Rare Disease

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

By Giuliana Grossi

February 28th 2025

Several rare disease patient populations received their first-ever FDA-approved drug since Rare Disease Day last year, signifying progress in closing treatment gaps for rare disease.

FDA approved. | Image Credit: Pawel - stock.adobe.com

FDA Approves Mirdametinib for Neurofibromatosis Type 1 With Plexiform Neurofibromas

By Giuliana Grossi

February 12th 2025

Gene therapy, gene editing concept | image credit: vchalup - stock.adobe.com

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

By AJMC Contributor

November 15th 2024

Patients with SMA and their caregivers stand to benefit from shared decision-making processes | image credit: Intelligent Horizons - stock.adobe.com

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

By Karen Jacobson-Sive

November 8th 2024

SMA type is a strong predictor of some oral functioning in affected patients | image credit: RTimages - stock.adobe.com

Oral Function Impairment Varies Across Adult Patients With SMA

By Karen Jacobson-Sive

October 28th 2024

More News

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.

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.

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.

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?

Heavy Healthcare Use Precedes Start of Acthar Injection for Patients With Rare Infantile Spasms

December 9th 2017

Heavy Healthcare Use Precedes Start of Acthar Injection for Patients With Rare Infantile Spasms

Infantile spasms are hard to diagnose, which can lead to treatment delays, according to the study authors.

FDA Approves New Treatment for Adults With Mantle Cell Lymphoma

November 1st 2017

FDA Approves New Treatment for Adults With Mantle Cell Lymphoma

Jaime Rosenberg

Mantle cell lymphoma is an aggressive type of non-Hodgkin lymphoma. Acalabrutinib (Calquence) is a kinase inhibitor that works by blocking an enzyme the cancer needs to multiply and spread.

October 18th 2017

The Case for Eliminating the Neutropenic Diet

Although there is no scientific evidence that a specific diet reduces risk of infection in patients experiencing neutropenia, it is a common strategy in cancer care. Research presented at the 42nd Annual Congress of the Oncology Nursing Society determined that the popular neutropenic diet can be eliminated from practice.

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