(also see: C1. Protocol, page 9, paragraph 2)Primary: Creating a metabolic bio-database with body material of patients with inherited metabolic diseases, combined with clinical data.Secondary: Achieve better participation in national and…
ID
Source
Brief title
Condition
- Metabolic and nutritional disorders congenital
- Hepatic and hepatobiliary disorders
- Inborn errors of metabolism
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
(also see: C1. Protocol, page 11, paragraph 5.1.1)
A metabolic bio-database, with DNA, blood samples, urine samples, faeces
samples and hair samples from patients with inherited metabolic diseases,
combined with the clinical and physical data.
Secondary outcome
(also see: C1. Protocol, page 11 and 12, paragraph 5.1.2)
Clinical data: medication, history and symptoms, radiology data, other medical
information such as endoscopies and surgery reports, and ECG.
Disease specific or general questionnaires.
Physical data: physical disabilities, neurological disorders, anthropometry,
blood pressure, eye-hand coordination, activity level and pain level, and
fundus.
Background summary
Little is known about the natural history of most rare inherited metabolic
diseases. The mortality in childhood is still significantly high. For many
diagnoses limited research has been done on the treatment of rare hereditary
metabolic diseases in adulthood. It is important to create a biobank with
linked patient characteristics. It is easier and faster than to let patients
participate in (inter) national research, and to conduct prospective research
into the natural course of a disease.
Additional measurement of quality of life, eye-hand coordination, activity and
pain level in patients with inherited metabolic diseases and in the healthy
population by contrast will increase our knowledge of inherited metabolic
diseases.
Study objective
(also see: C1. Protocol, page 9, paragraph 2)
Primary:
Creating a metabolic bio-database with body material of patients with inherited
metabolic diseases, combined with clinical data.
Secondary:
Achieve better participation in national and international studies.
Study quality of life, eye-hand coordination, pain and activity in cases and
controls.
Study design
(also see: C1. Protocol, page 10, paragraph 3)
This prospective case control study will create a metabolic bio-database and
will compare the quality of life, eye-hand coordination, activity and pain
level in patients of rare inherited metabolic diseases to the general healthy
population.
Study burden and risks
(also see: C1. Protocol, page 16, paragraph 8.3)
Participants will be asked to have a lock of hair cut off, fill in
questionnaires, wear an activity meter, enter pain scores into the watch, and
keep a diary. A hematoma and a small risk of infection may occur after
venapunction.
There is no direct benefit for cases and controls. We aim to increase our
knowledge about inherited metabolic diseases.
Westzeedijk 353
Rotterdam 3015 AA
NL
Westzeedijk 353
Rotterdam 3015 AA
NL
Listed location countries
Age
Inclusion criteria
(see Protocol C1. page 10-11, paragraph 4.2 Inclusion criteria)
- Age >= 16 years.
- Written informed consent.
- Cases: capacitated and incapacitated patients with a rare inherited metabolic
disease, who are in care at UMCs and satellite expert centers.
- Controls: healthy siblings and/or unrelated neighbors/ friends/ partners of
the patients selected via the cases.
List of diagnosis groups based on current patient population in the UMCs:
- Urea cycle defects
- Disorders of amino acid metabolism
- Phenylketonuria
- Homocystinuria
- Glycogen overloading diseases
- Mitochondropathy
- Lysosomal overloading diseases
- Fatty acid oxidation disorders
- Disorders of glycosylation
- Galactosemia
- Peroxisomal disorders
- Congenital hyperinsulinism
- Porphyrias
- Lipoprotein deficiencies
- Disorders of vitamin metabolism
- Disorders of glycosylation (CDG)
- Rest of rare inherited metabolic diseases
Exclusion criteria
(see Protocol C1. page 11)
No signed 'informed consent' present.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL83254.078.22 |