found that cases of MCC increased 95% between 2000 and 2013

IND Filed for Gene Therapy to Treat Scleroderma

February 11th 2018

IND Filed for Gene Therapy to Treat Scleroderma

Fibrocell Science has submitted an Investigational New Drug Application (IND) with the FDA for a gene therapy candidate to treat moderate to severe localized scleroderma.

Gene Therapy for Fabry Disease to Advance to Phase 2 Clinical Trials

February 4th 2018

Gene Therapy for Fabry Disease to Advance to Phase 2 Clinical Trials

Biotechnology company Avrobio has completed a $60 million Series B financing to advance multiple gene therapies, including AVR-RD-01, a proposed single-dose lentiviral gene therapy for Fabry disease (FD).

New Guidelines for Rare Disease Advocacy Groups to Navigate Interactions With Pharma

January 28th 2018

New Guidelines for Rare Disease Advocacy Groups to Navigate Interactions With Pharma

Only 5% of rare diseases have treatments, but approximately half have patient advocacy organizations; these groups have the potential to play major roles in positively influencing research and development of drugs, clinical trials, and regulations by championing funding and awareness efforts, forming connections between experts and drug developers, advocating for changes to regulation to expedite research, facilitating patient registries, or other initiatives.

FDA Approves First Radioactive Drug for Rare Type of GI Cancer

January 27th 2018

FDA Approves First Radioactive Drug for Rare Type of GI Cancer

Allison Inserro

The FDA approved the first radioactive drug, or radiopharmaceutical, to treat a rare type of cancer that affects the pancreas or gastrointestinal tract called gastroenteropancreatic neuroendocrine tumors (GEP-NETs). Lutathera (lutetium Lu 177 dotatate) is cleared for adult patients with somatostatin receptor-positive GEP-NETs.

Study Finds Prior Authorization Mandates for PCSK9 Drugs Raise Questions of Access

January 20th 2018

Study Finds Prior Authorization Mandates for PCSK9 Drugs Raise Questions of Access

Researchers were especially concerned about barriers for patients with familial hypercholesterolemia, whose needs would seem clear cut but who nonetheless faced costly hurdles, such as genetic testing.

Proposed Drug to Treat Oculopharyngeal Muscular Dystrophy Gains Orphan Drug Designation

January 19th 2018

Proposed Drug to Treat Oculopharyngeal Muscular Dystrophy Gains Orphan Drug Designation

Benitec Biopharma, an Australia-based drug developer, has received the FDA’s Orphan Drug designation for BB-301, an investigational drug for the treatment of oculopharyngeal muscular dystrophy.

What We're Reading: Herd Immunity; President's Health; Blindness Gene Therapy Is Overpriced

January 15th 2018

What We're Reading: Herd Immunity; President's Health; Blindness Gene Therapy Is Overpriced

Why healthy adults should still get the flu vaccine; President Donald Trump undergoes first medical checkup of his presidency; review of Luxturna finds the $850,000 gene therapy needs a price discount.

Promacta Earns Breakthrough Therapy Designation by FDA for Severe Aplastic Anemia

January 11th 2018

Promacta Earns Breakthrough Therapy Designation by FDA for Severe Aplastic Anemia

Samantha DiGrande

Recently, the FDA granted a breakthrough therapy designation to eltrombopag (Promacta, Novartis) for combination use with standard immunosuppressive therapy as a first-line treatment for patients with severe aplastic anemia (SAA).

FDA Approves Denosumab for Prevention of Skeletal-Related Events in Patients with Multiple Myeloma

January 9th 2018

FDA Approves Denosumab for Prevention of Skeletal-Related Events in Patients with Multiple Myeloma

Jaime Rosenberg

The approval will expand the currently approved indication for the prevention of skeletal-related events in patients with bone metastases from solid tumors to also include patients with multiple myeloma.

Review Explores Investigations Into Immunomodulatory, Anti-Inflammatory Therapy in Huntington Disease

January 6th 2018

Review Explores Investigations Into Immunomodulatory, Anti-Inflammatory Therapy in Huntington Disease

Several studies have suggested that inflammation plays a role in Huntington disease (HD), and a recent review, published in Neural Regeneration Research, explored the anti-inflammatory and immunomodulatory agents that have been investigated as possible treatments for HD.

What We're Reading: Vision Loss Gene Therapy; Autism Spectrum Disorders; Dementia in the Hospital

January 3rd 2018

What We're Reading: Vision Loss Gene Therapy; Autism Spectrum Disorders; Dementia in the Hospital

New vision loss gene therapy gets a price tag below the expected $1 million mark; new evidence finds that the prevalence of autism spectrum disorders has plateaued; hospitals are ill-equipped to care for dementia patients, but a new effort could change that.

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