Change log

2.1

  • Item Is family member affected:

    In version 2.1, it was clarified that this item refers to a diagnosis of 5q SMA.

  • Record Affected family member:

    In version 2.1, it was clarified that this item refers to a diagnosis of 5q SMA.

  • Item Screening:

    In version 2.1, it was clarified that this item refers to a diagnosis of 5q SMA.

  • Record Genetic report:

    Since version 2.1, this record is no longer longitudinal and the item Genetic report date was added instead.

  • Item Symptom onset:

    In version 2.1, it was clarified that this item refers to symptoms reported by the individual or their family and that any symptoms which were not considered abnormal at the time, but can retrospectively be attributed to the disease, should be considered as well.

  • Item Scoliosis diagnosis:

    In version 2.1, it was clarified that this item specifies whether the patient has ever been diagnosed with scoliosis and the item was changed from longitudinal to datestamped.

  • Record Cobb angle:

    Since version 2.1, the item Cobb angle is no longer longitudinal and this record as well as the item Cobb angle date were added instead.

  • Item Scoliosis surgery performed:

    In version 2.1, this item was changed from longitudinal to datestamped.

  • Record Scoliosis surgery:

    Since version 2.1, this record is no longer longitudinal and the item Scoliosis surgery date was added instead.

  • Item Wheelchair usage:

    In version 2.1, it was clarified that this item and and the following record Wheelchair usage episode apply only to use of a wheelchair due to the individual's neuromuscular condition.

  • Item Wheelchair usage frequency:

    Before version 2.1, this item was erroneously marked as longitudinal.

  • Item Feeding tube usage:

    In version 2.1, it was clarified that this item and the following record Feeding tube usage episode apply only to feeding tube usage for feeding and due to the individual's neuromuscular condition.

  • Item Invasive ventilation usage:

    In version 2.1, it was clarified that this item and the following record Invasive ventilation episode apply only to ventilation use due to the individual's neuromuscular condition.

  • Item Non-invasive ventilation usage:

    In version 2.1, it was clarified that this item and the following record Non-invasive ventilation episode apply only to ventilation use due to the individual's neuromuscular condition.

  • Record Pulmonary function test result:

    Since version 2.1, this record is no longer longitudinal and the item Pulmonary function test date was added instead.

  • Item DMT received:

    In version 2.1, this item was changed from longitudinal to datestamped.

  • Record Anti-AAV9 antibody test:

    Since version 2.1, this record is no longer longitudinal and the item Anti-AAV9 antibody test date was added instead. Furthermore, it was clarified that this data should be collected for all patients, regardless of whether they have received Zolgensma or not.

  • Record Allopathic drug episode:

    In version 2.1, it was clarified that for one-time medications, including annual vaccinations, Start date and Stop date should both be equal to the administration date.

  • Record Hospitalisation:

    Since version 2.1 this record is longer longitudinal and the item Hospitalisation admission date was added instead.

  • Record Comorbidity:

    In version 2.1, it was clarified that the collection of details of all comorbidities that held during the reference periods specified in Comorbidities period is also mandatory for patient-reported registries.

2.0

  • Item First name at birth:

    In version 1, the first name at birth was to be captured in item 2.02 only when different from the current first name; from version 2.0 on, it must be captured in this item in any case. In version 2.0, this item was made mandatory for all registries.

  • Item Last name at birth:

    In version 1, the last name at birth was to be captured in item 2.04 only when different from the current last name; from version 2.0 on, it must be captured in this item in any case. In version 2.0, this item was made mandatory for all registries.

  • Item Sex at birth:

    In version 1, the sex assigned at birth was to be captured in item 2.06 only when different from the current sex; from version 2.0 on, it must be captured in this item in any case. In version 2.0, the value Intersex was added and this item was made mandatory for all registries.

  • Item Country of birth:

    In version 2.0, it was clarified that the ISO 3166-1 two-letter code is to be used and this item was made mandatory for all registries.

  • Item Place of birth:

    In version 2.0, this item was made mandatory for all registries.

  • Item Sex:

    In version 2.0, the value Intersex was added.

  • Item Country of residence:

    In version 2.0, it was clarified that the ISO 3166-1 two-letter code is to be used.

  • Item Is family member affected:

    In version 2.0, it was clarified that only genetically related family members are to be considered.

  • Record Affected family member:

    In version 2.0, item 2.21 from version 1 was replaced by this record in which the relation, the sex and the sex of the intermediate family member are split into separate items.

  • Item Alive:

    In version 2.0, the value Loss of follow-up was removed. In its place, the item was changed to being datestamped, which allows applying a specific criterion across all registries for judging loss of follow-up (for example, two years after the last contact).

  • Item Cause of death code:

    As of version 2.0, it is no longer possible to use the ICD-10 chapter headings instead of specific codes. However, registries are free to offer common causes of death in their data collection form which are automatically mapped to their respective codes.

  • Item Cause of death classification:

    This item was added in version 2.0 to allow for future use of other classifications than ICD-10.

  • Item Genetic confirmation:

    In version 2.0, it was clarified that this item applies to 5q SMA.

  • Item SMN1 variant:

    In version 2.0, the following changes were applied:

    • The terminology recommended in HGVS is used (for example, “substitution” instead of “point mutation”).
    • The reference to exon 8 was removed.
    • The value Homozygous substitution was added.
  • Item SMN1 variant HGVS:

    This item was added in version 2.0 to allow providing details in case of a substitution.

  • Item SMN1 testing method:

    In version 2.0, the option for other methods and the associated implicit free-text field were removed. However, registries may include them in their data collection forms as noted above.

  • Item SMN2 copy number:

    In version 2.0, the type was changed to restricted text with the specified format in order to allow providing ranges when the precise number is unknown.

  • Item SMN2 copy number testing method:

    In version 2.0, the option for other methods and the associated implicit free-text field were removed. However, registries may include them in their data collection forms as noted above.

  • Item SMN2 variant c859GtoC:

    This item was added in version 2.0.

  • Item SMN2 variant c859GtoC testing method:

    This item was added in version 2.0.

  • Item Symptom onset:

    In version 2.0, the following changes were made:

    • It was specified that At birth includes up to two weeks of age.
    • The value Asymptomatic was added.
    • The wording “At what age was it suspected that something might be different?” was removed in order to clarify that this item refers to the manifestation of symptoms, even in cases where the diagnosis is known beforehand (for example through screening).
  • Item SMA type:

    In version 2.0, the values 3a, 3b and Undetermined were added.

  • Item Clinician Global Impression of Severity:

    In version 2.0, the wording of the value descriptions was adapted.

  • Item Jaw contractures:

    This item was added in version 2.0.

  • Item Motor ability status:

    In version 2.0, this item replaced the items specified in version 1 as “For each motor function item, specify: Never able; Gained [...]; Gained and lost [...]”. As the new item is in a longitudinal record, it is thus possible to provide multiple ”snapshot” assessments, in particular when they are made by a clinician who can only judge the current status at each visit.

  • Record Motor ability episode:

    In version 2.0, this record replaced the items specified in version 1 as “age YY-MM” in case the ability was gained and “age gained YY-MM and age lost YY-MM” in case the ability was gained and lost. By providing more that once record instance, the episode structure also allows providing details in case an ability was regained.

  • Item Wheelchair usage:

    In version 2.0, the item was split into one item for a “snapshot” and an episode record for encoding the start and stop dates. Furthermore, it was clarified that assisted mobility devices similar to wheelchairs are to be included as well.

  • Item Feeding tube usage:

    In version 2.0, the item was split into one item for a “snapshot” and an episode record for encoding the start and stop dates.

  • Item Invasive ventilation usage:

    In version 2.0, the structure of the item was changed.

  • Item Airway clearance assistance:

    In version 2.0, the type of assistance was removed from the dataset.

  • Item Pulmonary function test performed:

    In version 2.0, this item was changed to apply to any pulmonary function test and not only to a forced vital capacity test because of the addition of the item Peak cough flow.

  • Item Peak cough flow:

    This item was added in version 2.0.

  • Item DMT single administration date:

    This item was added in version 2.0.

  • Item DMT stopping reason:

    In version 2.0, the option Lack of apparent benefit was renamed to Insufficient benefit and the options Scoliosis, Insufficient initial improvement and Loss of response were added.

  • Item DMT administration schedule deviation reason:

    The value Other and the related free-text field were removed from the dataset in version 2.0. However, registries may include them in their data collection forms as noted above.

  • Item DMT corticosteroid administration duration:

    This item was added in version 2.0.

  • Item DMT corticosteroid drug:

    This item was added in version 2.0.

  • Record Anti-AAV9 antibody test:

    These items were added in version 2.0.

  • Record Rehabilitative interventions:

    In version 2.0, these items were renamed from “Therapeutic interventions” to “Rehabilitative interventions”.

  • Item Rehabilitative interventions:

    The value Other and the related free-text field were removed from the dataset in version 2.0. However, registries may include them in their data collection forms as noted above.

  • Item Hospitalisation nights:

    This item was specified as “Number of days in hospital” in version 1. Due to the ambiguity, it has been changed in version 2.0 to designate the number of nights spent in hospital. In a registry that had previously collected this information in way that is related to the number of nights in a predictable way (for example, if a form asks for the number of started days, this would consistently be the number of nights plus one), the data should be converted accordingly.

  • Item Hospitalisation planned reason:

    The values Other orthopaedic surgery and Other reason and the related free-text fields were removed from the dataset in version 2.0. However, registries may include them in their data collection forms as noted above. Furthermore, the values Administration of Spinraza and Administration of other disease-modifying treatment for SMA (specify, free text) were removed in version 2.0 and replaced by Disease-modifying therapy as the type of therapy is already collected in the record DMT episode. Moreover, the values Surgical treatment of contractures and Checkup were added.

  • Item Hospitalisation SAE DMT:

    In version 2.0, the option “Other (specify, free text)” was removed because additional disease-modifying therapies will be added in future versions of the dataset when they become available.

  • Item Comorbidity code:

    As of version 2.0, it is no longer possible to use the ICD-10 chapter headings instead of specific codes. However, registries are free to offer common comorbidities in their data collection form which are automatically mapped to their respective codes.

  • Item Comorbidity SAE DMT:

    In version 2.0, the option “Other (specify, free text)” was removed because additional disease-modifying therapies will be added in future versions of the dataset when they become available.

  • Item Validated motor measure non-evaluation reason:

    The value Other and the related free-text field were removed from the dataset in version 2.0. However, registries may include them in their data collection forms as noted above.

  • Item Dominant hand:

    This item was added in version 2.0.

  • Item Patient Global Impression of Severity:

    This item was added in version 2.0.