Looking Back at the Orphan Drugs Act
In 1983, the US Congress passed the Orphan Drug Act (ODA) that offers financial incentives for developing drugs for rare diseases that have limited, if any, approved therapeutics. A new study published in the Orphanet Journal of Rare Diseases explores the impact that the ODA has had on the field of rare diseases over the past 40 years.
US FDA Still Mulling Over Sarepta’s Duchenne’s Gene Therapy
The US Food and Drug Administration (FDA) has yet to make a call on Sarepta Therapeutics’ gene therapy for Duchenne muscular dystrophy, although it appears to be leaning towards a limited “yes”. As a result, the agency has pushed back its decision from May 29th to June 22nd. Deliberations will continue in the meantime, and some expect approval for a limited age range.
Value in Health Regional Affairs: Developing Generic Drugs for Rare Diseases
Orphan drug development in the US and EU languished for years due to high development costs and low sales until it was bolstered by legislative action. While this has brought powerful therapeutics to patients, these drugs are still prohibitively expensive. In a new Value in Health: Regional Issues article, learn about the challenges of developing generic orphan drugs and the value they could bring to patients and drugmakers.
US FDA Approves Gene Therapy for “Butterfly Children”
The US Food and Drug Administration (FDA) has approved Krystal Biotech’s Vyjuvek, the first gene therapy for dystrophic epidermolyis bullosa (DEB), a rare disease that leaves affected patients, dubbed “butterfly children” with skin that damages extremely easily and heals poorly. The treatment, which would cost $24,250 per dose, is applied to wounded skin, delivering a collogen gene that is missing in patients.
Orphan Drug Status Plays into Drug Pricing
Orphan drugs, treatments for rare diseases with limited therapeutic options, are usually less profitable for pharma companies due to high development costs and small patient populations. However, orphan drug designation (ODD) offers monetary incentives to companies developing drugs for rare diseases. As a result, ODD plays a role in pharma drug pricing decision-making.
FDA Adcomm Tentatively Recommends Sarepta’s Duchenne Muscular Dystrophy Gene Therapy
An advisory committee for the US Food and Drug Administration (FDA) has voted 8 to 6 to recommend accelerated approval for Sarepta Therapeutics Duchenne muscular dystrophy gene therapy. The narrow vote comes despite concerns from several regulators about the treatment’s benefit-risk profile and data supporting the application.
PTC’s Phenylketonuria Treatment Meets Phase III Endpoint
PTC Therapeutics announced positive results from a phase III clinical trial for its drug sepiapterin in the treatment of phenylketonuria (PKU), a rare disease causing excessive accumulation of the amino acid phenylalanine. The drug met the primary endpoint of reducing blood levels of phenylalanine in both adult and pediatric PKU patients in the trial.
Drugmakers Are Putting Family-Funded Rare Disease Therapeutic Research on Hold
Families of patients have often led funding for rare disease therapeutic development through donation campaigns. However, many drugmakers have put these programs on hold, with 26 rare disease projects shelved in the past 16 months. This has caused an outcry from patient advocates. Pharma analysts argue financial reasons are to blame.
Improving Clinical Trials for Rare Disease Therapeutics
With millions worldwide living with rare diseases that have few or no current therapeutic options, clinical trials are essential in treating the conditions faced by this diverse patient population. However, running these trials are expensive, hard to recruit for, and often require novel trial formats to account for small participant pools. Regardless, hope is on the horizon for patients.
Using AI to Streamline Rare Disease Diagnosis
It can take years for patients with rare diseases to get a proper diagnosis, often worsening their condition in the process. Artificial Intelligence (AI) may represent a way to help streamline proper diagnoses of rare diseases, improving patient outcomes in the process. In a new pharmaphorum article by Dr. Peter Fish, learn more about how Mendelian’s Mendelscan technology can aid in diagnosis.
US FDA to Review Ipsen’s Rare Bone Growth Disease Therapy
The US Food and Drug Administration (FDA) has set a date to decide on Ipsen’s new drug application for its drug candidate palovarotene in the treatment of fibrodysplasia ossificans progressive (FOP), a rare disorder where extra-skeletal tissues like muscles and tendons are converted into bone tissue. This would be the first therapy for the disabling, progressive condition.
Advancing Rare Disease Drugs Through Real-World Evidence
Patients with rare diseases often suffer with few effective treatment options. Therapeutic development for these drugs targeting rare diseases increasingly depends on real-world evidence (RWE). In a new IQVIA blog, learn more about efforts in the UK to advance the development of drugs for rare diseases through the careful use of RWE.
Operation Warp Speed for Rare Diseases is on the Way
Director Peter Marks of the US Food and Drug Administration’s (FDA’s) Center for Biologics Evaluation and Research has announced the next stage of Operation Warp Speed, a program intended to find cures and treatments for rare diseases. The program will support drugmakers developing drugs for rare diseases and will establish close lines of communication between companies and the agency to expedite the process.
Sanofi’s Pompe Disease Therapeutic Now Accessible to NHS Patients
The drugmaker Sanofi announced that patients with Pompe disease, a rare disease that progressively damages the heart and muscles, will now have access to its long-term enzyme replacement therapy through the NHS. The drug was markedly more effective than the standard of care in preserving respiratory function than the current standard of care.
Orphan Drugs Lead Specialty Medication FDA Approvals
Specialty medications currently lead the charts in terms of new drug approvals by the US Food and Drug Administration (FDA). On top of the heap are orphan drugs, treatments for rare diseases or those with no current therapeutics. In a new Pharmacy Practice News article, learn more about the orphan drugs in the approval pipeline for 2023.
Using the UK’s Innovative Medicines Fund to Accelerate Rare Disease Drug Development and Access
The UK’s Innovative Medicines Fund (IMF) was started in collaboration with the NHS England and National Institute for Health and Care Excellence (NICE) to provide novel medicines with unresolved uncertainties to patients with rare non-cancer diseases that have little treatment options. In doing so, the program is intended to incentivized development of drugs for rare diseases, or orphan drugs.
Ipsen CEO Talks Rare Disease Therapeutic Development and the Risks of Gene Therapy
David Loew, CEO of Ipsen, spoke at the JP Morgan Healthcare Conference about his outlook on the rare disease field. Loew noted that Ipsen was leaning into the market full-steam, regardless of pressure from Big Pharma companies attempting to crowd the space. That said, the CEO was more cautious on the gene therapy and neuroscience fronts.
Chiesi Acquires Amryt Pharma in $1.48B Deal to Broaden Rare Disease Efforts
Chiesi Farmaceutici S.p.A and Amyryr Pharma Plc have announced a new deal wherein the former will acquire the latter in an all-cash transaction topping $1.48 billion. The deal would provide Chiesi access to Amryt’s drug pipeline, with a focus on broadening its efforts in therapeutic development for treatments for rare diseases.
Connecting Payers to Patients with Rare Diseases
Patients with rare diseases often require complex, expensive medications that may or may not be on their payer’s formulary. In a recently published paper in Future Medicine, Siva Narayanan put forward a payer-patient engagement framework (PPEF) intended to connect rare disease patients with payers to make informed reimbursement decisions based on the individual's needs.
Market Analysts Eye Rare Disease Drug Development as the FDA Asks for Public Comments on Rare Disease Cures Program
The US Food and Drug Administration (FDA) released a request for public comments last week on its Accelerating Rare Disease Cures Program, signaling growing market interest to Wall Street analysts. The announcement comes as therapeutics for rare diseases account for over half of novel drug approvals in the US. Comments must be submitted to the agency before January 31st, 2023.
Orphan Drug Credits Make It onto Short-Term US Government Spending Bill
As a government shutdown looms large in US politics, certain pharma favorites have made it into a short-term continuing resolution. Key among these is the DeLauro bill, which includes nearly $7 million in funding for rare diseases and orphan drugs research. This program is a long-standing provision, funding work in rare diseases since 1983.
No Word from US FDA on Orphan Drug Exclusivity
The US Food and Drug Administration (FDA) is maintaining silence after losing a case last year over exclusivity of an orphan drug. In the case, and appeals court ruled the agency was wrong in approving a rare disease drug that shared its main ingredient with an existing orphan drug with exclusivity. As the silence continues, industry leaders worry about orphan drug exclusivity going forward, especially with the impending drug pricing reform from the Inflation Reduction Act.
Leadiant Biosciences Fined in Spain for Price Gouging Rare Disease Drug
Spain’s Comisión Nacional de Los Mercados y la Competencia (CNMC) has fined Leadiant Biosciences €10.3 million for jumping the price of a therapeutic for the rare disease cerebrotendinous xanthamatosis (CTX). The company is accused by regulators of increasing the cost of chenodeoxycholic acid (CDCA), used to treat CTX, far faster than increases in similar drugs.
Ciitizen Real-World Data Platform Used in Regulatory Filing for Precision Medicine Regulatory Filing
Praxis Precision medicine announced that its Investigational New Drug Application (IND) for it’s novel early-onset SCN2A epileptic encephalopathy drug (SCN2A-DEE) utilized real-world data from Invitae’s Ciitizen platform. Ciitizen helps accelerate the process of data collection for rare disease therapeutic development. In the development of PRAX-222, the therapeutic in question, Ciitizen compiled the largest dataset of its kind using, in part, electronic health records (EHR) from patients with SCN2A-DEE.
BioGene Scores NICE Approval for Rare Lymphoma Drug Brukinsa
The UK’s National Institute for Health and Care Excellence (NICE) has approved BioGene’s drug Brukinsa for patients with Waldenstrom macroglobulinemia (WM), a rare form of B-cell lymphoma. The drug, approved for the same purpose last year in the US, will meet a previously unmet need due to issues with the current standard of care.
