Rare Disease

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5 Rare Disorders Named for Pioneering Female Scientists

May 23rd 2025

Explore 5 rare genetic and neurological disorders named after pioneering women in medicine, highlighting their significant contributions to previously unknown conditions.

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5 Rare Diseases That Now Have Their First FDA-Approved Treatments

February 28th 2025

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FDA Approves Mirdametinib for Neurofibromatosis Type 1 With Plexiform Neurofibromas

February 12th 2025

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Delandistrogene Moxeparvovec Fails to Meet Primary End Point in Phase 3 Study

November 15th 2024

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Shared Decision-Making Is Essential Prior to SMA-Enhancing Treatments

November 8th 2024

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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

Kelly Davio
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

Kelly Davio
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.
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March 26th 2018

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

Mary Caffrey
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

Kelly Davio
Currently, the FDA is evaluating 2 investigational drugs, both of which treat the underlying pathophysiology of hereditary transthyretin amyloidosis.
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March 15th 2018

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

Mary Caffrey
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

Kelly Davio
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

AJMC Staff
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

Kaitlynn Ely
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

Kelly Davio
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

Kelly Davio
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

Kelly Davio
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

Kaitlynn Ely
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

Kelly Davio
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

Kelly Davio
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

Kelly Davio
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

Mary Caffrey
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

Kelly Davio
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

AJMC Staff
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

Kelly Davio
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

AJMC Staff
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.
Cancer Gene Profiling Test Can Open Doors to New Targeted Therapies
December 27th 2017

Cancer Gene Profiling Test Can Open Doors to New Targeted Therapies

Jaime Rosenberg
While FoundationOne CDx, the comprehensive companion diagnostic test for solid tumors, gives patients the ability to be accurately matched with a targeted therapy, it also has potential benefits for patients with a less common types of cancers, said Stuart Goldberg, MD, chief scientific officer, Cota, in an interview with The American Journal of Managed Care®.
FDA Approves Gene Therapy for Inherited Vision Loss
December 20th 2017

FDA Approves Gene Therapy for Inherited Vision Loss

Allison Inserro
The FDA approved Spark Therapeutics Inc.’s voretigene neparvovec-rzyl (Luxturna), the first gene therapy for inherited vision loss caused by faulty gene mutations.
Diagnosing Non-Chemotherapy Drug-Induced Neutropenia
December 16th 2017

Diagnosing Non-Chemotherapy Drug-Induced Neutropenia

Laura Joszt, MA
In a session at the 59th American Society of Hematology Annual Meeting and Exposition in Atlanta, Georgia, Brian Curtis, PhD, of the BloodCenter of Wisconsin Blood Research Institute, highlighted drugs other than chemotherapy that may cause neutropenia in patients.
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December 13th 2017

New Treatment Paradigm Supersedes ABVD in Advanced Hodgkin Lymphoma: The ECHELON-1 Study

Surabhi Dangi-Garimella, PhD
Including the modified brentuximab antibody in the treatment regimen improved modified progression-free survival by 5%, although the rates of neutropenia and infections were higher in patients administered the brentuximab-containing regimen.
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December 11th 2017

Balancing Hospice Utilization With the Need for Transfusion in Leukemia

Surabhi Dangi-Garimella, PhD
Is transfusion dependence a barrier to hospice utilization among older patients with leukemia who are enrolled in Medicare?
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