Amicus Therapeutics has received approval from the European Commission (EC) for Opfolda (miglustat), its treatment for Pompe disease, a rare disorder that causes progressive muscle weakness. The approval specifically covers the drug in combination with Pombiliti (cipaglucosidase alfa). Results from a recent phase 3 study showing positive changes in mobility and breathing, both affected by the disorder, supported the EC’s decision.
In a recent interview with Clinical Leader, Harsha Rajasimha, PhD, of the Indo US Organization for Rare Diseases (IndoUSrare) talks about the challenges facing rare disease research and how the use of patient registries can accelerate research and clinical development. Patient registries allow the collection of real-world data (RWD) that can be used in research, but doing so requires collaboration between all stakeholders.
OPKO Health and Pfizer’s Ngenla, a treatment for childhood growth hormone deficiency, has received approval by the US Food and Drug Administration (FDA). The treatment for the rare disease, which causes short stature and delayed puberty, had been rejected once by the agency with a request for more information.
UCB’s Rystiggo (rozanolixizumab-noli), a treatment for two subtypes of generalized myasthenia gravis (gMG), has been approved by the US Food and Drug Administration (FDA). Muscle weakness episodes in the rare autoimmune disease is caused by antibodies that cling to proteins at the connection site between nerves and muscles. Rystiggo, an antibody-based treatment, reduces circulating antibodies and reduces symptoms.
Ipsen’s drug Bvlay has gotten its second approval for itching (pruritis) in a rare liver disease, this time in Alagille syndrome. The drug had previously been approved for progressive familial intrahepatic cholestasis. Another indication may be on the way in the near future, as Ipsen is currently in late-stage testing for the drug in a childhood liver disorder.
The US Food and Drug Administration (FDA) relies on recommendations from its several advisory committees when weighing whether to approve a drug. However, Congress is placing extra scrutiny on the composition of these committees when debating orphan drugs, as laid out in an explanatory statement in the 2023 FY Consolidated Appropriations Act. Currently, they are expected to be populated with experts in the general field, but there is no provision to make sure rare disease experts are on the panel.
NHS England has announced it is developing a new service to help fast-track diagnoses and care for people with a set of rare genetic brain diseases called inherited white matter disorders (IWMDs). Patients will be reviewed by a group of specialists and undergo genetic testing, getting referred to neurologists if an IWMD is expected.
The UK’s National Institute for Health and Care Excellence (NICE) has issued a draft guidance recommending the approval of Upstaza, PTC Therapeutic’s gene therapy for aromatic L-amino acid decarboxylase (AADC) deficiency. The gene therapy, if approved, would cost £3 million and would be the only treatment for the ultra-rare disorder.
Incyte notched a win today, March 23rd, with accelerated approval for retifanlimab, its treatment for a rare, aggressive skin cancer called Merkel cell carcinoma. The approval comes after patients single-arm study achieved a 52% response rate, with 18% seeing a complete response. These responses were durable out to almost 25 months in some patients.
The US Food and Drug Administration (FDA) has released a hold blocking a Phase I/IIa clinical trial testing an increased dose of STK-001, Stoke Therapeutics’ drug candidate for Dravet syndrome. Dravet syndrome is a rare form of severe childhood epilepsy that comes with a short life expectancy and developmental delays.
Sanofi is marking this year’s Rare Disease Day, February 28th, with its new “This is Rare” campaign, which will feature the voices of patients living with rare diseases. The campaign is part of a large push by the company and others to develop therapeutics for the rare disease community, which accounts for one in seventeen people in the UK.
Avidity Biosciences’ treatment for a rare muscular dystrophy called facioscapulohumeral muscular dystrophy (FSHD) has been given orphan drug status by the US Food and Drug Administration (FDA). The drug, if approved, would be the first for the disease, which results in deterioration of muscle function beginning in the upper extremities.
Kite has announced that its CAR T-cell therapy for relapsed/refractory B-cell acute lymphoblastic leukemia (R/R B-ALL), a rare blood cancer with low survival rates, helped improve overall survival in 3-year follow-up data. Patients given the treatment had a median survival of 26 months, with 47% of patients alive at 36 months.
The US Food and Drug Administration has granted Orphan Drug Designation (ODD) to GSK’s Benlysta (belimumab). The designation applies to the use of Benylsta in treating the interstitial lung disease (ILD) associated with systemic sclerosis (SSc), a rare autoimmune connective tissue disorder. The drug is currently approved for treating active lupus and lupus nephritis.
Boehringer Ingelheim revealed new results from its Phase IIb EFFIOSAYIL 2 trial that shows its new antibody-based therapeutic Spevigo can prevent flare-ups in a rare and severe form of psoriasis, generalized postular psoriasis (GPP). The drug is the first treatment to be approved for the disabling and sometimes life-threatening condition.
Policies regarding orphan drug designations for a group of rare genetic eye diseases called inherited retinal dystrophies are changing, according to the European Medicines Agency (EMA). The changes would target terminology regarding the categories of disorders that are covered under the orphan drug designation, allowing drugs to be submitted into one or more of four subgroups.
The French biopharma company Ipsen has announced the future acquisition of Albireo, a company specializing in drugs for rare diseases. A key drug Ipsen will gain from the deal is Bylvay, a drug used to treat rare pediatric liver diseases, including children with pruritus in progressive familiar intrahepatic cholestasis (PFIC).
Enzyvant and Altavant have announced plans for a merger, which will take on the name of the former. The new company will have a facilities to manufacture regenerative medicines for rare diseases, particularly in immunology and cardiopulmonology. The combined Envyzant intends to build on its track record in the rare disease therapeutics space.
New therapies for rare and orphan diseases have greatly improved in recent years, greatly improving outcomes for millions of patients. However, these treatments are often expensive, with 20% of drug spending going towards orphan drugs. In a panel at last week’s Academy of Managed Care Pharmacy (AMCP) Nexus 2022, speakers talked about how improved utilization management strategies could help optimize treatment prioritization for expensive therapies.
Pfizer is having another executive shakeup. Andy Schmeltz will leave his role as global president of oncology at Pfizer to take on a new role of managing the pharma juggernaut’s investment strategies. Suneet Varma will leave his position as the head of Pfizer’s rare disease division to fill in Schmeltz’s former role.