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Search / Trial NCT04880356

Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.

Launched by FONDAZIONE I.R.C.C.S. ISTITUTO NEUROLOGICO CARLO BESTA · May 6, 2021

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Trial Information

Current as of June 26, 2025

Recruiting

Keywords

Leukodystrophies, Adrenoleukodystrophy, Metachromatic Leukodystrophy, Krabbe Disease, Vanishing White Matter Syndrome, Alexander Disease, Hereditary Leukodystrophy With Spheroids (Csf1 R Related Hlds), Nasu Hakola Disease (Trem2 And Tyrobp Related Disease) Leukoencephalopathy, Progressive, With Ovarian Failure (Lkenp, Aars2 Related), Pelizaeus Merzbacher Disease, Pelizaeus Merzbacher Like Disease, Hypomyelinating Leukodystrophies, Leukodystrophies With Calcifications And Cysts (Lcc), Leukoencephalopathy With Ataxia Disease (Lkpat, Clcn2 Related), L 2 Hydroxyglutaric Aciduria, Polyglucosan Bodies Disease, Methylmalonic Acidemia With Homocystinuria, Niemann Pick Type C, Fahr's Disease, Wilson's Disease, Cerebrotendinous Xanthomatosis, Sphingolipidoses

ClinConnect Summary

The Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases is a research trial aimed at learning more about very rare inherited conditions that affect the brain and nervous system. These conditions are so uncommon that fewer than 5 out of 100,000 people are affected. The study will collect detailed information over time about the health, laboratory tests, and medical imaging of adults with these diseases. This research hopes to improve our understanding of these conditions and how they impact patients.

To participate in this study, individuals must be at least 18 years old and either have an ultra-rare inherited neurological disease or have a neurological condition that doctors suspect may be inherited but has not yet been diagnosed. There are no specific exclusions, so many people with these conditions may be eligible. Participants can expect to contribute important information that could help improve care for others with similar diseases. This study is currently recruiting participants of all genders, so if you or someone you know fits the criteria, it might be an opportunity to consider.

Gender

ALL

Eligibility criteria

  • Inclusion Criteria:
  • • Age \>= 18 years
  • • Subjects with ultra-rare inherited degenerative and metabolic neurological diseases
  • • Subjects with undiagnosed neurological diseases (when supposed to be inherited)
  • Exclusion Criteria:
  • • none

About Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta

Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta is a prestigious research institute in Italy dedicated to advancing the field of neurology through innovative clinical trials and translational research. As a leading center of excellence, it focuses on the diagnosis and treatment of neurological disorders, fostering collaboration among clinicians, researchers, and healthcare professionals. The foundation is committed to improving patient outcomes by integrating cutting-edge scientific research with clinical practice, ensuring that groundbreaking therapies and interventions are effectively translated into real-world applications for individuals affected by neurological conditions.

Locations

Milano, , Italy

Patients applied

0 patients applied

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported

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