MedTrace Logo

COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study

NCT04461444 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 350

Last updated 2021-09-10

No results posted yet for this study

Summary

ALMS and BBS syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus. There are to date no specific treatments available and limited information on the natural history of the diseases. the investigators aim to establish a French cohort for these diseases to improve patient care and assess the effect of actual therapies on quality of life.

The purpose of this study is to establish a cohort of Bardet-Bield syndrome (BBS) and ALström syndrome (ALMS) patients in order to formalize and address questions concerning the in-depth natural clinical and biological history of the disease on the long term for a given patient, establish the impact on the quality of life of various clinical manifestations

Conditions

Interventions

GENETIC

Skin biopsy

COBBALT is considered as an interventional with minor associated risks and constrains study due to the presence of skin biopsies that may not all be part of the usual medical practice. Risks are those linked to the biopsy procedure: * risk of pain due to the procedure performed under local anaesthesia * can leave a visible scar (about 2 x 1 cm)

Sponsors & Collaborators

  • University Hospital, Strasbourg, France

    lead OTHER

Study Design

Allocation
NA
Purpose
SUPPORTIVE_CARE
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
4 Months
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-06-16
Primary Completion
2025-02-28
Completion
2035-02-28

Countries

  • France

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04461444 on ClinicalTrials.gov