Rare Disease

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

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

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

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

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

October 28th 2024

More News

Regeneron to File for Evinacumab in Climate Where Cost Is the First Question Asked Despite Results
August 22nd 2019

Regeneron to File for Evinacumab in Climate Where Cost Is the First Question Asked Despite Results

Allison Inserro
Regeneron released positive phase 3 results for evinacumab, a drug for a rare form of deadly high cholesterol, and said it expects to seek FDA approval in 2020.
In a Surprise Decision, FDA Rejects Sarepta's Second Duchenne Drug
August 21st 2019

In a Surprise Decision, FDA Rejects Sarepta's Second Duchenne Drug

Jaime Rosenberg
In a highly anticipated decision, the FDA on Monday rejected accelerated approval for Sarepta Therapeutics’ second Duchenne drug, handing the drug maker a surprising blow that has some questioning the motivation behind the decision.
Blood Clots in MPN Related to Higher Cost, Length of Stay for Patients With MPN
August 17th 2019

Blood Clots in MPN Related to Higher Cost, Length of Stay for Patients With MPN

AJMC Staff
Blood clots, or venous thromboembolism, remains a leading causes of death and healthcare spending in patients with cancer.
FDA Approves Entrectinib for NTRK Fusion-Positive Solid Tumors and Rare Lung Cancer
August 16th 2019

FDA Approves Entrectinib for NTRK Fusion-Positive Solid Tumors and Rare Lung Cancer

Jaime Rosenberg
FDA's approval of entrectinib for neurotrophic tyrosine receptor kinase (NTRK) fusion-positive tumors represents a new paradigm in cancer treatment; It treats a cancer based on a common biomarker seen across different tumors rather than based on the location in the body where the cancer originated. The FDA also gave approval to entrectinib for the treatment of adults with metastatic non–small cell lung cancer whose tumors are ROS1 positive.
Internet Can Help People With Undiagnosed Rare Diseases, but Racial, Wealth Gaps Exist
August 9th 2019

Internet Can Help People With Undiagnosed Rare Diseases, but Racial, Wealth Gaps Exist

Allison Inserro
The study found that 24% of those who contacted a center specializing in rare kidney diseases would have gone undiagnosed if they had not reached out directly via the center's website.
FDA Approves First Treatment for Symptomatic Tenosynovial Giant Cell Tumor
August 5th 2019

FDA Approves First Treatment for Symptomatic Tenosynovial Giant Cell Tumor

Jaime Rosenberg
Daiichi Sankyo has received approval for its treatment for the rare joint tumor.
NCCN Publishes Guidelines for Small Bowel Adenocarcinoma
August 2nd 2019

NCCN Publishes Guidelines for Small Bowel Adenocarcinoma

Jaime Rosenberg
The National Comprehensive Cancer Network (NCCN) has published a set of recommendations for the treatment of small bowel adenocarcinoma, representing the first treatment guidelines in the United States for the rare type of cancer.
Polycythemia Vera Symptoms Not Linked to Blood Count Control, Study Says
August 2nd 2019

Polycythemia Vera Symptoms Not Linked to Blood Count Control, Study Says

Allison Inserro
A study of patients with polycythemia vera (PV) showed that the severity of individual symptoms was not affected by blood count control, with the exception of pruritus and night sweats.
What We're Reading: Medicare Executive Order; Breast Implant Recall; Antibiotic Misuse
July 25th 2019

What We're Reading: Medicare Executive Order; Breast Implant Recall; Antibiotic Misuse

AJMC Staff
President Trump is preparing an executive order that would slash prices on nearly all drugs sold to Medicare; Allergan has recalled certain breast implants following 573 cases of implant-associated anaplastic large cell lymphoma; a study has found 1 in 4 people intend to use antibiotics without a prescription.
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July 24th 2019

Senate Finance Committee Unveils Bipartisan Bill to Lower Drug Costs

Jaime Rosenberg
Spearheaded by Senate Finance Committee Chairman Chuck Grassley, R-Iowa, and Ranking Member Ron Wyden, D-Oregon, the bipartisan bill would lower out-of-pocket (OOP) costs for Medicare and Medicaid beneficiaries and save the government billions.
Report Shows How a t(15; 17) Aberration Typical of APL Was Really Myelofibrosis
July 20th 2019

Report Shows How a t(15; 17) Aberration Typical of APL Was Really Myelofibrosis

AJMC Staff
The authors said their case highlights how t(15; 17) by itself is never sufficient to diagnose acute promyelocytic leukemia (APL) without confirmation by other methods.
Amyloidosis Linked to Lower Long-term Survival Following Kidney Transplant
July 16th 2019

Amyloidosis Linked to Lower Long-term Survival Following Kidney Transplant

Jaime Rosenberg
Patients who had end-stage renal disease secondary to amyloidosis had poorer survival rates compared with patients with kidney disease secondary to other causes.
Tezacaftor, Ivacaftor Combination Generally Safe, Well Tolerated in Children With CF Under Age 12
July 12th 2019

Tezacaftor, Ivacaftor Combination Generally Safe, Well Tolerated in Children With CF Under Age 12

Jaime Rosenberg
Data from a phase 3 trial are supporting the use of tezacaftor in combination with ivacaftor for the treatment of cystic fibrosis (CF) in children aged 6 to 11 years, finding that the treatment combination was generally safe and well tolerated.
Burosumab Improves Symptom Relief in Genetic Rickets
July 5th 2019

Burosumab Improves Symptom Relief in Genetic Rickets

Jaime Rosenberg
A study comparing the efficacy of burosumab with conventional treatment—oral phosphate and active vitamin D—found that burosumab, which blocks FGF23, was significantly more effective in alleviating symptoms.
Examining Future Malignancies After a Secondary Myelofibrosis
July 4th 2019

Examining Future Malignancies After a Secondary Myelofibrosis

AJMC Staff
A recent study examined the association between patients with secondary myelofibrosis (SMF) and later development of nonhematological second primary malignancies (SPM).
AJMC® in the Press, June 28, 2019
June 28th 2019

AJMC® in the Press, June 28, 2019

AJMC Staff
Coverage of our peer-reviewed research and news reporting in the healthcare and mainstream press.
Soliris Gains FDA Approval for Neuromyelitis Optica Spectrum Disorder
June 28th 2019

Soliris Gains FDA Approval for Neuromyelitis Optica Spectrum Disorder

Allison Inserro
The FDA approved a fourth indication for Alexion Pharmaceuticals’ brand-name eculizumab (Soliris) for the treatment of neuromyelitis optica spectrum disorder (NMOSD) in adult patients who are anti-aquaporin-4 (AQP4) antibody positive.
Paul Melmeyer: Value of Rare Disease Therapies to Caregivers is Often Left Out of Value Assessments
June 24th 2019

Paul Melmeyer: Value of Rare Disease Therapies to Caregivers is Often Left Out of Value Assessments

Paul Melmeyer, director of Federal Policy, National Organization for Rare Disorders, discusses factors that have historically been underrepresented in value assessment frameworks for rare disease therapies.
Adding Hydroxyurea to Ruxolitinib Yields Higher Clinical Response in Myelofibrosis
June 20th 2019

Adding Hydroxyurea to Ruxolitinib Yields Higher Clinical Response in Myelofibrosis

Jaime Rosenberg
Adding hydroxyurea to the selective inhibitor of Janus kinase 1 and 2 could elicit a high clinical response and increased ruxolitinib exposure for patients with hyperproliferative forms of myelofibrosis.
Is Leukocytosis a Risk Factor for Thrombosis in Patients With Myeloproliferative Neoplasms?
June 19th 2019

Is Leukocytosis a Risk Factor for Thrombosis in Patients With Myeloproliferative Neoplasms?

Allison Inserro
Researchers recently conducted a systematic review and meta-analysis to examine whether leukocytosis is a risk factor for thrombosis in patients with myeloproliferative neoplasms.
Risdiplam and Final Thoughts
June 17th 2019

Risdiplam and Final Thoughts

Zolgensma and the START Trial for SMA
June 17th 2019

Zolgensma and the START Trial for SMA

Payer Perspective and Value of Treatment of SMA
June 17th 2019

Payer Perspective and Value of Treatment of SMA

Challenges of Payer Criteria and Cost of Therapy for SMA
June 17th 2019

Challenges of Payer Criteria and Cost of Therapy for SMA

Knowledge Among Payers and Payer Requirements for Rare Disease
June 17th 2019

Knowledge Among Payers and Payer Requirements for Rare Disease

ENDEAR Study, Patient Factors, and Drug Approval Criteria
June 17th 2019

ENDEAR Study, Patient Factors, and Drug Approval Criteria

Approval of Nusinersen for SMA
June 17th 2019

Approval of Nusinersen for SMA

Treatment Goals and Multidisciplinary Management of SMA
June 17th 2019

Treatment Goals and Multidisciplinary Management of SMA

Economic Burden and Challenges of Trial of SMA
June 17th 2019

Economic Burden and Challenges of Trial of SMA

Diagnostic Tests and Scales of SMA
June 17th 2019

Diagnostic Tests and Scales of SMA

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