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

NCT04880356 | Recruiting

• 1 other identifier: MaNeNeND
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief Summary

General aim of the study is the improvement of the clinical knowledge of ultra-rare inherited metabolic and degenerative neurological diseases (prevalence less than 5:100,000) in adulthood through the systematic longitudinal collection of clinical, laboratory and instrumental data.

Conditions

Inherited Disease; Rare Diseases; Metabolic Disease; Undiagnosed Disease; Neurologic Disorder; Neuro-Degenerative Disease

Keywords

Leukodystrophies,; Adrenoleukodystrophy,; Metachromatic leukodystrophy,; Krabbe disease,; Vanishing White Matter Syndrome,; Alexander disease,; Hereditary Leukodystrophy with Spheroids (CSF1R-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

Outcome Measures

Primary Outcomes (8)

• Verbal (letter) fluency

  Repeated Montreal Cognitive Assessment (MoCA) letter F fluency subtest

  10 years

• Stance and gait performances [Time Frame: 10 years] Stance and gait performances

  Repeated SARA (Scale for the Assessment and Rating Ataxia) stance subtask, ambulation index (AI) and Timed Up and Go (TUG) test

  10 years

• Upper limb motor function

  Repeated ONLS (Overall Neuropathy Limitation Scale) arm scale

  10 years

• Swallowing function (dysphagia)

  Repeated NP-C mDRS (Niemann-Pick type C modified disability rating scale) swallowing scale

  10 years

• Speech function (dysarthria)

  Repeated NP-C mDRS language scale

  10 years

• Bladder function

  Repeated AADS (Adult Adrenoleukodystrophy Disability Score) Bladder function scale

  10 years

• Sleep

  Repeated assessment of presence or absence of sleep disturbances

  10 years

• Quality of life

  Repeated EuroQol-5D-5L (EQ-5D-5L) questionnaire

  10 years

Study Arms (2)

Retrospective study

collection of retrospective data from adult patients with ultra-rare inherited neurological diseases

Other: collection of data

Prospective study

prospective data will be collected starting from March 2021 (date of protocol approval) and spanning the next ten years

Other: collection of data

Interventions

collection of data OTHER

collection of retrospective and prospective data from adult patients with ultra-rare inherited neurological diseases

Prospective study; Retrospective study

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adults with ultra-rare inherited degenerative and metabolic neurological diseases Adults with undiagnosed neurological diseases (when supposed to be inherited)

You may qualify if:

• Age \>= 18 years
• Subjects with ultra-rare inherited degenerative and metabolic neurological diseases
• Subjects with undiagnosed neurological diseases (when supposed to be inherited)

You may not qualify if:

• none

Sponsors & Collaborators

• Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta: lead

Study Sites (1)

Fondazione IRCCS Istituto Neurologico Carlo Besta

Milan, Milano, 20133, Italy

RECRUITING

Related Publications (1)

• Moscatelli M, Benzoni C, Doniselli FM, Verri M, Pascuzzo R, Aquino D, Mazzi F, Erbetta A, Salsano E. Interval between contrast administration and T1-weighted MRI for cerebral adrenoleukodystrophy: a single-case observation. Eur Radiol Exp. 2023 Oct 2;7(1):57. doi: 10.1186/s41747-023-00373-6.

  PMID: 37782421 DERIVED

MeSH Terms

Conditions

Genetic Diseases, Inborn; Rare Diseases; Metabolic Diseases; Undiagnosed Diseases; Nervous System Diseases; Adrenoleukodystrophy; Leukodystrophy, Metachromatic; Leukodystrophy, Globoid Cell; Alexander Disease; Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; Leukoencephalopathies; Pelizaeus-Merzbacher Disease; Cysts; 2-Hydroxyglutaricaciduria; Methylmalonic acidemia with homocystinuria; Fahr's disease; Hepatolenticular Degeneration; Xanthomatosis, Cerebrotendinous; Sphingolipidoses

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Hereditary Central Nervous System Demyelinating Diseases; Demyelinating Diseases; X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Genetic Diseases, X-Linked; Heredodegenerative Disorders, Nervous System; Metabolism, Inborn Errors; Peroxisomal Disorders; Adrenal Insufficiency; Adrenal Gland Diseases; Endocrine System Diseases; Sulfatidosis; Lysosomal Storage Diseases, Nervous System; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Neurodegenerative Diseases; Neoplasms; Pathological Conditions, Anatomical; Liver Diseases; Digestive System Diseases; Basal Ganglia Diseases; Movement Disorders; Metal Metabolism, Inborn Errors; Xanthomatosis

Central Study Contacts

Ettore Salsano, MD

CONTACT

+39022394; ettore.salsano@istituto-besta.it

Renato Mantegazza, MD

CONTACT

+39022394; crc@istituto-besta.it

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 19, 2021
• First Posted: May 10, 2021
• Study Start: March 1, 2021
• Primary Completion (Estimated): March 1, 2031
• Study Completion (Estimated): March 1, 2031
• Last Updated: November 19, 2024

Record last verified: 2024-11

Locations

IT (1)