Longitudinal Data Collection from Patients with Spinal Muscular Atrophy (SMArtCARE)

First published 01/02/2024

Last updated 28/01/2025

Data source

Human

Disease registry

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The data source contains the following information

Disease information Does the data source collect information with a focus on a specific disease? This might be a patient registry or other similar initiatives.: Yes

Disease details: Spinal muscular atrophy

Rare diseases Are rare diseases captured? In the European Union a rare disease is one that affects no more than 5 people in 10,000.: Yes

Pregnancy and/or neonates Does the data source collect information on pregnant women and/or neonatal subpopulation (under 28 days of age)?: Yes

Hospital admission and/or discharge: Yes

ICU admission Is information on intensive care unit admission available?: No

Cause of death: Captured

Cause of death vocabulary: ICD-10

Prescriptions of medicines: Captured

Dispensing of medicines: Captured

Advanced therapy medicinal products (ATMP) Is information on advanced therapy medicinal products included? A medicinal product for human use that is either a gene therapy medicinal product, a somatic cell therapy product or a tissue engineered products as defined in Regulation (EC) No 1394/2007 [Reg (EC) No 1394/2007 Art 1(1)].: Yes

Contraception Is information on the use of any type of contraception (oral, injectable, devices etc.) available?: Yes

Indication for use Does the data source capture information on the therapeutic indication for the use of medicinal products?: Captured

Indication vocabulary: Other

Indication vocabulary, other: Only one indication encoded. We can derive subtypes from other variables and code them on orphacode (or ordo).

Medical devices Is information on medicinal devices (e.g., pens, syringes, inhalers) available?: Yes

Administration of vaccines: Yes

Procedures Does the data source capture information on procedures (e.g., diagnostic tests, therapeutic, surgical interventions)?: Captured

Procedures vocabulary: Not coded (Free text)

Clinical measurements Is information on clinical measurements (e.g., BMI, blood pressure, height) available?: Yes

Healthcare provider Is information on the person providing healthcare (e.g., physician, pharmacist, specialist) available? The healthcare provider refers to individual health professionals or a health facility organisation licensed to provide health care diagnosis and treatment services including medication, surgery and medical devices.: Yes

Genetic data Are data related to genotyping, genome sequencing available?: Captured

Genetic data vocabulary: Other

Genetic data vocabulary, other: Not coded (free text)

Biomarker data Does the data source capture biomarker information? The term “biomarker” refers to a broad subcategory of medical signs ( objective indications of medical state observed from outside the patient), which can be measured accurately and reproducibly. For example, haematological assays, infectious disease markers or metabolomic biomarkers.: Captured

Biomarker data vocabulary: Other

Biomarker vocabulary, other: Not coded (free text)

Patient-reported outcomes Is information on patient-reported outcomes (e.g., quality of life) available?: No

Patient-generated data Is patient-generated information (e.g., from wearable devices) available?: Yes

Units of healthcare utilisation Are units of healthcare utilisation (e.g., number of visits to GP per year, number of hospital days) available or can they be derived? Units of healthcare utilisation refer to the quantification of the use of services for the purpose of preventing or curing health problems.: Yes

Unique identifier for persons Are patients uniquely identified in the data source?: Yes

Diagnostic codes: Captured

Diagnosis / medical event vocabulary: ICD-10

MedDRA

Medicinal product information: Captured

Medicinal product information collected: Active ingredient(s)

Brand name

Dose

Route of administration

Medicinal product vocabulary: ATC

Quality of life measurements: Captured

Quality of life measurements vocabulary: Not coded (Free text)

Lifestyle factors: Not Captured

Sociodemographic information: Captured

Sociodemographic information collected: Age

Gender