Actively Recruiting
Biomarker Research in Inherited Movement Disorders
Led by Assistance Publique - Hôpitaux de Paris · Updated on 2024-04-12
4000
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Inherited movement disorders are rare and progressive conditions that can significantly affect autonomy over time. These disorders include spinocerebellar ataxias and various hyperkinetic disorders such as dystonias, choreas, tremor, parkinsonism, and myoclonus. The study focuses on understanding the clinical spectrum, genetic factors, natural history, and molecular basis of these diseases, aiming to develop biomarkers and support clinical and genetic management. The project also seeks to prepare patient groups ready for clinical trials and evaluate new symptomatic or mechanism-based therapies. Participants will undergo clinical follow-up involving demographic and medical history collection, neurological and clinical examinations, and use of rating scales specific to their condition. Optional procedures include cerebral MRI scans and biological sample collection. This observational study involves patients with inherited hyperkinetic movement disorders, at-risk individuals related to patients, and healthy controls, with some participants optionally undergoing skin biopsies or MRI examinations. Throughout the study, researchers will evaluate clinical, genetic, biological, and imaging biomarkers over a 10-year period to characterize disease progression and phenotype-genotype correlations. Participants will be monitored through interviews, neurological exams, rating scales, and optional imaging and biological assessments. The study aims to collect comprehensive data to support future therapeutic trials and improve diagnosis and patient care for these rare movement disorders.
CONDITIONS
Brief Title
Biomarker Research in Inherited Movement Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Affiliated with a social security system or beneficiary of such a regime
- For patients: clinical diagnosis of inherited hyperkinetic movement disorders, with or without genetic diagnosis
- Age 7 years or older
- Signed informed consent by the patient or legal guardian
- For at-risk individuals: age 18 years or older, first-degree relative of a patient or carrier of a pathogenic genetic variant, normal neurological exam, signed informed consent
- For healthy controls: age 18 years or older, free of known neurological disease and symptoms, signed informed consent
- Ability to undergo skin biopsy if elective participant and age 10 years or older
- Ability to undergo MRI examination if elective participant
You will not qualify if you...
- Person deprived of liberty by judicial decision
- Contraindications to MRI including metallic implants, pacemaker, artificial heart valve, brain vascular malformations, aneurysm clips, metallic fragments, artificial implants, stimulators, insulin pump, epilepsy, metallic contraceptive device, claustrophobia
- Contraindications to skin biopsy including anticoagulant or antiplatelet medication use, history of bleeding disorders, or hemorrhagic risk confirmed by coagulation tests (optional)
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 10 years
Participants who undergo routine care are observed with clinical evaluations including demographic data, medical history, neurological examination, and rating scales specific to their condition. Optional procedures may include cerebral MRI and biological sample collection.
Periodic visits depending on participant status and study requirements
Trial Site Locations
Total: 1 location
1
Hôpital Pitié Salpetrière
Paris, France, 75013
Actively Recruiting
Research Team
A
Alexandra DURR, PUPH
M
Mariana ATENCIO-SEGURA
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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