Background

Aplastic anaemia (AA) is a rare but serious bone marrow failure syndrome (BMFS) with a high morbidity and mortality rate. AA is a diagnosis of exclusion and defined as pancytopenia with a hypocellular bone marrow, absence of an abnormal marrow infiltrate and no increase in reticulin. Patients commonly present with symptoms of anaemia, skin and mucosal bleeding or retinal haemorrhage. Infection is a less common presentation.

The term Aplastic Anaemia is usually understood to refer to the acquired disease, however there are also inherited BMFS (IBMFS) that can mimic the presentation of AA. Both AA and IBMFS are rare conditions but are increasingly recognised as distinct entities, especially now with greater access to molecular diagnostics.

Conducting clinical trials for these patient populations is hampered due to the rarity of the conditions, so registries play important roles in understanding the clinical journey and long-term outcomes of patients with AA and BMFS.

Aims

  • Better define the incidence of acquired and inherited BMFS and Hereditary Predisposition to Haematological Malignancy (HPHM) in Australia
  • Provide information on the range of therapeutic strategies being employed in the treatment of acquired and inherited BMFS and HPHM , including IST, HSCT and supportive care
  • Document the specific genetic causes that underlie IBMF and HPHM in Australia
  • Explore factors influencing clinical outcomes
  • Investigate the relationship of PNH clones to progress of disease and response to therapy in AA
  • Better define optimal management of BMFS and HPHM
  • Collaborate with international researchers (i.e. registries) to collate de-identified patient data in the setting of rare diseases
  • Inform and inspire future hypothesis-driven research in this area

Data Collection

Data will be collected through routine clinical visits and will not require the collection of any extra non-clinical information.

The following categories of data items will be collected:

  • Health at diagnosis
  • Demographic details (name, DOB, gender and genetic ethnicity)
  • Family history
  • Pregnancy history and fertility preservation
  • Clinical presentation
  • Laboratory and imaging data such as blood test, tissue results, radiological images and reports at initial presentation and diagnosis and at the times during follow-up described above. Genetic testing results for both somatic and inherited genetic changes will also be sought.
  • Therapy decisions
  • Outcomes including details of any relapse, complications (of therapy or condition), performance status indicators, disease progression and overall survival

Participating Sites

Victoria

Alfred Hospital

Austin Hospital

Box Hill Hospital

Geelong Hospital

Monash Medical Centre

Royal Children’s Hospital

Royal Melbourne Hospital

St Vincent’s Hospital, Melbourne

Western Hospital

New South Wales

Calvary Mater Newcastle

Children’s Hospital at Westmead

Concord Hospital

Gosford Hospital

Liverpool Hospital

Nepean Hospital

Prince of Wales Hospital

Royal North Shore Hospital

Royal Prince Alfred Hospital

St George Hospital

St Vincent’s Hospital, Sydney

Sydney Children’s Hospital

Westmead Hospital

Wollongong Hospital

Queensland

Queensland Children’s Hospital

Royal Brisbane and Women’s Hospital

Princess Alexandra Hospital

Townsville Hospital

 

Tasmania

Royal Hobart Hospital

Launceston General Hospital

 

Australian Capital Territory

Canberra Hospital

Western Australia

Fiona Stanley Hospital

Royal Perth Hospital

Perth Children’s Hospital

 

South Australia

Royal Adelaide Hospital

The Queen Elizabeth Hospital

Flinders Medical Centre

Women and Children’s Hospital