NCT05818566

Brief Summary

The aim of this study is to report and describe all the patients with confirmed diagnosis of inherited metabolic disease (IMD) treated with orphan medicinal products (OMPs) in a cohort of adult patients followed in a reference center for rare diseases (Lausanne University Hospital, CHUV) from 2017-2022.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
39

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Oct 2022

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

October 1, 2022

Completed
6 months until next milestone

First Submitted

Initial submission to the registry

April 4, 2023

Completed
15 days until next milestone

First Posted

Study publicly available on registry

April 19, 2023

Completed
1 year until next milestone

Primary Completion

Last participant's last visit for primary outcome

May 1, 2024

Completed
5 months until next milestone

Study Completion

Last participant's last visit for all outcomes

October 1, 2024

Completed
Last Updated

December 4, 2024

Status Verified

November 1, 2023

Enrollment Period

1.6 years

First QC Date

April 4, 2023

Last Update Submit

December 3, 2024

Conditions

Inborn Errors of Metabolism

Keywords

Orphan DrugsInherited Metabolic Diseases

Outcome Measures

Primary Outcomes (4)

  • Specific diagnosis of Inherited Metabolic Diseases listed by their frequency

    Clinical outcome

    Day1

  • Age at diagnosis (years/months)

    Clinical outcome

    Day1

  • Current age (years/months)

    Clinical outcome

    Day1

  • Specific treatment for inherited metabolic diseases

    Treatment specific to each diseases including only OMPs

    5 years

Secondary Outcomes (1)

  • Gender (Male/Female)

    Day 1

Eligibility Criteria

Age16 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Outpatient clinic for Adult patients with IMD from the Lausanne University Hospital (Division of Genetic Medicine)

You may qualify if:

  • Age = or \> 16 years
  • Biological and/or genetically confirmed diagnosis of IMD

You may not qualify if:

  • Age \< 16 years
  • Document attesting refusal to participate

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Lausanne University Hospital

Lausanne, Canton of Vaud, 1011, Switzerland

Location

Related Publications (1)

  • Gariani K, Nascimento M, Superti-Furga A, Tran C. Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics. Orphanet J Rare Dis. 2020 Aug 18;15(1):210. doi: 10.1186/s13023-020-01471-z.

    PMID: 32811506RESULT

MeSH Terms

Conditions

Metabolism, Inborn Errors

Condition Hierarchy (Ancestors)

Genetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic Diseases

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
RETROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Principal investigator

Study Record Dates

First Submitted

April 4, 2023

First Posted

April 19, 2023

Study Start

October 1, 2022

Primary Completion

May 1, 2024

Study Completion

October 1, 2024

Last Updated

December 4, 2024

Record last verified: 2023-11

Locations

CH(1)