Expert Opinion on Orphan Drugs

Naegleria fowleri: diagnosis, treatment options and pathogenesis

Advances in the treatment of neuronal ceroid lipofuscinosis

Phenylketonuria in the adult patient

Treatment of Wilson’s disease – an update

The dark matter of diffuse intrinsic pontine gliomas: an update

Adult medulloblastoma: an overview on current and future strategies of treatment

An overview of the efficacy and safety of deferiprone in paediatric patients with congenital haemoglobinopathies and chronic iron overload

Current management strategies and the potential of inhaled GM-CSF for the treatment of autoimmune pulmonary alveolar proteinosis

The place of trabectedin in the treatment of soft tissue sarcoma: an umbrella review of the level one evidence

Uridine triacetate - an antidote in the treatment of 5-fluorouracil or capecitabine poisoning

How many zebras are there, and where are they hiding in medical literature? A literature review of publications on rare diseases

Current biochemical treatments of mitochondrial respiratory chain disorders

From pathogenesis to novel therapies in primary hyperoxaluria

Development and validation of an MCDA framework for evaluation and decision-making of orphan drugs in Spain

Recent developments with defibrotide for the treatment of hepatic veno-occlusive disease/sinusoidal obstruction syndrome

Perry disease: recent advances and perspectives

Blinatumomab for the treatment of acute lymphoblastic leukemia: an update

Inhibiting inflammatory cytokines in adult onset Still’s disease. Current trends and new therapeutic perspectives

Sydenham’s chorea: an update on pathophysiology, clinical features and management

Biotherapies-induced neutropenia in autoimmune and auto-inflammatory disorders and other orphan diseases

Alpha 1 antitrypsin deficiency: a rare multisystem disease, predominantly affecting the lung

Duodenal adenocarcinoma: neoadjuvant and adjuvant therapy strategies

Variability in management and outcomes of therapy with eculizumab in atypical hemolytic uremic syndrome

Advances in current and emerging therapeutics for gestational trophoblast malignancies

Progress and prospects for treating ataxia telangiectasia

The use of ibrutinib before and after allogeneic stem cell transplantation

Commonly setting biological standards in rare diseases

Management options for pediatric growth hormone deficiency

An update on treatment of ulcerative colitis

Current opinion in the molecular genetics of Adams-Oliver syndrome

Advances in potential treatment options for myeloproliferative neoplasm associated myelofibrosis

Amyloidosis in Australia

Progress in understanding Friedreich’s ataxia using human induced pluripotent stem cells

C syndrome - what do we know and what could the future hold?

Advances in diagnosis of von Willebrand disease

The potential of nitisinone for the treatment of alkaptonuria

Policy measures taken in Japan to improve the quality of life for patients with rare/intractable diseases

Current and emerging treatments for acute promyelocytic leukemia

An update on the progress of preclinical models for guiding therapeutic management of neuronal ceroid lipofuscinosis

Novel drug targets in idiopathic pulmonary fibrosis

What could gene therapies learn from orphan drugs’ post-regulatory approval access in the EU?

Update on the management of chronic myeloid leukemia: current best practice and future directions

Complications of levodopa therapy in Parkinson’s disease

Emerging treatments and therapeutic targets for tuberous sclerosis complex in children

Mucosal melanoma: current strategies and future directions

Pharmacological therapy in a rare disease: challenges in the long-term management of granulomatosis with polyangiitis

Current understanding of Lesch-Nyhan disease and potential therapeutic targets